PPM - BRCA1 and BRCA2-Associated Hereditary Breast and Ovarian Cancer-Description and References

Description and References

Pdf Summary

This document provides information on the evaluation and management of BRCA1 and BRCA2-associated hereditary breast and ovarian cancer. It is intended for medical geneticists. <br /><br />Individuals with a pathogenic variant in either BRCA1 or BRCA2 have a higher risk of developing breast and ovarian cancer. The lifetime risk of female breast and ovarian cancer in individuals with a BRCA1 pathogenic variant is 46-87% and 39-63%, respectively. For those with a BRCA2 pathogenic variant, the risk is slightly lower at 38-84% for breast cancer and 16.5%-27% for ovarian cancer. Males with a BRCA2 pathogenic variant also have an increased risk of breast cancer at 8.9%, compared to 1.2% with a BRCA1 pathogenic variant. Additionally, there is an elevated risk of other cancers such as prostate, pancreatic, and melanoma in individuals with these pathogenic variants. <br /><br />Diagnosis of BRCA1 and BRCA2-associated hereditary breast and ovarian cancer is confirmed through the identification of a germline heterozygous pathogenic variant in either of these genes. The majority of cases (66%) are associated with pathogenic variants in BRCA1, while the remaining 34% are associated with pathogenic variants in BRCA2. Once diagnosed, appropriate surveillance and prevention measures can be implemented, including prophylactic bilateral mastectomy and/or prophylactic salpingo-oophorectomy, to reduce the risk of malignancy. <br /><br />Relevant literature sources include the GeneReviews article by Petrucelli et al., the NCCN guidelines on genetic/familial high-risk assessment for breast, ovarian, and pancreatic cancers, and research articles on breast cancer prediction models and carrier probabilities for BRCA1 and BRCA2 mutations.

Keywords

BRCA1

BRCA2

hereditary breast and ovarian cancer

pathogenic variant

lifetime risk

breast cancer

ovarian cancer

prostate cancer

pancreatic cancer

melanoma