Have questions? Visit https://www.reddit.com/r/SNPedia


From SNPedia
(Redirected from I4000377(D;I))
BRCA1 (breast cancer) 185delAG carrier
Is agenotype
Merged fromRs796856605
Geno Mag Summary
(-;-) 6 185delAG BRCA1 mutation genotype
(-;AG) 6 BRCA1 (breast cancer) 185delAG carrier
(AG;AG) 0 common in clinvar

Your results report that you carry the 185delAG BRCA1 mutation. Your lifetime risk of breast cancer (for women) is increased from ~13% to ~81% and risk of ovarian cancer is increased from less than ~2% to over 50%. This SNP may significantly increase the risk of prostate cancer in men. There is also a somewhat increased risk for breast cancer in men from this genotype.

This is a genotype with recommended actions if clinically confirmed. In brief:

  • More frequent and more intensive screening for breast and ovarian cancer is recommended starting at perhaps age 25; however, screening has not been shown to reduce breast cancer incidence.
  • Prophylactic surgery (e.g. bilateral mastectomy or salpingo-oophorectomy) has been shown to substantially reduce the risk for, as well as mortality from, breast or ovarian cancer in both high-risk women and those who are BRCA mutation carriers.
  • Genetic counseling and/or testing is recommended for first-degree relatives as well as the same surveillance as carriers.

The full ClinGen Actionability report about Hereditary Breast and Ovarian Cancer can be found here.

Genetic counseling may be available to you through your health-care network. Additional information is available via our Find A Genetic Counselor webpage, located here.