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Lista de obras de Katherine L Nathanson

A Comprehensive Patient-Derived Xenograft Collection Representing the Heterogeneity of Melanoma

artículo científico publicado en 2017

A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer

artículo científico publicado en 2016

A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity

artículo científico publicado en 2012

A comparison of DNA copy number profiling platforms

artículo científico publicado en 2007

A functional genomic approach identifies FAL1 as an oncogenic long noncoding RNA that associates with BMI1 and represses p21 expression in cancer

artículo científico publicado en 2014

A functionally significant SNP in TP53 and breast cancer risk in African-American women

artículo científico publicado en 2017

A genome wide linkage search for breast cancer susceptibility genes

artículo científico publicado en 2006

A genome-wide association study of breast cancer in women of African ancestry

artículo científico publicado en 2012

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 meta-analysis identifies new loci associated with body mass index in individuals of African ancestry

artículo científico publicado en 2013

A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers

artículo científico publicado en 2006

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 patient-derived-xenograft platform to study BRCA-deficient ovarian cancers

artículo científico publicado en 2017

A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development

artículo científico publicado en 2017

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

artículo científico publicado en 2013

A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility

scientific journal article

ALLELE-SPECIFIC COPY NUMBER ESTIMATION BY WHOLE EXOME SEQUENCING.

artículo científico publicado en 2017

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 evidence for a familial breast cancer susceptibility gene at chromosome 8p12-p22

article

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

article

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

article published in 2014

Acquired resistance to BRAF inhibitors mediated by a RAF kinase switch in melanoma can be overcome by cotargeting MEK and IGF-1R/PI3K

artículo científico publicado en 2010

Active Notch1 confers a transformed phenotype to primary human melanocytes

artículo científico publicado en 2009

Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: Public health implications

scientific article published on 01 January 2005

Adult esophagogastric junction distensibility during general anesthesia assessed with an endoscopic functional luminal imaging probe (EndoFLIP®).

artículo científico publicado en 2011

An evaluation of BRCA1 and BRCA2 founder mutations penetrance estimates for breast cancer among Ashkenazi Jewish women

article

An intronic variant in PTEN is not associated with prostate cancer risk

artículo científico publicado en 2001

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 the DND1 gene in men with sporadic and familial testicular germ cell tumors

artículo científico publicado en 2008

Application of Panel-Based Tests for Inherited Risk of Cancer

artículo científico publicado en 2017

Application of a BRAF pyrosequencing assay for mutation detection and copy number analysis in malignant melanoma

artículo científico publicado en 2007

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 polygenic architecture and risk prediction based on common variants across fourteen cancers

artículo científico publicado en 2020

Association of HLA-DRB1 genetic variants with the persistence of atopic dermatitis

artículo científico publicado en 2015

Association of HPC2/ELAC2 genotypes and prostate cancer.

artículo científico publicado en 2000

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

artículo científico publicado en 2012

Association of breast cancer risk and the mTOR pathway in women of African ancestry in 'The Root' Consortium

artículo científico publicado en 2017

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 germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

scientific article published on 10 September 2020

Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2010

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

BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers

artículo científico publicado en 2017

BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic

artículo científico publicado en 2002

BRCA1 and BRCA2 mutations in breast cancer families with multiple primary cancers

article published in 2000

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

artículo científico publicado en 2015

Biallelic TSC gene inactivation in tuberous sclerosis complex

artículo científico publicado en 2010

Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer

artículo científico publicado en 2012

Bilateral pneumothoraces, cystic lung disease and papular skin lesions in a young man.

artículo científico publicado en 2009

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 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

CGH-targeted linkage analysis reveals a possible BRCA1 modifier locus on chromosome 5q

article

CODEX2: full-spectrum copy number variation detection by high-throughput DNA sequencing

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

artículo científico publicado en 2013

CRAF inhibition induces apoptosis in melanoma cells with non-V600E BRAF mutations

artículo científico publicado en 2009

Cancer Risk Estimates for BRCA1 Mutation Carriers Identified in a Risk Evaluation Program

article

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

artículo científico publicado en 2019

Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood

artículo científico publicado en 2017

Cancer cell lines as genetic models of their parent histology: analyses based on array comparative genomic hybridization

artículo científico publicado en 2007

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

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

artículo científico publicado en 2014

Characterizing Genetic Susceptibility to Breast Cancer in Women of African Ancestry

artículo científico publicado en 2017

Chemotherapy refractory testicular germ cell tumor is associated with a variant in Armadillo Repeat gene deleted in Velco-Cardio-Facial syndrome (ARVCF).

artículo científico publicado en 2012

Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinic

artículo científico publicado en 2006

Clinical efficacy of a RAF inhibitor needs broad target blockade in BRAF-mutant melanoma

artículo científico publicado en 2010

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

Common Bile Duct Polyp Mimicking Choledocholithiasis: A Case Report With Laparoscopic Transcystic Management

artículo científico publicado en 2008

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 risk variants in the post-COGS era: a comprehensive review

scientific article published on 20 December 2013

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 breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2008

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

artículo científico publicado en 2010

Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2010

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 of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

artículo científico publicado en 2011

Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer

artículo científico publicado en 2009

Comparison of address-based sampling and random-digit dialing methods for recruiting young men as controls in a case-control study of testicular cancer susceptibility

artículo científico publicado en 2013

Comparison of the Lonidamine Potentiated Effect of Nitrogen Mustard Alkylating Agents on the Systemic Treatment of DB-1 Human Melanoma Xenografts in Mice

artículo científico publicado en 2016

Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma

artículo científico publicado en 2017

Comprehensive characterization of the DNA amplification at 13q34 in human breast cancer reveals TFDP1 and CUL4A as likely candidate target genes.

artículo científico publicado en 2009

Concurrent MEK2 mutation and BRAF amplification confer resistance to BRAF and MEK inhibitors in melanoma

artículo científico publicado en 2013

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

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

Correlation of somatic mutations and clinical outcome in melanoma patients treated with Carboplatin, Paclitaxel, and sorafenib

artículo científico publicado en 2014

Corrigendum: Rare cell variability and drug-induced reprogramming as a mode of cancer drug resistance.

artículo científico publicado en 2018

Counselling framework for moderate-penetrance cancer-susceptibility mutations

artículo científico publicado en 2016

DCIS in BRCA1 and BRCA2 mutation carriers: prevalence, phenotype, and expression of oncodrivers C-MET and HER3.

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Deletion of 15q11.2–15q13.1 in isolated human hemimegalencephaly

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

artículo científico publicado en 2007

Diagnosis of Adult Hereditary Pulmonary Disease and the Role of Genetic Testing

scientific article published on 01 April 2010

Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium.

artículo científico publicado en 2017

Distinct MHC gene expression patterns during progression of melanoma

artículo científico publicado en 2010

Distinct genomic aberration patterns are found in familial breast cancer associated with different immunohistochemical subtypes

artículo científico publicado en 2007

ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

artículo científico publicado en 2011

Enhancing the evaluation of PI3K inhibitors through 3D melanoma models

artículo científico publicado en 2016

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 Status Could Modulate the Genomic Pattern in Familial and Sporadic Breast Cancer

Evaluation of 19 susceptibility loci of breast cancer in women of African ancestry

artículo científico publicado en 2012

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 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 linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium

artículo científico publicado en 2002

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.

artículo científico publicado en 2011

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

artículo científico publicado en 2010

Evolution of delayed resistance to immunotherapy in a melanoma responder

artículo científico publicado en 2021

Exploring the link between MORF4L1 and risk of breast cancer

artículo científico publicado en 2011

Expression of drug targets in patients treated with sorafenib, carboplatin and paclitaxel

artículo científico publicado en 2013

Expression of sorafenib targets in melanoma patients treated with carboplatin, paclitaxel and sorafenib

artículo científico publicado en 2009

External beam radiation therapy (EBRT) for patients with malignant pheochromocytoma and non-head and -neck paraganglioma: combination with 131I-MIBG.

artículo científico publicado en 2012

Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations

artículo científico publicado en 2008

Filaggrin sequencing and bioinformatics tools

artículo científico publicado en 2019

Fine mapping of breast cancer genome-wide association studies loci in women of African ancestry identifies novel susceptibility markers

artículo científico publicado en 2013

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

Frequent genetic abnormalities of the PI3K/AKT pathway in primary ovarian cancer predict patient outcome

artículo científico publicado en 2011

Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148 ⬇️

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Gene-panel sequencing and the prediction of breast-cancer risk

artículo científico publicado en 2015

Genetic and Genomic Characterization of 462 Melanoma Patient-Derived Xenografts, Tumor Biopsies, and Cell Lines

artículo científico publicado en 2017

Genetic changes associated with testicular cancer susceptibility

artículo científico publicado en 2016

Genetic subgrouping of melanoma reveals new opportunities for targeted therapy

artículo científico publicado en 2009

Genetic susceptibility to type 2 diabetes and breast cancer risk in women of European and African ancestry

artículo científico publicado en 2012

Genetic variants demonstrating flip-flop phenomenon and breast cancer risk prediction among women of African ancestry

artículo científico publicado en 2018

Genetic variants in microRNA and microRNA biogenesis pathway genes and breast cancer risk among women of African ancestry

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Genetic variation in IGF2 and HTRA1 and breast cancer risk among BRCA1 and BRCA2 carriers

artículo científico publicado en 2011

Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers

artículo científico publicado en 2009

Genetic variation in the Vitamin D related pathway and breast cancer risk in women of African ancestry in the Root Consortium

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 in women of African ancestry identified 3q26.21 as a novel susceptibility locus for oestrogen receptor negative breast cancer

artículo científico publicado en 2016

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 in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

artículo científico publicado en 2013

Genome-wide linkage screen for testicular germ cell tumour susceptibility loci

artículo científico publicado en 2006

Genomic Biomarkers for Breast Cancer Risk

artículo científico publicado en 2016

Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours

artículo científico publicado en 2013

Germline CHEK2*1100delC mutations in breast cancer patients with multiple primary cancers

artículo científico publicado en 2004

Germline mutations in BRCA1 and BRCA2 in breast-ovarian families from a breast cancer risk evaluation clinic

HIF-alpha effects on c-Myc distinguish two subtypes of sporadic VHL-deficient clear cell renal carcinoma

artículo científico publicado en 2008

HIF2alpha inhibition promotes p53 pathway activity, tumor cell death, and radiation responses

artículo científico publicado en 2009

HNPCC-associated pheochromocytoma: expanding the tumor spectrum

artículo científico publicado en 2015

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

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

Hemolytic anemia and erythroleukemia, two distinct pathogenic effects of Friend MuLV: Mapping of the effects to different regions of the viral genome

scientific article published on 01 December 1986

Hereditary kidney cancer syndromes

artículo científico publicado en 2014

Human skin neural crest progenitor cells are susceptible to BRAF(V600E)-induced transformation

artículo científico publicado en 2013

Hybrid peripheral nerve sheath tumor.

artículo científico publicado en 2012

I1307K APC variant in non-Ashkenazi Jewish women affected with breast cancer

artículo científico publicado en 1999

I1307K APC variant in non‐Ashkenazi Jewish women affected with breast cancer

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Identification of a novel subgroup of melanomas with KIT/cyclin-dependent kinase-4 overexpression

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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 intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.

artículo científico publicado en 2011

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

Immune activation and a 9-year ongoing complete remission following CD40 antibody therapy and metastasectomy in a patient with metastatic melanoma

artículo científico publicado en 2014

Immunotherapy at Large: The road to personalized cancer vaccines

article

Increased cyclin D1 expression can mediate BRAF inhibitor resistance in BRAF V600E-mutated melanomas

artículo científico publicado en 2008

Induction of Telomere Dysfunction Prolongs Disease Control of Therapy-Resistant Melanoma.

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing

artículo científico publicado en 2013

Inherited susceptibility for pediatric cancer.

artículo científico publicado en 2005

Integrated Molecular Characterization of Testicular Germ Cell Tumors

article by Hui Shen et al published 12 June 2018 in Cell Reports

Integrative genomic analyses of sporadic clear cell renal cell carcinoma define disease subtypes and potential new therapeutic targets

artículo científico publicado en 2011

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

artículo científico publicado en 2011

Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.

artículo científico publicado en 2001

Intestinal Perforation in Ehlers-Danlos Syndrome After Enema Treatment for Constipation

artículo científico publicado en 1998

Ki67 expression levels are a better marker of reduced melanoma growth following MEK inhibitor treatment than phospho-ERK levels.

artículo científico publicado en 2007

Lack of association between common single nucleotide polymorphisms in the TERT-CLPTM1L locus and breast cancer in women of African ancestry

artículo científico publicado en 2011

Large genomic rearrangement in BRCA1 and BRCA2 and clinical characteristics of men with breast cancer in the United States

artículo científico publicado en 2007

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

artículo científico publicado en 2019

Low penetrance genes associated with increased risk for breast cancer.

artículo científico publicado en 2000

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

artículo científico publicado en 2002

MEK inhibition affects STAT3 signaling and invasion in human melanoma cell lines

scientific article published on 29 April 2013

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

Malignant paraganglioma associated with succinate dehydrogenase subunit B in an 8-year-old child: the age of first screening?

artículo científico publicado en 2009

Measurements of tumor cell autophagy predict invasiveness, resistance to chemotherapy, and survival in melanoma

artículo científico publicado en 2011

Meta-analysis identifies four new loci associated with testicular germ cell tumor

artículo científico publicado en 2013

Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor. ⬇️

artículo científico publicado en 2017

Metastatic potential of melanomas defined by specific gene expression profiles with no BRAF signature

artículo científico publicado en 2006

MicroRNA expression profiling predicts clinical outcome of carboplatin/paclitaxel-based therapy in metastatic melanoma treated on the ECOG-ACRIN trial E2603.

artículo científico publicado en 2015

Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes

artículo científico publicado en 2011

Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers

artículo científico publicado en 2009

Molecular Stratification of Clear Cell Renal Cell Carcinoma by Consensus Clustering Reveals Distinct Subtypes and Survival Patterns

artículo científico publicado en 2010

Molecular testing in melanoma

artículo científico publicado en 2012

Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del

artículo científico publicado en 2009

Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood

artículo científico publicado en 2017

Multiple Gastrointestinal Polyps in Patients Treated with BRAF Inhibitors

artículo científico publicado en 2015

Multiple Vascular and Bowel Ruptures in an Adolescent Male with Sporadic Ehlers-Danlos Syndrome Type IV

scientific article published on 01 January 1999

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

artículo científico publicado en 2013

Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Network modeling links breast cancer susceptibility and centrosome dysfunction

artículo científico publicado en 2007

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

artículo científico publicado en 2015

No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2008

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

scientific article published on 11 December 2008

Non-cancer endpoints in BRCA1/2 carriers after risk-reducing salpingo-oophorectomy

artículo científico publicado en 2012

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

artículo científico publicado en 2012

PALB2 mutations in familial breast and pancreatic cancer

artículo científico publicado en 2011

PIM kinases as therapeutic targets against advanced melanoma

scientific article published on 19 July 2016

PTEN loss confers BRAF inhibitor resistance to melanoma cells through the suppression of BIM expression

artículo científico publicado en 2011

Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations

scientific article published on 14 May 2016

Pathway-based analysis of GWAs data identifies association of sex determination genes with susceptibility to testicular germ cell tumors

artículo científico publicado en 2014

Personalized Preclinical Trials in BRAF Inhibitor-Resistant Patient-Derived Xenograft Models Identify Second-Line Combination Therapies

artículo científico publicado en 2015

Phase I trial of hydroxychloroquine with dose-intense temozolomide in patients with advanced solid tumors and melanoma

artículo científico publicado en 2014

Phase II Trial of Temozolomide and Sorafenib in Advanced Melanoma Patients with or without Brain Metastases

artículo científico publicado en 2009

Pheochromocytoma and Paraganglioma Susceptibility Genes: Estimating the Associated Risk of Disease.

artículo científico publicado en 2017

Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background

artículo científico

Pheochromocytoma: the expanding genetic differential diagnosis

artículo científico publicado en 2003

Population Frequency of Germline BRCA1/2 Mutations.

artículo científico publicado en 2016

Postoperative ERCP versus laparoscopic choledochotomy for clearance of selected bile duct calculi: a randomized trial.

artículo científico publicado en 2005

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

artículo científico publicado en 2017

Predisposition alleles for Testicular Germ Cell Tumour

scientific article published on 19 March 2010

Prospective study of breast MRI in BRCA1 and BRCA2 mutation carriers: effect of mutation status on cancer incidence

artículo científico publicado en 2009

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

scientific article published on 23 September 2019

Quality of Life Following Laparoscopic Anterior 90° Versus Nissen Fundoplication: Results from a Multicenter Randomized Trial

article

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

artículo científico publicado en 2007

Rare cell variability and drug-induced reprogramming as a mode of cancer drug resistance

artículo científico publicado en 2017

Rare inactivating PDE11A variants associated with testicular germ cell tumors

artículo científico publicado en 2015

Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk

artículo científico publicado en 2017

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Resolving ATM haplotypes in whites

artículo científico publicado en 2003

Restricted expression of miR-30c-2-3p and miR-30a-3p in clear cell renal cell carcinomas enhances HIF2α activity

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Risk-Stratified Initial Salvage Therapy for Relapsed or Refractory Metastatic Germ Cell Tumors

artículo científico publicado en 2016

Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing

artículo científico publicado en 2000

Sequence of the rat alpha c large chain of the clathrin associated protein complex AP-2.

artículo científico publicado en 1990

Shared heritability and functional enrichment across six solid cancers

artículo científico publicado en 2019

Shared heritability and functional enrichment across six solid cancers

Somatic genetics of testicular cancer in relationship to prognosis

article

Subphenotype meta-analysis of testicular cancer genome-wide association study data suggests a role for RBFOX family genes in cryptorchidism susceptibility.

artículo científico publicado en 2018

Successful use of alternate waste nitrogen agents and hemodialysis in a patient with hyperammonemic coma after heart-lung transplantation

artículo científico publicado en 1999

Taking the guesswork out of uveal melanoma

artículo científico publicado en 2010

Targeting Notch enhances the efficacy of ERK inhibitors in BRAF-V600E melanoma

artículo científico publicado en 2016

Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23.

artículo científico publicado en 2013

The APCI1307K allele and breast cancer risk

artículo científico publicado en 1998

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

scientific article published on 01 November 2019

The FBXO4 tumor suppressor functions as a barrier to BRAFV600E-dependent metastatic melanoma

artículo científico publicado en 2013

The International Testicular Cancer Linkage Consortium: a clinicopathologic descriptive analysis of 461 familial malignant testicular germ cell tumor kindred

artículo científico publicado en 2009

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

artículo científico publicado en 2012

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2009

The Y deletion gr/gr and susceptibility to testicular germ cell tumor

artículo científico publicado en 2005

The anti-melanoma activity of dinaciclib, a cyclin-dependent kinase inhibitor, is dependent on p53 signaling

artículo científico publicado en 2013

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

artículo científico publicado en 2017

The mitogen-activated protein/extracellular signal-regulated kinase kinase inhibitor AZD6244 (ARRY-142886) induces growth arrest in melanoma cells and tumor regression when combined with docetaxel

artículo científico publicado en 2008

The molecular biology of renal cell carcinoma

artículo científico

The novel SMAC mimetic birinapant exhibits potent activity against human melanoma cells

artículo científico publicado en 2013

The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families

scientific article published on 14 August 2008

The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing

artículo científico publicado en 2011

The tuberous sclerosis complex

artículo científico publicado en 2006

The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.

artículo científico publicado en 2006

Therapeutic approaches for women predisposed to breast cancer

artículo científico publicado en 2011

Tissue resources for clinical use and marker studies in melanoma

artículo científico publicado en 2014

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

artículo científico publicado en 2020

Tumor genetic analyses of patients with metastatic melanoma treated with the BRAF inhibitor dabrafenib (GSK2118436).

artículo científico publicado en 2013

Tumor immunity and survival as a function of alternative neopeptides in human cancer

artículo científico publicado en 2018

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

artículo científico publicado en 2014

Uncommon filaggrin variants are associated with persistent atopic dermatitis in African Americans.

artículo científico publicado en 2018

Use of total abdominal hysterectomy and hormone replacement therapy in BRCA1 and BRCA2 mutation carriers undergoing risk-reducing salpingo-oophorectomy

artículo científico publicado en 2008

Using genetics and genomics strategies to personalize therapy for cancer: focus on melanoma

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility

artículo científico publicado en 2003

Von Hippel-Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood

artículo científico publicado en 2017

Whole-exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas

artículo científico publicado en 2015

Younger age-at-diagnosis for familial malignant testicular germ cell tumor

artículo científico publicado en 2009

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