Breast Cancer Gene

There are some women that are at the highest risk to develop breast cancer. These women tend to have a hereditary form of breast. The most common form of hereditary breast is that which involves the BRCA mutation. BRCA stand for the BReast CAncer gene. There are two BRCA mutations that have been identified. Theses gene are named BRCA 1 and BRCA 2. Women with the BRCA 1 or 2 gene mutation have a 50 – 87% risk of developing breast cancer in their lifetime. These women also have a 20 -45% chance of developing ovarian cancer in their lifetime. (1) Lets find out how screening and treatment differs in this group of high risk woman.

Women with the BRCA 1 or BRCA 2 gene mutation could be screen for breast cancer at an earlier age. Screening for breast in these women can include with a breast MRI or mammogram. A breast MRI should be performed at the age of 25 in woman with BRCA mutations. Alternatively, a mammogram can be performed at the age of 30. (1,2) In order to determine if you require testing genetic testing for the BRCA gene, read our genetic testing blog.

The treatment for women with the BRCA mutation involves a further step in prevention. Since women with the BRCA gene mutation are at the highest risk of breast cancer, there is consideration if the breast and ovaries should be removed prior to the development of breast or ovarian cancer. This is called surgical prophylaxis and can be used as a prevention strategy to stop breast and ovarian cancer before it develops. Removal of both breasts, also known as a bilateral mastectomy, can decreased the risk of breast cancer by more than 90% in women with the BRCA mutation. Removal of the ovaries and its associated structures can decrease the risk of ovarian cancer by more than 80%. (1) Interestingly, the BRCA mutation is also seen in ovarian, prostate and pancreatic. Therefore, women and men with the BRCA gene can be affected by these cancers as well.

In all, women with the BRCA gene mutation are at significant risk for the development of breast and ovarian cancer in their lifetime. Removal of the breast and ovaries can be used as a preventive strategy to fight breast cancer in this high-risk group. Notwithstanding, such strategy is extremely personal and should be balanced against family planning considerations.

REFERENCES
1. In Alguire, P. C., & American College of Physicians, (2018). MKSAP 18: Medical knowledge self-assessment program.
2. Monticciolo DL, Newell MS, Moy L, Niell B, Monsees B, Sickles EA. Breast Cancer Screening in Women at Higher-Than-Average Risk: Recommendations From the ACR. J Am Coll Radiol. 2018 Mar;15(3 Pt A):408-414. doi: 10.1016/j.jacr.2017.11.034. Epub 2018 Jan 19. PMID: 29371086.