BRCA1, BRCA2, and Associated Cancer Risks and Management for Male Patients: Early Onset Cancers
A recent review article on BRCA1- and BRCA2- associated cancer risks and management of male patients updates and brings into focus information that has been covered far more extensively in the media than the risks for breast and ovarian cancer in women.
Half of all carriers of these cancer- predisposing inherited genetic variants occur in men, and they render them at an increased risk for early age-at-onset prostate, pancreatic, and male breast cancer. Knowledge of this inherited susceptibility is increasingly important with the recent development of targeted cancer therapies for breast, pancreatic, and prostate cancers associated with pathogenic BRCA1/2 mutations. Unfortunately, to date, because of less awareness among patients (and their doctors) of this association, only one-tenth as many men have undergone cancer genetic testing, even those with a strong family history of aggressive breast, ovarian, prostate, or pancreatic cancer.
The authors emphasize that identifying more male carriers would increase the chances for appropriate targeted cancer risk management, early cancer detection, and cancer treatment and also would provide useful information to help improve the risk assessment strategies and long-term outcomes for their family members.
BRCA1/2 pathogenic mutations occur in about 1 of 250 people and varies among racial and ethnic groups, being higher in those of European or Ashkenazi Jewish ancestry but occur among all races and ethnicities.
Men unaffected by cancer may meet the criteria for genetic testing if they have 1 or more blood relatives affected by a qualifying-cancer or if they meet other criteria. It is important to consider the family history of breast, ovarian, prostate, and pancreatic cancer on both maternal and paternal sides of the family, the approximate age atdiagnosis, and whether the cancer was lethal. Certain cancer subtypes, such-as acinar pancreatic cancer and triple- negative breast cancer, are additional-risk factors for hereditary cancer. It is also important to know whether any family members have been determined to have tested positive for cancer risk genes.
This “white paper” was funded by The BRCA Research & Cure Alliance (CureBRCA), founded by Michael and Tania Polsky (see Quest Summer/Fall 2022).
Cheng HH, et al. JAMA Oncol. doi:10.1001/jamaoncol.2024.2185, Published online July 25, 2024.