What Cancer Types are Associated with BRCA Mutations Beyond Breast and Ovarian?
BACKGROUND AND PURPOSE:
The relationship between pathogenic variants in BRCA1 and BRCA2 genes and breast, ovarian, pancreatic, and prostate cancer is well-established
Momozawa et al. (JAMA Oncology, 2022) evaluated the association of BRCA1 and BRCA2 pathogenic variants across 14 cancer types
Individuals in a multi-institutional hospital-based registry (BioBank Japan) between April 2003 and March 2018
Patients with 14 common cancer types
All patient data included DNA samples and clinical information
Germline pathogenic variants in BRCA1 and BRCA2 were identified by a multiplex PCR–based target sequence method
Associations of (likely) pathogenic variants with each cancer type were assessed by comparing pathogenic variant carrier frequency between patients in each cancer type and controls
BRCA1 and BRCA2 pathogenic variants associated with cancer type
Patients with cancer: 65,108 | Controls: 38,153
Patients with cancer: Mean age at diagnosis 64.1 years
Controls: Mean age at registration 61.8 years
Unique pathogenic variants identified: 315
Pathogenic variants in BRCA1 or BRCA2 were associated with at least 4-fold greater odds (P<1×10−4) for
Biliary tract cancer
BRCA1: OR 17.4 (95% CI, 5.8 to 51.9)
BRCA2: OR 5.6 (95% CI, 2.9 to 11.0)
BRCA1: OR 5.2 (95% CI, 2.6 to 10.5)
BRCA 2: OR 4.7 (95% CI, 3.1 to 7.1)
There was an enrichment of carrier patients according to the increased number of reported cancer types in relatives in
Biliary tract cancer
Female breast cancer
Pathogenic variants in BRCA1 and BRCA2 were associated with 7 different cancer types
Four established cancer types: breast, ovarian, prostate, pancreatic
Three new cancer types: Biliary tract, esophageal, gastric
The authors state
This large-scale registry-based case-control study of 63828 patients across 14 cancer types and 37086 population-matched and region-matched controls provided a broad view of carrier frequency, disease risk, family history, and clinical characteristics of pathogenic variant carriers
This information can potentially improve genetic testing of BRCA1 and BRCA2 for various cancer types for Asian countries and encourage similar research in other countries
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