BRCA testing in males – pro
BRCA is best studied inthe setting of familial breast-ovarian cancer susceptibility. Reported risks for breast, prostate, pancreatic, gastric and hematologic cancers are higher in male BRCA mutation carriers vs non-carriers. Especially in male BRCA2 mutation carriers under age 65 prostate and pancreatic cancer risks are increased. The risk increase for primary cancers of organs like the liver, bone and brain is difficult to assess as these organs are common sites for metastases. Reports on colorectal cancer and melanoma risks are inconclusive.
Reported risks for breast, prostate, pancreatic, gastric and hematologic cancers are higher in male BRCA mutation carriers vs non-carriers. Especially in male BRCA2 mutation carriers under age 65 prostate and pancreatic cancer risks are increased. The risk increase for primary cancers of organs like the liver, bone and brain is difficult to assess as these organs are common sites for metastases. Reports on colorectal cancer and melanoma risks are inconclusive.
Currently there are no guidelines on which males are appropriate to screen with BRCA tests. Carcinoma of the male breast has many similarities to breast cancer in women, but the diseases have different genetic and pathologic features. Both BRCA1 and BRCA2 mutations can cause breast cancer in women, but only BRCA2 mutations confer a significant risk to men. Unfortunately, there are no established guideline on how to follow or whether and when to intervene in a male with BRCA. NCCN does not recommend BRCA testing in high risk individuals but it recommends Breast self exam education beginning at age 35, annual clinical breast exam beginning at age 35 and prostate cancer screening for BRCA2 mutation carriers beginning at age 45 -is recommended, and can be considered for BRCA1 mutation carriers.
If identified in a male, closer followup and possibly PSA screening would be appropriate. Without knowing what to do with the information on BRCA positivity, there is no basis for recommend BRCA testing for males, unless it can help determine a status of a female relative. There is no published clinical data or evidence-based guidelines on prophylactic mastectomy for men with a BRCA2 mutation or a family history of breast cancer.
Lu KH, Wood ME, Daniels M, et al. American Society of Clinical Oncology Expert Statement: Collection and Use of a Cancer Family History for Oncology Providers. J Clin Oncol. 2014;32(8):833-840.
NCCN, Screening 2016
H. Mohamad, J. Apffelstaedt Counseling for male BRCA mutation carriers a review
The Breast, Volume 17, Issue 5, Pages 441-450, 2008
Liede, Alexander, Karlan, Beth Y., Narod, Steven A.
Cancer Risks for Male Carriers of Germline Mutations in BRCA1 or BRCA2: A Review of the Literature J Clin Oncol 2004 22: 735-742
Wolpert N, Warner E, Seminsky MF, et al. Prevalence of BRCA1 and BRCA2 mutations in male breast cancer patients in Canada. Clin Breast Cancer. 2000;1(1):57-65.
Giordano SH, Buzdar AU, Hortobagyi G. Breast cancer in men. Ann Intern Med. 2002;137(8):678-687.
E. Castro et al, Germline BRCA Mutations Are Associated With Higher Risk of Nodal Involvement, Distant Metastasis, and Poor Survival Outcomes in Prostate Cancer Journal of Clinical Oncology 31, no. 14 (May 2013) 1748-1757.
H. Mohamad, J. Apffelstaedt Counseling for male BRCA mutation carriers a review
The Breast, Volume 17, Issue 5, Pages 441-450, 2008
Liede, Alexander, Karlan, Beth Y., Narod, Steven A.
Cancer Risks for Male Carriers of Germline Mutations in BRCA1 or BRCA2: A Review of the Literature J Clin Oncol 2004 22: 735-742
Wolpert N, Warner E, Seminsky MF, et al. Prevalence of BRCA1 and BRCA2 mutations in male breast cancer patients in Canada. Clin Breast Cancer. 2000;1(1):57-65.
Giordano SH, Buzdar AU, Hortobagyi G. Breast cancer in men. Ann Intern Med. 2002;137(8):678-687.