Unknown

Dataset Information

0

BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.

ABSTRACT: BACKGROUND:It is estimated that more than 20% of ovarian cancer cases are associated with a genetic predisposition that is only partially explained by germline mutations in the BRCA1 and BRCA2 genes. Recently, several pieces of evidence showed that mutations in three genes involved in the homologous recombination DNA repair pathway, i.e., BRIP1, RAD51C, and RAD51D, are associated with a high risk of ovarian cancer. To more precisely estimate the ovarian cancer risk attributed to BRIP1, RAD51C, and RAD51D mutations, we performed a meta-analysis based on a comparison of a total of ~?29,400 ovarian cancer patients from 63 studies and a total of ~?116,000 controls from the gnomAD database. RESULTS:The analysis allowed precise estimation of ovarian cancer risks attributed to mutations in BRIP1, RAD51C, and RAD51D, confirming that all three genes are ovarian cancer high-risk genes (odds ratio (OR)?=?4.94, 95%CIs:4.07-6.00, p 

SUBMITTER: Suszynska M 

PROVIDER: S-EPMC7196220 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.

Suszynska Malwina M   Ratajska Magdalena M   Kozlowski Piotr P  

Journal of ovarian research 20200502 1

<h4>Background</h4>It is estimated that more than 20% of ovarian cancer cases are associated with a genetic predisposition that is only partially explained by germline mutations in the BRCA1 and BRCA2 genes. Recently, several pieces of evidence showed that mutations in three genes involved in the homologous recombination DNA repair pathway, i.e., BRIP1, RAD51C, and RAD51D, are associated with a high risk of ovarian cancer. To more precisely estimate the ovarian cancer risk attributed to BRIP1, R  ...[more]

Similar Datasets

Unknown Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D.
| S-EPMC7735771 | biostudies-literature
Unknown Germline mutations in RAD51D confer susceptibility to ovarian cancer.
| S-EPMC4845885 | biostudies-literature
Unknown Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.
| S-EPMC4554751 | biostudies-literature
Unknown Clinical utility of hereditary cancer panel testing: Impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations.
| S-EPMC7003834 | biostudies-literature
Unknown Mutation status of RAD51C, PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations.
| S-EPMC5666035 | biostudies-literature
Unknown Structure and function of the RAD51B-RAD51C-RAD51D-XRCC2 tumour suppressor.
| S-EPMC7614784 | biostudies-literature
Unknown Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic.
| S-EPMC4461297 | biostudies-literature
Unknown Secondary Somatic Mutations Restoring RAD51C and RAD51D Associated with Acquired Resistance to the PARP Inhibitor Rucaparib in High-Grade Ovarian Carcinoma.
| S-EPMC5612362 | biostudies-literature
Unknown Germline <i>RAD51C</i> and <i>RAD51D</i> Mutations in High-Risk Chinese Breast and/or Ovarian Cancer Patients and Families.
| S-EPMC11355318 | biostudies-literature
Unknown RAD51C germline mutations in breast and ovarian cancer cases from high-risk families.
| S-EPMC3182241 | biostudies-literature