Risk for Non-Breast/Ovarian Cancer in Women and Men with BRCA1 or BRCA2 Mutations

A number of studies have assessed whether risks for other cancers (besides breast, ovarian, and prostate in men) may be elevated in individuals with BRCA1 or BRCA2 mutations.

Fallopian Tube Carcinoma and Primary Serous Carcinoma of the Peritoneum

Fallopian tube cancer and primary serous cancer of the peritoneum are both important components of the spectrum of gynecologic cancer that occurs in women with BRCA1/2 mutations.

Primary serous carcinoma of the peritoneum is a cancer that behaves similarly to ovarian cancer and can occur in a small percentage of women with BRCA1/2 mutations in the years after a prophylactic salpingo-oophorectomy (removal of the ovaries and fallopian tubes).

It has become clear over the last few years, particularly with increasing use of prophylactic salpingo-oophorectomy to prevent ovarian and breast cancer in women with BRCA1/2 mutations, that some cancers are arising from the fallopian tubes rather than the ovaries.  This has implications for both prophylactic surgical strategy and also what the pathology lab does when examining the tubes and ovaries after removal.

We’ll cover these issues in further detail here soon.  Stay tuned!

Pancreatic Cancer

Relatively strong evidence suggests that the risk of pancreatic cancer is elevated in families with mutations in either BRCA1 or BRCA2.  Additionally, in some families, the pancreatic cancer seems to occur earlier than is typical when it happens in people without BRCA1/2 mutations.  In terms of absolute risk, risk for pancreatic cancer is nowhere near as common in BRCA1/2 families as breast and ovarian cancer.

Other Cancers

Although some studies have suggested that risks of uterine cancer and colorectal cancer are higher in people with BRCA1/2 mutations, further studies have generally not confirmed this.

Some Key Fallopian Tube Carcinoma and Primary Papillary Serous Carcinoma of the Peritoneum References

Aziz S, Kuperstein G, Rosen B, et al. A genetic epidemiological study of carcinoma of the fallopian tube.  Gynecologic Oncology 2001; 80:341-5.

Callahan MJ, Crum CP, Medeiros F, et al. Primary fallopian tube malignancies in BRCA-positive women undergoing surgery for ovarian cancer risk reduction.  Journal of Clinical Oncology 2007; 25:3985-90.

Crum CP.  Intercepting pelvic cancer in the distal fallopian tube: theories and realities.  Molecular Oncology 2009; 3:165-70.

Finch A, Beiner M, Lubinski J, et al. Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 mutation.  JAMA 2006; 296:185-92.

Kauff ND, Barakat RR.  Risk-reducing salpingo-oophorectomy in patients with germline mutations in BRCA1 or BRCA2.  Journal of Clinical Oncology 2007; 25:2921-7.

Leeper K, Garcia R, Swisher E, et al. Pathologic findings in prophylactic oophorectomy specimens in high-risk women.  Gynecologic Oncology 2002; 87:52-6.

Levine DA, Argenta PA, Yee CJ, et al. Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations.  Journal of Clinical Oncology 2003; 21:4222-7.

Vicus D, Finch A, Rosen B, et al. Risk factors for carcinoma of the fallopian tube in women with and without a germline BRCA mutation.  Gynecologic Oncology 2010; 118:155-9.

Some Key Pancreatic Cancer References

Kim DH, Crawford B, Ziegler J, Beattie MS.  Prevalence and characteristics of pancreatic cancer in families with BRCA1 and BRCA2 mutations.  Fam Cancer 2009; 8:153-8.

Lynch HT, Deters CA, Snyder CL, et al. BRCA1 and pancreatic cancer: pedigree findings and their causal relationships.  Cancer Genetics and Cytogenetics 2005; 158:119-25.

Stadler ZK, Salo-Mullen E, Patil SM, et al. Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer.  Cancer 2011 May 19 (electronically published ahead of print)