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Updated: Oct 5, 2025

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
Published on: February 17, 2011
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants.
Shuai Li1,2,3, Valentina Silvestri4, Goska Leslie2
1Center for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia.
Pathogenic variants (PVs) in BRCA1 and BRCA2 genes increase the risk for male breast, pancreatic, and stomach cancers. These findings aid in refining cancer risk management for individuals with BRCA1/2 PVs.
Area of Science:
- Genetics and Genomics
- Oncology
- Preventive Medicine
Background:
- BRCA1 and BRCA2 gene mutations are known risk factors for breast and ovarian cancers.
- The association with other cancer types requires precise risk quantification for effective management.
Purpose of the Study:
- To provide precise age-specific risk estimates for cancers other than female breast and ovarian cancers in individuals with pathogenic variants (PVs) in BRCA1 and BRCA2.
- To inform cancer risk management strategies for carriers of BRCA1/2 PVs.
Main Methods:
- Utilized data from 3,184 BRCA1 and 2,157 BRCA2 families from the Consortium of Investigators of Modifiers of BRCA1/2.
- Estimated age-specific relative risks (RR) and absolute risks for 22 first primary cancer types.
- Adjusted for family ascertainment in the analyses.
Main Results:
- BRCA1 PVs associated with increased risks of male breast (RR=4.30), pancreatic (RR=2.36), and stomach (RR=2.17) cancers.
- BRCA2 PVs associated with increased risks of male breast (RR=44.0), stomach (RR=3.69), pancreatic (RR=3.34), and prostate (RR=2.22) cancers.
- Absolute risks to age 80 varied, e.g., 2.5% for pancreatic cancer (BRCA1) to 27% for prostate cancer (BRCA2).
Conclusions:
- BRCA1 and BRCA2 PVs are linked to increased risks of male breast, pancreatic, and stomach cancers, and prostate cancer (BRCA2 only).
- The study identified specific cancer risks beyond breast and ovarian cancers for BRCA1/2 PV carriers.
- These age-specific risk estimates will enhance cancer risk management for men and women with BRCA1/2 PVs.
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Published on: October 6, 2014
09:22Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
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