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Lista de obras de Kenneth Offit

11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood

artículo científico publicado en 2020

18q21 rearrangement in diffuse large cell lymphoma: incidence and clinical significance

artículo científico publicado en 1989

453 THE ASSOCIATION OF GENITOURINARY CANCERS WITH BRCA CARRIER STATUS IN A CLINICALLY TESTED COHORT FROM A SINGLE INSTITUTION

6q deletions define distinct clinico-pathologic subsets of non-Hodgkin's lymphoma

artículo científico publicado en 1993

A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis

artículo científico publicado en 2016

A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer

artículo científico publicado en 2016

A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

article

A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)

artículo científico publicado en 2019

A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment

artículo científico publicado en 2004

A counseling framework for moderate-penetrance colorectal cancer susceptibility genes.

artículo científico publicado en 2018

A genome-wide association study of marginal zone lymphoma shows association to the HLA region

artículo científico publicado en 2015

A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms

artículo científico publicado en 2009

A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

artículo científico publicado en 2010

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

artículo científico publicado en 2010

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

artículo científico publicado en 2012

A rapid and reliable test for BRCA1 and BRCA2 founder mutation analysis in paraffin tissue using pyrosequencing

artículo científico publicado en 2009

A rare TP53 mutation predominant in Ashkenazi Jews confers risk of multiple cancers

artículo científico publicado en 2020

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome

artículo científico publicado en 2013

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

artículo científico publicado en 2013

A single nucleotide polymorphism in the 5' untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers

artículo científico publicado en 2001

A636P is associated with early-onset colon cancer in Ashkenazi Jews.

artículo científico publicado en 2003

A636P testing in Ashkenazi Jews

artículo científico publicado en 2004

ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes

artículo científico publicado en 2006

ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes

artículo científico publicado en 2006

AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study

artículo científico publicado en 2007

Absence of genomic BRCA1 and BRCA2 rearrangements in Ashkenazi breast and ovarian cancer families

article

Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier

artículo científico publicado en 2013

Absence of premalignant histologic, molecular, or cell biologic alterations in prophylactic oophorectomy specimens fromBRCA1 heterozygotes

artículo científico publicado en 2000

Abstract 1291: High and moderate penetrance germline mutations in a number of genes are responsible for a small proportion of familial breast cancer risk in BRCAx families

article

Abstract 1752: BRCA-mediated tumorigenesis is origin and cell-type dependent

scholarly article

Abstract 2378: Harmonization of next generation sequencing data within consortia for gene discovery in familial breast cancer

article

Abstract 2685: Identification of circulating protein biomarkers for colorectal cancer risk: A genetic instrument analysis

scholarly article

Abstract 3282: Determination of cancer susceptibility in probands with breast and ovarian cancer

article published in 2014

Abstract 4158: Dissecting the role of zygosity and lineage in Lynch Syndrome-associated microsatellite Instability

scholarly article

Abstract 5071: A genome-wide association study suggests evidence of variants at 6p21.32 associated with marginal zone lymphoma

Abstract 729: Zygosity, lineage, and penetrance dictate the role of germline pathogenicity in tumorigenesis

scholarly article

Abstract LB-304: Oncologic therapy for solid tumors alters the risk of clonal hematopoiesis

scholarly article

Accuracy of BRCA1 and BRCA2 founder mutation analysis in formalin-fixed and paraffin-embedded (FFPE) tissue.

artículo científico

Adiposity, metabolites, and colorectal cancer risk: Mendelian randomization study

artículo científico publicado en 2020

Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

article

Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

artículo científico publicado en 2016

Altered tumor formation and evolutionary selection of genetic variants in the human MDM4 oncogene.

scholarly article

American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility

artículo científico publicado en 2010

An analysis of the association between prostate cancer risk loci, PSA levels, disease aggressiveness and disease-specific mortality

artículo científico publicado en 2015

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

artículo científico publicado en 2015

Analysis of genetic variation in Ashkenazi Jews by high density SNP genotyping

artículo científico publicado en 2008

Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types

artículo científico publicado en 2015

Analysis of mismatch repair defects in the familial occurrence of lymphoma and colorectal cancer

artículo científico publicado en 2002

Appropriateness of breast-conserving treatment of breast carcinoma in women with germline mutations in BRCA1 or BRCA2: a clinic-based series

artículo científico publicado en 2005

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

artículo científico publicado en 2015

Assessment of SLX4 Mutations in Hereditary Breast Cancers

artículo científico publicado en 2013

Assessment of individuals with BRCA1 and BRCA2 large rearrangements in high-risk breast and ovarian cancer families

artículo científico publicado en 2014

Assessment of the prevalence of de novo mutations in the BRCA1 and BRCA2 genes

article

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

artículo científico publicado en 2019

Association of a HOXB13 variant with breast cancer

artículo científico publicado en 2012

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

artículo científico publicado en 2016

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

artículo científico publicado en 2015

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Author Correction: Tumour lineage shapes BRCA-mediated phenotypes

artículo científico publicado en 2020

BCL-6 in diffuse large-cell lymphomas.

artículo científico publicado en 1996

BLM heterozygosity and the risk of colorectal cancer

scientific article published on 01 September 2002

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

artículo científico publicado en 2018

BRCA germline mutations in Jewish patients with pancreatic adenocarcinoma

artículo científico publicado en 2008

BRCA mutation frequency and penetrance: new data, old debate

scientific article published on 01 December 2006

BRCA mutations and risk of prostate cancer in Ashkenazi Jews

artículo científico publicado en 2004

BRCA mutations in women with ductal carcinoma in situ

artículo científico publicado en 2007

BRCA-associated breast cancer in young women

artículo científico publicado en 1998

BRCA-associated breast cancer: absence of a characteristic immunophenotype

scientific article published on 01 May 1998

BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels

artículo científico publicado en 2011

BRCA1 and BRCA2 Pathogenic Sequence Variants in Women of African Origin or Ancestry

artículo científico publicado en 2019

BRCA1 and BRCA2 germline mutations in lymphoma patients

artículo científico publicado en 2003

BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing.

artículo científico publicado en 1997

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

artículo científico publicado en 2015

Blood biomarker levels to aid discovery of cancer-related single-nucleotide polymorphisms: kallikreins and prostate cancer

artículo científico publicado en 2010

Breast MRI for Women With Hereditary Cancer Risk

scientific article published in The Journal of the American Medical Association

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

artículo científico publicado en 2022

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

artículo científico publicado en 2012

Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study.

artículo científico publicado en 2005

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

artículo científico publicado en 2016

Breast cancer risks in individuals testing negative for a known family mutation in BRCA1 or BRCA2.

artículo científico publicado en 2010

Breast cancer single-nucleotide polymorphisms: statistical significance and clinical utility

scientific article published on 30 June 2009

Breast conservation therapy for invasive breast cancer in Ashkenazi women with BRCA gene founder mutations.

artículo científico

CHEK2 Alleles Predispose to Renal Cancer in Poland-In Reply

scientific article published on 01 April 2019

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

artículo científico publicado en 2013

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

artículo científico publicado en 2019

Cancer Susceptibility Mutations in Patients With Urothelial Malignancies

scientific article published on 03 December 2019

Cancer genetic testing and assisted reproduction

artículo científico publicado en 2006

Cancer genomics and inherited risk

artículo científico publicado en 2014

Cancer survivorship--genetic susceptibility and second primary cancers: research strategies and recommendations

artículo científico publicado en 2006

Cancer susceptibility mutations in individuals with breast and ovarian cancer using next-generation sequencing

Cancer therapy shapes the fitness landscape of clonal hematopoiesis

artículo científico publicado en 2020

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Cascading After Peridiagnostic Cancer Genetic Testing: An Alternative to Population-Based Screening

artículo científico publicado en 2020

Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

article

Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

scientific article published on 04 February 2019

Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci

artículo científico publicado en 2015

Characterization and Clinical Outcomes of DNA Mismatch Repair Deficient (MMR-D) Small Bowel Adenocarcinoma

artículo científico publicado en 2020

Characterization of a germline splice site variant MLH1 c.678-3T>A in a Lynch syndrome family

scientific article published on 30 April 2020

Characterization of a novel germline PALB2 duplication in a hereditary breast and ovarian cancer family

artículo científico publicado en 2016

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

artículo científico publicado en 2020

Chromosomal aberrations in non-Hodgkin's lymphoma. Biologic and clinical correlations

scientific article published on October 1991

Chromosomal and gene amplification in diffuse large B-cell lymphoma

scientific article published on 01 July 1998

Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses

artículo científico publicado en 2019

Circulating bilirubin levels and risk of colorectal cancer: serological and Mendelian randomization analyses

scientific article published on 03 September 2020

Clinical Evaluation of Cisplatin Sensitivity of Germline Polymorphisms in Neoadjuvant Chemotherapy for Urothelial Cancer

artículo científico publicado en 2016

Clinical and morphologic features of B-cell small lymphocytic lymphoma with del(6)(q21q23)

scientific article published on 01 May 1994

Clinical features and management of BRCA1 and BRCA2-associated prostate cancer

artículo científico

Clinical practice. Management of an inherited predisposition to breast cancer

artículo científico publicado en 2007

Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

artículo científico publicado en 2018

Clonal cytogenetic abnormalities in Hodgkin's disease

scientific article published on July 1991

Clonal hematopoiesis is associated with risk of severe Covid-19

scientific article published on 27 November 2020

Clusters of chromosome 9 aberrations are associated with clinico‐pathologic subsets of non‐Hodgkin's lymphoma ⬇️

artículo científico publicado el 1 de mayo de 1993

Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes

artículo científico publicado en 2015

Colorectal cancer risk in individuals with biallelic or monoallelic mutations of MYH

scientific article published on 01 April 2005

Combined genetic assessment of transforming growth factor-beta signaling pathway variants may predict breast cancer risk

artículo científico publicado en 2005

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

artículo científico publicado en 2010

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

artículo científico publicado en 2011

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

artículo científico publicado en 2010

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

artículo científico publicado en 2012

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009

Common variants in breast cancer risk loci predispose to distinct tumor subtypes

artículo científico publicado en 2022

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

artículo científico publicado en 2012

Comparison of up-front cash cards and checks as incentives for participation in a clinician survey: a study within a trial

artículo científico publicado en 2020

Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing

artículo científico publicado en 2017

Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing

artículo científico publicado en 2016

Considerations in genetic counseling for inherited breast cancer predisposition

Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

scientific article published on 01 July 2019

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

artículo científico publicado en 2010

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

artículo científico publicado en 2012

Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

artículo científico publicado en 2019

Correction: Toward automation of germline variant curation in clinical cancer genetics

scientific article published on 01 July 2019

Counseling and Testing for Inherited Predisposition to Cancer

Counselling framework for moderate-penetrance cancer-susceptibility mutations

artículo científico publicado en 2016

Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer

scientific article published on 19 December 2019

Cytogenetic analysis of 434 consecutively ascertained specimens of non-Hodgkin's lymphoma: clinical correlations

scientific article published on 01 April 1991

Cytogenetic analysis of 434 consecutively ascertained specimens of non-Hodgkin's lymphoma: correlations between recurrent aberrations, histology, and exposure to cytotoxic treatment

artículo científico publicado en 1991

Cytogenetic analysis of chimerism and leukemia relapse in chronic myelogenous leukemia patients after T cell-depleted bone marrow transplantation.

artículo científico publicado en 1990

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

DNA-Repair Gene Mutations in Metastatic Prostate Cancer

artículo científico publicado en 2016

Decade in review--genomics: a decade of discovery in cancer genomics.

artículo científico publicado en 2014

Decision-Making Preferences About Secondary Germline Findings That Arise From Tumor Genomic Profiling Among Patients With Advanced Cancers

scientific article published on 21 December 2017

Defining hereditary upper tract urothelial carcinoma: Implications for genetic testing and clinical management.

artículo científico publicado en 2022

Del (7)(q32) is associated with a subset of small lymphocytic lymphoma with plasmacytoid features ⬇️

artículo científico publicado el 15 de septiembre de 1995

Deletions involving two distinct regions of 6q in B-cell non-Hodgkin lymphoma ⬇️

artículo científico publicado el 1 de octubre de 1992

Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies

artículo científico publicado en 2013

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.

artículo científico publicado en 2018

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

artículo científico publicado en 2018

Diagnosing Hereditary Colorectal Cancer ⬇️

artículo científico publicado el 1 de octubre de 2010

Differential recruitment of caspase 8 to cFlip confers sensitivity or resistance to Fas-mediated apoptosis in a subset of familial lymphoma patients

artículo científico publicado en 2003

Discovery of common and rare genetic risk variants for colorectal cancer

artículo científico publicado en 2018

Discriminatory accuracy and potential clinical utility of genomic profiling for breast cancer risk in BRCA-negative women

artículo científico publicado en 2010

EGFR mutant lung adenocarcinomas in patients with germline BRCA mutations

artículo científico publicado en 2008

Educational and Psychosocial Support Needs in Lynch Syndrome: Implementation and Assessment of an Educational Workshop and Support Group

artículo científico publicado en 2016

Effect of mammography on breast cancer risk in women with mutations in BRCA1 or BRCA2.

artículo científico publicado en 2006

Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers

artículo científico publicado en 2005

Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial

scientific article published on 11 December 2019

Epithelial lesions in prophylactic mastectomy specimens from women withBRCA mutations

artículo científico publicado en 2003

Erratum: Author Correction: The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

artículo científico publicado en 2017

Estrogen Receptor-Beta Expression in Hereditary Breast Cancer

Estrogen receptor genotypes and haplotypes associated with breast cancer risk

artículo científico publicado en 2004

Ethical and legal aspects of cancer genetic testing

artículo científico publicado en 2007

Ethical and legal implications of cancer genetic testing: do physicians have a duty to warn patients' relatives about possible genetic risks?

artículo científico publicado en 2008

Ethicolegal aspects of cancer genetics

artículo científico publicado en 2010

Evaluating the association of multiple single nucleotide polymorphisms with response to gemcitabine and platinum combination chemotherapy in urothelial carcinoma of the bladder

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer

artículo científico publicado en 2016

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2017

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

artículo científico publicado en 2009

Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial.

artículo científico publicado en 2018

Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

artículo científico publicado en 2012

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

scientific article published on February 2017

Evaluation of germline PTEN mutations in endometrial cancer patients

article published in 2005

Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors

artículo científico publicado en 2013

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

artículo científico publicado en 2015

Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations

artículo científico publicado en 2003

Familial Hodgkin's and non-Hodgkin's lymphoma: different patterns in first-degree relatives

artículo científico publicado en 1997

Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights

artículo científico publicado en 2019

Familial acute myeloid leukemia and DiGuglielmo syndrome

artículo científico publicado el 1 de junio de 1995

Familial adenomatous polyposis and mental retardation caused by a de novo chromosomal deletion at 5q15-q22: report of a case.

artículo científico publicado en 2005

Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC ⬇️

artículo científico publicado el 1 de septiembre de 1997

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2016

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

artículo científico publicado en 2020

Follicular lymphoma with t(8;14)(q24;q32): a distinct clinical and molecular subset of t(8;14)-bearing lymphomas ⬇️

artículo científico publicado el 15 de abril de 1992

Frequency of BRCA1 and BRCA2 Mutations in Unselected Ashkenazi Jewish Patients With Colorectal Cancer

artículo científico publicado en 2004

Frequency of CHEK2*1100delC in New York breast cancer cases and controls

artículo científico publicado en 2003

Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families

artículo científico publicado en 1996

Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma

artículo científico publicado en 2019

Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population

artículo científico publicado en 2005

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

artículo científico publicado en 2021

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

artículo científico publicado en 2016

Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant

artículo científico publicado en 2009

Gene patents and personalized cancer care: impact of the Myriad case on clinical oncology

artículo científico publicado en 2013

Genetic analysis of the early natural history of epithelial ovarian carcinoma

artículo científico publicado en 2010

Genetic architecture of prostate cancer in the Ashkenazi Jewish population

artículo científico publicado en 2011

Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes

artículo científico publicado en 2019

Genetic testing for susceptibility to cancer. Task Force on Cancer Genetics Education

artículo científico publicado en 1998

Genetic testing in gastrointestinal cancers: a case-based approach.

artículo científico

Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

article

Genetic variants in germline TP53 and MDM2 SNP309 are not associated with early onset colorectal cancer

artículo científico publicado en 2008

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2010

Genetic variation in DNA repair pathways and risk of non-Hodgkin's lymphoma

artículo científico publicado en 2014

Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015.

artículo científico publicado en 2016

Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology

artículo científico publicado en 2021

Genetic/familial high-risk assessment: breast and ovarian

artículo científico publicado en 2006

Genetic/familial high-risk assessment: breast and ovarian

artículo científico publicado en 2010

Genetic/familial high-risk assessment: breast and ovarian, version 1.2014

artículo científico publicado en 2014

Genetically Determined Height and Risk of Non-hodgkin Lymphoma

artículo científico publicado en 2019

Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes

artículo científico publicado en 2016

Genetics, genomics, and cancer risk assessment: State of the Art and Future Directions in the Era of Personalized Medicine

artículo científico publicado en 2011

Genitourinary Cancers Other than Prostate Cancer in a BRCA-tested Cohort from a Single Institution

scientific article published on 14 January 2015

Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant

article

Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk

scientific article published on 29 July 2020

Genome-wide analysis of the role of copy-number variation in pancreatic cancer risk

artículo científico publicado en 2014

Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

artículo científico publicado en 2017

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article

Genome-wide association studies of cancer

artículo científico publicado en 2010

Genome-wide association studies of cancer predisposition

artículo científico publicado en 2010

Genome-wide association studies of cancer: principles and potential utility.

artículo científico publicado en 2010

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region

artículo científico publicado en 2014

Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

artículo científico publicado en 2013

Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma

artículo científico publicado en 2014

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

artículo científico publicado en 2013

Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.

artículo científico publicado en 2008

Genomic Biomarkers for Breast Cancer Risk

artículo científico publicado en 2016

Genomic profiles for disease risk: predictive or premature?

artículo científico publicado en 2008

Germline BRCA mutation does not prevent response to taxane-based therapy for the treatment of castration-resistant prostate cancer

artículo científico publicado en 2011

Germline BRCA mutations denote a clinicopathologic subset of prostate cancer

artículo científico publicado en 2010

Germline BRCA1 185delAG mutations in Jewish women with breast cancer

scientific article published on 01 June 1996

Germline BRCA2 mutations detected in pediatric sequencing studies impact parents' evaluation and care

artículo científico publicado en 2017

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia

artículo científico publicado en 2015

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

artículo científico publicado en 2020

Germline PALB2 mutation analysis in breast-pancreas cancer families

article

Germline RAD51B variants confer susceptibility to breast and ovarian cancers deficient in homologous recombination

artículo científico publicado en 2021

Germline SDHA mutations in children and adults with cancer

scientific article published on 01 August 2018

Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

artículo científico publicado en 2015

Germline deletion of in familial acute lymphoblastic leukemia

scientific article published on 01 April 2019

Germline drivers of gynecologic carcinosarcoma (2274)

artículo científico publicado en 2023

Germline drivers of gynecologic carcinosarcomas

artículo científico publicado en 2023

Germline mutations in BAP1 predispose to melanocytic tumors

artículo científico publicado en 2011

Germline mutations in lysine specific demethylase 1 (LSD1/KDM1A) confer susceptibility to multiple myeloma.

artículo científico publicado en 2018

Germline mutations ofAXIN2are not associated with nonsyndromic colorectal cancer

artículo científico publicado en 2005

Germline single nucleotide polymorphisms associated with response of urothelial carcinoma to platinum-based therapy: the role of the host

artículo científico publicado en 2013

Germline variants in non-BRCA1/2 homologous recombination-related genes and ovarian cancer: Analysis of tumor phenotype and survival.

artículo científico publicado en 2023

HLA class I and II diversity contributes to the etiologic heterogeneity of non-Hodgkin lymphoma subtypes.

artículo científico publicado en 2018

Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study

artículo científico publicado en 1998

Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study

artículo científico publicado en 1996

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial

scientific article published on 07 October 2019

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

artículo científico publicado en 2019

Hereditary cancer predisposition syndromes

artículo científico publicado en 2005

Hereditary ovarian cancer in Ashkenazi Jews

artículo científico publicado en 2004

Heterogenic loss of the wild-type BRCA allele in human breast tumorigenesis

artículo científico publicado en 2007

Heterozygous mutations in DNA repair genes and hereditary breast cancer: a question of power

artículo científico publicado en 2012

High-depth whole genome sequencing of a large population-specific reference panel: Enhancing sensitivity, accuracy, and imputation

High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.

artículo científico publicado en 2018

Higher Than Expected Carrier Frequency Of The Dyskeratosis Congenita RTEL1 p.Arg1264His recessive Founder In Individuals Of Ashkenazi Jewish Ancestry ⬇️

artículo científico publicado en 2013

Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer

artículo científico publicado en 2008

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

artículo científico publicado en 2017

Identification of Novel Loci and New Risk Variant in Known Loci for Colorectal Cancer Risk in East Asians

scientific article published on 11 December 2019

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

artículo científico publicado en 2013

Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry

artículo científico publicado en 2016

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

artículo científico publicado en 2016

Identification of germline genetic mutations in patients with pancreatic cancer

artículo científico publicado en 2015

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

artículo científico publicado en 2016

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

artículo científico publicado en 2015

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

artículo científico publicado en 2017

Identifying novel susceptibility genes for colorectal cancer risk from a transcriptome-wide association study of 125,478 subjects

artículo científico publicado en 2020

Illustrating Cancer Risk: Patient Risk Communication Preferences and Interest regarding a Novel BRCA1/2 Genetic Risk Modifier Test

scientific article published on 19 March 2020

Immunohistochemical, molecular, and cytogenetic analysis of a consecutive series of 20 peripheral T-cell lymphomas and lymphomas of uncertain lineage, including 12 Ki-1 positive lymphomas

scientific article published on 01 May 1990

Immunohistochemistry as first-line screening for detecting colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: a 2-antibody panel may be as predictive as a 4-antibody panel

artículo científico publicado en 2009

Improved survival for BRCA2-associated serous ovarian cancer compared with both BRCA-negative and BRCA1-associated serous ovarian cancer

artículo científico publicado en 2011

Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families

artículo científico publicado en 2002

Including additional controls from public databases improves the power of a genome-wide association study

artículo científico

Incorporating information regarding preimplantation genetic diagnosis into discussions concerning testing and risk management for BRCA1/2 mutations: a qualitative study of patient preferences

artículo científico publicado en 2012

Incorporating progesterone receptor expression into the PREDICT breast prognostic model

artículo científico publicado en 2022

Increased CpG methylation of the estrogen receptor gene in BRCA1-linked estrogen receptor-negative breast cancers

article

Increased frequency of disease-causing MYH mutations in colon cancer families.

artículo científico publicado en 2006

Increased progesterone receptor expression in benign epithelium of BRCA1-related breast cancers

artículo científico publicado en 2004

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

artículo científico publicado en 2016

Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer

scientific article published on 06 July 2016

Inherited Rare, Deleterious Variants in ATM Increase Lung Adenocarcinoma Risk

artículo científico publicado en 2020

Inherited mutations in breast cancer patients with and without multiple primary cancers

Inherited predisposition to cancer: introduction and overview

scientific article published on October 2010

Inherited variants at 3q13.33 and 3p24.1 are associated with risk of diffuse large B-cell lymphoma and implicate immune pathways

artículo científico publicado en 2020

Insurance reimbursement for risk-reducing mastectomy and oophorectomy in women with BRCA1 or BRCA2 mutations.

artículo científico publicado en 2001

Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes

article

Integrative clinical genomics of metastatic cancer

artículo científico publicado en 2017

Interest and Attitudes of Patients With Advanced Cancer With Regard to Secondary Germline Findings From Tumor Genomic Profiling

artículo científico publicado en 2017

Intermediate- to high-grade histology of lymphomas carrying t(14;18) is associated with additional nonrandom chromosome changes.

artículo científico publicado en 1987

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

artículo científico publicado en 2011

Involvement of BCL6 in chromosomal aberrations affecting band 3q27 in B-cell non-Hodgkin lymphoma

artículo científico publicado en 1998

Juvenile Polyposis Syndrome Presenting With Familial Gastric Cancer and Massive Gastric Polyposis

Ki-1 antigen expression defines a favorable clinical subset of non-B cell non-Hodgkin's lymphoma

artículo científico publicado en 1990

Leukemic differentiation of a mediastinal germ cell tumor

artículo científico publicado en 1989

Localization of breast cancer susceptibility loci by genome-wide SNP linkage disequilibrium mapping

article published in 2005

Localization of cancer susceptibility genes by genome-wide single-nucleotide polymorphism linkage-disequilibrium mapping

scientific article published on 01 November 2004

Low incidence of BRCA2 mutations in breast carcinoma and other cancers

artículo científico publicado en 1996

Lupus-related single nucleotide polymorphisms and risk of diffuse large B-cell lymphoma

artículo científico publicado en 2017

MDM2 SNP309 Accelerates Tumor Formation in a Gender-Specific and Hormone-Dependent Manner

article

MP36-06 UTILITY OF PROSPECTIVE PATHOLOGIC EVALUATION TO INFORM CLINICAL GENETIC TESTING FOR HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CARCINOMA

MP61-05 PILOT INVESTIGATION OF VARIANTS IN DNA REPAIR PATHWAYS AND ASSOCIATION WITH RESPONSE TO PLATINUM-BASED CHEMOTHERAPY IN BLADDER CANCER

MSH6 germline mutations are rare in colorectal cancer families.

artículo científico publicado en 2003

MSH6 mutations in hereditary nonpolyposis colon cancer: another slice of the pie

scientific article published on 13 October 2004

MYC rearrangement and translocations involving band 8q24 in diffuse large cell lymphomas

scientific article published on 01 March 1991

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

artículo científico publicado en 2016

Mendelian Randomization of Circulating Polyunsaturated Fatty Acids and Colorectal Cancer Risk

scientific article published on 12 February 2020

Mendelian randomisation study of age at menarche and age at menopause and the risk of colorectal cancer

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

scientific article published on 19 June 2019

Mendelian randomisation study of smoking exposure in relation to breast cancer risk

artículo científico publicado en 2021

Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia

artículo científico publicado en 2016

Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer

artículo científico publicado en 2018

Modeling Genetic Risk of Breast Cancer

artículo científico publicado en 2007

Molecular analysis of breaks in BCL-1 proto-oncogene in B-cell lymphomas with abnormalities of 11q13

artículo científico publicado en 1989

Molecular analysis of structural chromosome changes affecting chromosome band 11q23

artículo científico publicado en 1989

Molecular genetic characterization of BRCA1- and BRCA2-linked hereditary ovarian cancers

artículo científico publicado en 1998

Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome

artículo científico publicado en 2014

Multigene Testing for Hereditary Cancer: When, Why, and How

artículo científico publicado en 2017

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

artículo científico publicado en 2013

Multiplex Genetic Testing for Cancer Susceptibility: Out on the High Wire Without a Net?

Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.

artículo científico publicado en 2017

Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers

scientific article published on 19 August 2020

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

artículo científico publicado en 2018

Mutations in a gene encoding a midbody kelch protein in familial and sporadic classical Hodgkin lymphoma lead to binucleated cells

artículo científico publicado en 2009

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017.

artículo científico publicado en 2017

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020

scientific article published on 01 April 2020

Network modeling links breast cancer susceptibility and centrosome dysfunction

artículo científico publicado en 2007

New Pharmacogenomic Paradigm in Breast Cancer Treatment ⬇️

artículo científico publicado el 27 de septiembre de 2010

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

artículo científico publicado en 2015

No major association between TGFBR1*6A and prostate cancer

artículo científico publicado en 2004

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

artículo científico publicado en 2019

Novel pedigree analysis implicates DNA repair and chromatin remodeling in multiple myeloma risk.

artículo científico publicado en 2018

Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia

artículo científico publicado en 2021

Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2002

Outcome of Pancreatic Cancer Surveillance Among High-Risk Individuals Tested for Germline Mutations in BRCA1 and BRCA2

artículo científico publicado en 2019

Outcome of genetic evaluation of patients with kidney cancer referred for suspected hereditary cancer syndromes

artículo científico publicado en 2015

Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers.

artículo científico publicado en 2002

Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations.

artículo científico publicado en 2002

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

Ovarian carcinoma screening in women at intermediate risk: impact on quality of life and need for invasive follow-up

artículo científico publicado en 2005

PD10-05 OUTCOME OF GENETIC EVALUATION OF KIDNEY CANCER PATIENTS REFERRED FOR SUSPECTED HEREDITARY CANCER SYNDROMES

Pathogenic Loss-of-Function Germline TERT Mutations in Patients With Solid Tumors

scientific article published on 23 October 2019

Pathogenic germline variants in non-BRCA1/2 homologous recombination genes in ovarian cancer: Analysis of tumor phenotype and survival

artículo científico publicado en 2024

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

artículo científico publicado en 2011

Patients' Medical and Psychosocial Experiences After Detection of a CDH1 Variant With Multigene Panel Testing

artículo científico publicado en 2019

Personalized medicine: new genomics, old lessons

artículo científico publicado en 2011

Physical activity and risks of breast and colorectal cancer: a Mendelian randomisation analysis

artículo científico publicado en 2020

Pilot investigation of variants in DNA repair pathways and association with response to platinum-based chemotherapy in bladder cancer

Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia

artículo científico publicado en 2004

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

artículo científico publicado en 2019

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

artículo científico publicado en 2020

Polymorphisms of ADIPOQ and ADIPOR1 and prostate cancer risk ⬇️

artículo científico publicado el 12 de marzo de 2011

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

artículo científico publicado en 2017

Prediction of breast cancer risk based on profiling with common genetic variants

artículo científico publicado en 2015

Prediction of germline mutations and cancer risk in the Lynch syndrome

artículo científico publicado en 2006

Preface

Preimplantation genetic diagnosis for cancer syndromes: a new challenge for preventive medicine

artículo científico publicado en 2006

Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer

artículo científico publicado en 2011

Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma

artículo científico publicado en 2018

Prevalence of HOXB13 mutation in a population of Ashkenazi Jewish men treated for prostate cancer

scientific article published on December 2013

Prevalence of recurring BRCA mutations among Ashkenazi Jewish women with breast cancer

artículo científico publicado en 1997

Prevention and management of hereditary breast cancer

artículo científico publicado en 2005

Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms

artículo científico publicado en 2018

Prospective Feasibility Trial of a Novel Strategy of Facilitated Cascade Genetic Testing Using Telephone Counseling

artículo científico publicado en 2020

Prospective Genomic Profiling of Prostate Cancer Across Disease States Reveals Germline and Somatic Alterations That May Affect Clinical Decision Making

artículo científico publicado en 2017

Protein-altering germline mutations implicate novel genes related to lung cancer development

scientific article published on 11 May 2020

Psychosocial factors associated with the uptake of contralateral prophylactic mastectomy among BRCA1/2 mutation noncarriers with newly diagnosed breast cancer

artículo científico publicado en 2017

Psychosocial predictors of BRCA counseling and testing decisions among urban African-American women.

artículo científico publicado en 2002

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

Quality of life in women at risk for ovarian cancer who have undergone risk-reducing oophorectomy

artículo científico publicado en 2003

Quantitating familial cancer risk: a resource for clinical oncologists

artículo científico publicado en 1994

RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies

artículo científico publicado en 2007

REL proto-oncogene is frequently amplified in extranodal diffuse large cell lymphoma

artículo científico publicado en 1996

Rare de novo germline copy-number variation in testicular cancer

artículo científico publicado en 2012

Rare variants in XRCC2 as breast cancer susceptibility alleles

artículo científico publicado en 2012

Rare variants of ATM and risk for Hodgkin's disease and radiation-associated breast cancers

artículo científico publicado en 2002

Rearrangement of the bcl-6 gene as a prognostic marker in diffuse large-cell lymphoma

artículo científico publicado en 1994

Rearrangements of the BCL6 gene in diffuse large cell non-Hodgkin's lymphoma

scientific article published on 01 April 1994

Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium

artículo científico publicado en 1997

Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium

artículo científico publicado en 1997

Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer

artículo científico publicado en 1996

Reducing the Risk of Gynecologic Cancer in the Lynch Syndrome

Referral for cancer genetics consultation: a review and compilation of risk assessment criteria

artículo científico publicado en 2004

Relative contributions of BRCA1 and BRCA2 mutations to "triple-negative" breast cancer in Ashkenazi Women

artículo científico publicado en 2011

Reliable Detection of Mismatch Repair Deficiency in Colorectal Cancers Using Mutational Load in Next-Generation Sequencing Panels

artículo científico publicado en 2016

Reply to R.L. Nussbaum et al and J.S. Dolinsky et al.

artículo científico publicado en 2017

Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study

article

Revealing the incidentalome when targeting the tumor genome

artículo científico publicado en 2013

Risk of Endometrial Carcinoma Associated with BRCA Mutation

Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation-Negative Hereditary Breast Cancer Families

artículo científico publicado en 2005

Risk of metachronous breast cancer after BRCA mutation-associated ovarian cancer

artículo científico publicado en 2012

Risk-Reducing Salpingo-Oophorectomy in Women With a BRCA1 or BRCA2 Mutation

Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study

artículo científico publicado en 2008

Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation

artículo científico publicado en 2002

Risks to Relatives in Genomic Research: A Duty to Warn?

Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk

scientific article published on 01 July 1998

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

artículo científico publicado en 2014

Sequencing at lymphoid neoplasm susceptibility loci maps six myeloma risk genes

artículo científico publicado en 2021

Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia

artículo científico publicado en 2003

Shared heritability and functional enrichment across six solid cancers

artículo científico publicado en 2019

Shared heritability and functional enrichment across six solid cancers

Should all BRCA1 mutation carriers with stage I breast cancer receive chemotherapy?

artículo científico publicado en 2013

Similar patterns of genomic alterations characterize primary mediastinal large-B-cell lymphoma and diffuse large-B-cell lymphoma

Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management

artículo científico publicado en 2007

Small non-cleaved-cell lymphoma (undifferentiated lymphoma, Burkitt's type) in American adults: results with treatment designed for acute lymphoblastic leukemia

scientific article published on 01 March 1991

Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers

artículo científico publicado en 2006

Survival in epithelial ovarian cancer: a multivariate analysis incorporating BRCA mutation status and platinum sensitivity.

artículo científico publicado en 2010

Susceptibility loci associated with prostate cancer progression and mortality

artículo científico publicado en 2010

Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies

scientific journal article

Systematic immunohistochemistry screening for Lynch syndrome in early age-of-onset colorectal cancer patients undergoing surgical resection

artículo científico publicado en 2012

TGFBR1*6A and cancer risk: a meta-analysis of seven case-control studies

scientific article published on 01 September 2003

TGFBR1*6A and cancer: a meta-analysis of 12 case-control studies

artículo científico publicado en 2004

Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update

artículo científico publicado en 2006

Targeting Germline and Tumor Associated Nucleotide Excision Repair Defects in Cancer

artículo científico publicado en 2020

TbetaR-I(6A) is a candidate tumor susceptibility allele

artículo científico publicado en 1999

The "duty to warn" a patient's family members about hereditary disease risks

scientific article published on 01 September 2004

The 6q22.33 locus and breast cancer susceptibility

artículo científico publicado en 2009

The APCI1307K allele and breast cancer risk

artículo científico publicado en 1998

The American Society of Clinical Oncology position on genetic testing: implications for health care providers: workshop no. 4

scientific article published on 01 August 1997

The BRCA1 Ashkenazi founder mutations occur on common haplotypes and are not highly correlated with anonymous single nucleotide polymorphisms likely to be used in genome-wide case-control association studies

artículo científico publicado en 2007

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results

The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers

artículo científico publicado en 2016

The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop

artículo científico publicado en 2009

The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds

artículo científico publicado en 2005

The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%

The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds

artículo científico publicado en 1996

The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

artículo científico publicado en 2017

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population

artículo científico publicado en 2002

The future of clinical cancer genomics

artículo científico publicado en 2016

The genetics of familial lymphomas

artículo científico publicado en 2004

The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations

artículo científico publicado en 2001

The role of prevention in oncology practice: results from a 2004 survey of American Society of Clinical Oncology members

artículo científico publicado en 2006

The signatures of autozygosity among patients with colorectal cancer.

artículo científico publicado en 2008

Time to check CHEK2 in families with breast cancer?

artículo científico publicado en 2008

Tissue-Specific Enrichment of Lymphoma Risk Loci in Regulatory Elements

artículo científico publicado en 2015

Toward automation of germline variant curation in clinical cancer genetics

scientific article published on 21 February 2019

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

artículo científico publicado en 2020

Translating genomics in cancer care

artículo científico publicado en 2013

Tumour lineage shapes BRCA-mediated phenotypes

scientific article published on 10 July 2019

Twenty-one-gene recurrence score assay in BRCA-associated versus sporadic breast cancers: Differences based on germline mutation status

artículo científico publicado en 2016

Two decades after BRCA: setting paradigms in personalized cancer care and prevention

artículo científico publicado en 2014

Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenström macroglobulinemia

artículo científico publicado en 2018

Two truncating variants in FANCC and breast cancer risk

artículo científico publicado en 2019

Type I transforming growth factor beta receptor maps to 9q22 and exhibits a polymorphism and a rare variant within a polyalanine tract.

artículo científico publicado en 1998

Understanding inherited risk in unselected newly diagnosed patients with endometrial cancer

artículo científico publicado en 2019

Unique de novo mutation of BRCA2 in a woman with early onset breast cancer

artículo científico publicado en 2002

Uterine Cancer After Risk-Reducing Salpingo-oophorectomy Without Hysterectomy in Women With BRCA Mutations

artículo científico publicado en 2016

Utility of prospective pathologic evaluation to inform clinical genetic testing for hereditary leiomyomatosis and renal cell carcinoma

artículo científico publicado en 2017

Utilization of clinical genetic counseling among childhood and young adult cancer survivors in a registry trial

artículo científico publicado en 2020

Validation and genomic interrogation of the MET variant rs11762213 as a predictor of adverse outcomes in clear cell renal cell carcinoma

artículo científico publicado en 2015

Value of histopathology in predicting microsatellite instability in hereditary nonpolyposis colorectal cancer and sporadic colorectal cancer

scientific article published on 01 November 2003

Value of immunohistochemical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasms

artículo científico publicado en 2005

Variant t(8;14) translocations in non-Burkitt's non-Hodgkin's lymphomas

artículo científico publicado en 1992

Variants at 6q21 implicate PRDM1 in the etiology of therapy-induced second malignancies after Hodgkin's lymphoma

artículo científico publicado en 2011

Variants at IRX4 as prostate cancer expression quantitative trait loci

scientific article published on 11 September 2013

Variants of the adiponectin (ADIPOQ) and adiponectin receptor 1 (ADIPOR1) genes and colorectal cancer risk

artículo científico publicado en 2008

Variants of the adiponectin and adiponectin receptor 1 genes and breast cancer risk

artículo científico publicado en 2008

Y chromosome haplogroups and prostate cancer in populations of European and Ashkenazi Jewish ancestry

artículo científico publicado en 2012

cDNA analysis demonstrates that the BRCA2 intronic variant IVS4-12del5 is a deleterious mutation.

artículo científico publicado en 2008

p53 mutations are associated with histologic transformation of follicular lymphoma

scientific article published on 01 October 1993

p53 overexpression as a marker of poor prognosis in mantle cell lymphomas with t(11;14)(q13;q32) ⬇️

artículo científico publicado el 15 de octubre de 1995

t(3;22)(q27;q11): a novel translocation associated with diffuse non-Hodgkin's lymphoma

artículo científico publicado en 1989

t(9;14)(p13;q32) denotes a subset of low-grade non-Hodgkin's lymphoma with plasmacytoid differentiation

artículo científico publicado en 1992

“I don’t need any more unknowns hanging over my head”: Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing

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