Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene
…, H Hellebrand, C Wiek, V Erven, B Wappenschmidt… - Nature …, 2010 - nature.com
Germline mutations in a number of genes involved in the recombinational repair of DNA
double-strand breaks are associated with predisposition to breast and ovarian cancer. RAD51C …
double-strand breaks are associated with predisposition to breast and ovarian cancer. RAD51C …
Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 …
…, AK Godwin, RK Schmutzler, B Wappenschmidt… - … Biomarkers & Prevention, 2012 - AACR
Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors
differ in their pathology. Analysis of larger datasets of mutation carriers should allow further …
differ in their pathology. Analysis of larger datasets of mutation carriers should allow further …
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
…, S Ellis, P Sharma, RK Schmutzler, B Wappenschmidt… - Jama, 2015 - jamanetwork.com
Importance Limited information about the relationship between specific mutations
inBRCA1orBRCA2(BRCA1/2) and cancer risk exists. Objective To identify mutation-specific cancer …
inBRCA1orBRCA2(BRCA1/2) and cancer risk exists. Objective To identify mutation-specific cancer …
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 …
…, MB Terry, RK Schmutzler, B Wappenschmidt… - Nature …, 2010 - nature.com
Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this
risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 …
risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 …
ENIGMA—evidence‐based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with …
…, S Tavtigian, B Wappenschmidt… - Human …, 2012 - Wiley Online Library
As genetic testing for predisposition to human diseases has become an increasingly
common practice in medicine, the need for clear interpretation of the test results is apparent. …
common practice in medicine, the need for clear interpretation of the test results is apparent. …
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants
…, S Wang-Gohrke, B Wappenschmidt… - Journal of Clinical …, 2022 - ascopubs.org
PURPOSE To provide precise age-specific risk estimates of cancers other than female breast
and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for …
and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for …
Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer
K Kast, K Rhiem, B Wappenschmidt… - Journal of medical …, 2016 - jmg.bmj.com
Purpose To characterise the prevalence of pathogenic germline mutations in BRCA1 and
BRCA2 in families with breast cancer (BC) and ovarian cancer (OC) history. Patients and …
BRCA2 in families with breast cancer (BC) and ovarian cancer (OC) history. Patients and …
Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores
…, S Wang-Gohrke, B Wappenschmidt… - Journal of Clinical …, 2017 - ascopubs.org
Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men.
Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We …
Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We …
Evaluation of SNPs in miR‐146a, miR196a2 and miR‐499 as low‐penetrance alleles in German and Italian familial breast cancer cases
…, K Hemminki, C Sutter, B Wappenschmidt… - Human …, 2010 - Wiley Online Library
Recently, the SNPs rs11614913 in hsa‐mir‐196a2 and rs3746444 in hsa‐mir‐499 were
reported to be associated with increased breast cancer risk, and the SNP rs2910164 in hsa‐mir‐…
reported to be associated with increased breast cancer risk, and the SNP rs2910164 in hsa‐mir‐…
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 …
…, N Ditsch, C Ruckert, B Wappenschmidt… - Cancer …, 2018 - Wiley Online Library
The prevalence of germ line mutations in non‐ BRCA 1/2 genes associated with hereditary
breast cancer ( BC ) is low, and the role of some of these genes in BC predisposition and …
breast cancer ( BC ) is low, and the role of some of these genes in BC predisposition and …