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Lista de obras de Rita Katharina Schmutzler

11q13 is a susceptibility locus for hormone receptor positive breast cancer

artículo científico publicado en 2012

19p13.1 is a triple-negative-specific breast cancer susceptibility locus

artículo científico publicado en 2012

9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium

artículo científico publicado en 2012

A 24-color metaphase-based radiation assay discriminates heterozygous BRCA2 mutation carriers from controls by chromosomal radiosensitivity

artículo científico publicado en 2012

A BRCA1 promoter variant (rs11655505) and breast cancer risk

artículo científico publicado en 2010

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

article

A breast cancer risk haplotype in the caspase-8 gene

artículo científico publicado en 2009

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

artículo científico publicado en 2012

A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk

scientific article published on 18 November 2009

A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.

artículo científico publicado en 2014

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 of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

artículo científico publicado en 2012

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

artículo científico publicado en 2020

A network of clinically and functionally relevant genes is involved in the reversion of the tumorigenic phenotype of MDA-MB-231 breast cancer cells after transfer of human chromosome 8.

artículo científico publicado en 2005

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 transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

artículo científico publicado en 2018

A variant affecting a putative miRNA target site in estrogen receptor (ESR) 1 is associated with breast cancer risk in premenopausal women.

artículo científico publicado en 2008

A variant affecting miRNAs binding in the circadian gene Neuronal PAS domain protein 2 (NPAS2) is not associated with breast cancer risk.

artículo científico publicado en 2010

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

Activating somatic FGFR2 mutations in breast cancer

artículo científico publicado en 2013

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

artículo científico publicado en 2016

An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2008

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

artículo científico publicado en 2016

An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2016

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 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer

artículo científico publicado en 2016

Association analysis identifies 65 new breast cancer risk loci.

artículo científico publicado en 2017

Association of () polymorphisms with breast cancer risk

Association of ESR1 gene tagging SNPs with breast cancer risk

artículo científico publicado en 2009

Association of NCOA3 polymorphisms with breast cancer risk

artículo científico publicado en 2005

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 a common AKAP9 variant with breast cancer risk: a collaborative analysis

artículo científico publicado en 2008

Association of allelic losses on human chromosomal arms 11q and 16q in sporadic breast cancer

artículo científico publicado en 1996

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 death receptor 4 haplotype 626C-683C with an increased breast cancer risk.

artículo científico publicado en 2005

Association of death receptor 4 variant (683A > C) with ovarian cancer risk in BRCA1 mutation carriers

artículo científico publicado en 2011

Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

artículo científico publicado en 2016

Association of genetic variants in the Rho guanine nucleotide exchange factor AKAP13 with familial breast cancer.

artículo científico publicado en 2005

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

artículo científico publicado en 2021

Association of hormone receptor status with grading, age of onset, and tumor size in BRCA1-associated breast cancer

artículo científico publicado en 2009

Association of prolactin and its receptor gene regions with familial breast cancer.

artículo científico publicado en 2006

Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction with the CASP8 D302H variant.

artículo científico publicado en 2005

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

Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer

artículo científico publicado en 2006

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

article by Xiang Shu et al published 1 October 2018 in International Journal of Epidemiology

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

scientific article published on August 2012

BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance

artículo científico publicado en 2015

BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study

artículo científico publicado en 2007

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

artículo científico publicado en 2018

Basic and clinical aspects of GnRH-agonists in reproduction

artículo científico publicado en 1990

Benefits and risks of breast cancer screening

Breast MR imaging screening in 192 women proved or suspected to be carriers of a breast cancer susceptibility gene: preliminary results.

artículo científico publicado en 2000

Breast cancer in young women after treatment for Hodgkin's disease during childhood or adolescence--an observational study with up to 33-year follow-up

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

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

artículo científico publicado en 2014

Challenges to the Development of New Agents for Molecularly Defined Patient Subsets: Lessons FromBRCA1/2-Associated Breast Cancer

article

Characterization of the human Rad51 genomic locus and examination of tumors with 15q14-15 loss of heterozygosity (LOH)

artículo científico publicado en 1999

Chromosomal region 15q21.1 is a frequent target of allelic imbalance in advanced breast carcinomas

artículo científico publicado en 2003

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

artículo científico publicado en 2011

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 gene expression data from human and mouse breast cancers: identification of a conserved breast tumor gene set.

artículo científico publicado en 2007

Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer

artículo científico publicado en 2011

Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk

artículo científico publicado en 2007

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

scholarly article by Mia M Gaudet published in November 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

Cost-effectiveness of different strategies to prevent breast and ovarian cancer in German women with a BRCA 1 or 2 mutation

artículo científico publicado en 2017

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

artículo científico publicado en 2016

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 methylation array analyses identified breast cancer-associatedHYAL2methylation in peripheral blood

DNA methylation array analysis identifies breast cancer associated RPTOR, MGRN1 and RAPSN hypomethylation in peripheral blood DNA.

artículo científico publicado en 2016

Decreased expression of angiogenesis antagonist EFEMP1 in sporadic breast cancer is caused by aberrant promoter methylation and points to an impact of EFEMP1 as molecular biomarker

artículo científico publicado en 2009

Effects of lifestyle intervention in BRCA1/2 mutation carriers on nutrition, BMI, and physical fitness (LIBRE study): study protocol for a randomized controlled trial

artículo científico publicado en 2016

Efficacy and safety of olaparib monotherapy in germline BRCA1/2 mutation carriers with advanced ovarian cancer and three or more lines of prior therapy

artículo científico publicado en 2015

Epigenetic silencing of the candidate tumor suppressor gene PROX1 in sporadic breast cancer

artículo científico publicado en 2007

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 SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases

artículo científico publicado en 2010

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

scientific article published on February 2017

Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Evidence for a novel tumor suppressor gene on chromosome 15 associated with progression to a metastatic stage in breast cancer

artículo científico publicado en 1996

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

scientific article published on 03 September 2016

Exclusion of a major role for the PTEN tumour-suppressor gene in breast carcinomas

artículo científico publicado en 1999

Expression of the ATM gene is significantly reduced in sporadic breast carcinomas

artículo científico publicado en 1998

Expression of the tumor suppressor gene PTEN is not altered in the progression of ovarian carcinomas and does not correlate with p27Kip1 expression.

artículo científico publicado en 2003

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

Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46 XY-karyotype

artículo científico publicado en 2002

Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).

artículo científico publicado en 2016

Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

artículo científico publicado en 2016

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 identifies two additional breast cancer susceptibility loci at 9q31.2.

artículo científico publicado en 2015

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

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

artículo científico publicado en 2016

Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk

artículo científico publicado en 2015

Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.

artículo científico publicado en 2014

Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.

artículo científico publicado en 2013

Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium

artículo científico publicado en 2009

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

artículo científico publicado en 2016

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

artículo científico publicado en 2013

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.

artículo científico publicado en 2018

Genetic modifiers of CHEK2*1100delC-associated breast cancer risk

scientific article published on 06 October 2016

Genetic predisposition to ductal carcinoma in situ of the breast

artículo científico publicado en 2016

Genetic predisposition to in situ and invasive lobular carcinoma of the breast

artículo científico publicado en 2014

Genetic research in embryology

artículo científico publicado el 1 de junio de 1992

Genetic variants within miR-126 and miR-335 are not associated with breast cancer risk.

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

artículo científico publicado en 2014

Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium

artículo científico publicado en 2015

Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk

artículo científico publicado en 2007

Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

artículo científico publicado en 2016

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

artículo científico publicado en 2016

Genome-wide association analysis identifies three new breast cancer susceptibility loci

artículo científico publicado en 2012

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

artículo científico publicado en 2015

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

article

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

artículo científico publicado en 2013

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 of germline variants and breast cancer-specific mortality

artículo científico publicado en 2019

Genomic deletions in the BRCA1, BRCA2 and TP53 regions associate with low expression of the estrogen receptor in sporadic breast carcinoma

scientific article published on 01 June 1997

Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial

artículo científico publicado en 2017

Germline Mutations in Triple-Negative Breast Cancer

artículo científico publicado en 2017

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

artículo científico publicado en 2010

Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.

artículo científico publicado en 2011

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

Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

artículo científico publicado en 2015

Hereditary breast and ovarian cancer: new genes, new treatments, new concepts

artículo científico publicado en 2011

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity

artículo científico publicado en 2010

Identification of brain- and bone-specific breast cancer metastasis genes

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 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

Impact of Prophylactic Mastectomy in BRCA1/2 Mutation Carriers

artículo científico publicado en 2014

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

artículo científico

Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer

artículo científico publicado en 2006

Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Nummer 032/034-OL, April 2018) - Part 1 with Recommendations on the Epidemiology, Screening, Diagnosis and Hereditary Factors o

article published in 2018

Interdisciplinary Screening, Diagnosis, Therapy and Follow-up of Breast Cancer. Guideline of the DGGG and the DKG (S3-Level, AWMF Registry Number 032/045OL, December 2017) - Part 1 with Recommendations for the Screening, Diagnosis and Therapy of Brea

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

artículo científico publicado en 2011

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

artículo científico publicado en 2019

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

artículo científico publicado en 2015

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

artículo científico publicado en 2015

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

artículo científico publicado en 2013

Limited relevance of the CHEK2 gene in hereditary breast cancer

artículo científico publicado en 2004

Loss of heterozygosity (LOH) atp53 is correlated with LOH atBRCA1 andBRCA2 in various human malignant tumors

scientific article published on 01 October 2000

Low-risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients

artículo científico publicado en 2010

MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases

artículo científico publicado en 2008

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

artículo científico publicado en 2021

MicroRNA related polymorphisms and breast cancer risk

artículo científico publicado en 2014

Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls

artículo científico publicado en 2010

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

artículo científico publicado en 2013

New avenues in secondary and tertiary prevention of breast cancer

artículo científico publicado en 2015

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

artículo científico publicado en 2009

No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study

scientific article published on 04 June 2008

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

artículo científico publicado en 2015

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

scientific article published on 26 February 2016

Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2-germline mutation carrier: A case report and brief review of the literature.

artículo científico publicado en 2018

Nuclear receptor coregulator SNP discovery and impact on breast cancer risk

artículo científico publicado en 2009

Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation

artículo científico publicado en 2014

Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial

artículo científico publicado en 2010

Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial

artículo científico publicado en 2010

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

artículo científico publicado en 2012

PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.

artículo científico publicado en 2017

PTEN mutations do not cause nuclear beta-catenin accumulation in endometrial carcinomas

artículo científico publicado en 2004

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

artículo científico publicado en 2022

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

Patient-Centered Care in Breast Cancer Genetic Clinics

artículo científico publicado en 2018

Platinum sensitivity in a BRCA1 mutation carrier with advanced breast cancer

artículo científico publicado en 2009

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

artículo científico publicado en 2019

Polymorphisms in BRCA2 resulting in aberrant codon-usage and their analysis on familial breast cancer risk

artículo científico publicado en 2009

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

artículo científico publicado en 2015

Polymorphisms in genes involved in GH1 release and their association with breast cancer risk

artículo científico publicado en 2006

Polymorphisms in the Janus kinase 2 (JAK)/signal transducer and activator of transcription (STAT) genes: putative association of the STAT gene region with familial breast cancer

scientific article published on 01 June 2007

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

Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer

artículo científico publicado en 2016

Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1).

artículo científico publicado en 2017

Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history.

artículo científico publicado en 2018

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

artículo científico publicado en 2018

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

artículo científico publicado en 2018

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

artículo científico publicado en 2007

RAD51B in Familial Breast Cancer

artículo científico publicado en 2016

RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families

scientific article published on 20 December 2013

Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy

artículo científico publicado en 2008

Re: Association of a common variant of the CASP8 gene with reduced risk of breast cancer

artículo científico publicado en 2005

Real-time MR-guided wire localization of breast lesions by using an open 1.0-T imager: initial experience

artículo científico publicado en 2008

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

Risikofaktoren und Prävention des Mammakarzinoms

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.

artículo científico publicado en 2009

Risk-adapted surveillance: focus on familial breast and ovarian cancer

artículo científico publicado en 2014

Risk-reducing Surgery in Women at Risk for Familial Breast or Ovarian Cancer

artículo científico publicado en 2012

Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2017

SNPs in ultraconserved elements and familial breast cancer risk

scientific article published on 03 January 2008

Screening for ovarian cancer by transvaginal ultrasound and serum CA125 measurement in women with a familial predisposition: a prospective cohort study

artículo científico publicado en 2006

Sporadic breast carcinomas with somatic BRCA1 gene deletions share genotype/phenotype features with familial breast carcinomas

artículo científico publicado el 1 de septiembre de 2010

Strong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer

artículo científico publicado en 2005

Supplemental screening ultrasound increases cancer detection yield in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2013

Systematic identification and molecular characterization of genes differentially expressed in breast and ovarian cancer

artículo científico publicado en 2005

TP53-binding protein variants and breast cancer risk: a case-control study

artículo científico publicado en 2005

Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study

artículo científico publicado en 2014

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

artículo científico publicado en 2018

The CASP8 -652 6N del promoter polymorphism and breast cancer risk: a multicenter study

artículo científico publicado en 2007

The CpG island methylator phenotype in breast cancer is associated with the lobular subtype

artículo científico publicado en 2014

The Epidemiology and Aetiology of Female Breast Cancer ⬇️

artículo científico publicado el 24 de abril de 2009

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

scientific article published on 01 November 2019

The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With or Mutations

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 RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer

artículo científico publicado en 2016

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 association between breast cancer and S100P methylation in peripheral blood by multicenter case-control studies

artículo científico publicado en 2017

The functional genetic variant Ile646Val located in the kinase binding domain of the A-kinase anchoring protein 10 is associated with familial breast cancer

artículo científico

The rare ERBB2 variant Ile654Val is associated with an increased familial breast cancer risk

artículo científico publicado en 2004

The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study

artículo científico publicado en 2012

The single nucleotide polymorphism IVS1+309 in mouse double minute 2 does not affect risk of familial breast cancer.

artículo científico publicado en 2006

Transcription factor 7-like 2 (TCF7L2) variant is associated with familial breast cancer risk: a case-control study

artículo científico publicado en 2006

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

artículo científico publicado en 2020

Two truncating variants in FANCC and breast cancer risk

artículo científico publicado en 2019

Vacuum-Sealing as a Treatment Option for Severe Anthracycline Extravasation in a Breast Cancer Patient ⬇️

artículo científico publicado el 17 de octubre de 2008

[Counselling, genetic testing and prevention in women with hereditary breast- and ovarian cancer. Interdisciplinary recommendations of the consortium "Hereditary Breast- and Ovarian Cancer" of the German Cancer AiD].

artículo científico publicado en 2003

[Molekulargenetische Diagnostik - Was wissen die Maschinen? Was wollen wir wissen?]

artículo científico publicado en 2016

c-MYC Asn11Ser is associated with increased risk for familial breast cancer

artículo científico publicado en 2005

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