BRCA2, familial breast-ovarian cancer susceptibility 2

Symptoms

What are the main symptoms of Hereditary Breast and Ovarian Cancer syndrome caused by BRCA2 gene mutations?

The main symptom or feature of Hereditary Breast and Ovarian Cancer (HBOC) syndrome is an increased risk to develop cancer. The risks are highest for female breast cancer and ovarian cancer. The chance for a woman with a BRCA2 mutation to develop breast cancer by age 70 is between 45% - 47%. There is an increased risk for women with a BRCA2 gene mutation to develop a second breast cancer. The chance for a woman with a BRCA2 mutation to develop ovarian cancer by age 70 is between 11% and 17%. Men also have an increased risk to develop breast cancer and prostate cancer. More specifically, men with a BRCA2 mutation have a 6.8% risk to develop breast cancer by age 70 and a 20-34% risk to develop prostate cancer by age 80. Both men and women with a BRCA2 mutation also have an increased risk for pancreatic cancer and melanoma.

Multiple studies have been done to estimate cancer risks in men and women with BRCA2 gene mutations. Therefore risk numbers may vary somewhat and these estimates may change over time as more information is learned about BRCA2-associated cancer risks. Talk to a genetic counselor or other medical professional with expertise in HBOC to learn more about BRCA2-associated cancer risks.Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/breast-ovarian-cancer-familial-susceptibility-to-2/symptoms/5051 • DATE UPDATED: 2019-07-09

References

Chen, S and Parmigiani, G. Meta-Analysis of BRCA1 and BRCA2 Penetrance. J Clin Oncol. 2007; 25: 11: 1329-1333

www.ncbi.nlm.nih.gov/books/NBK1247/

Thompson D, Easton D, Breast Cancer Linkage Consortium. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet. 2001 Feb;68(2):410-9.

Tai YC, Domchek S, Parmigiani G, et al. Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2007;99:1811-1814.

Antoniou A, Pharoah PDP, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003;72:1117-1130.

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