Ten percent of all breast and ovarian cancer cases are hereditary. In fact, as many as 1 in 500 people carry a mutation in either the BRCA1 or the BRCA2 genes. 1 in 40 people of Ashkenazi Jewish descent (Eastern European) are mutation carriers. Individuals who carry a mutation in one of these genes face a dramatically increased risk of both breast and ovarian cancer. Fortunately there are medical management strategies that can reduce these risks and genetic testing is available to accurately identify mutation carriers.

Individuals who carry a BRCA1 or BRCA2 mutation face increased risks for initial cancers, up to 87% for breast cancer and up to 44% for ovarian cancer. Mutation carriers who have already had breast cancer face increased risks for second cancers, up to 64% for another breast cancer and a 16% risk for ovarian cancer. BRCA mutation carriers can reduce their risk and preempt cancer by altering their surveillance strategies.

Medical management options for BRCA mutation carriers include: increased surveillance, chemoprevention and prophylactic surgery. Self breast exams should begin between the ages of 18-21. Clinical breast exams, mammography, transvaginal ultrasound and CA-125 are recommended to begin between the ages of 25-35. Certain drugs such as tamoxifen and oral contraceptives have been associated with cancer risk reduction. Additionally, prophylactic mastectomy and oophorectomy also dramatically reduce a woman’s cancer risk.

Individuals who should be offered genetic risk assessment are those with a personal or family history of:

	Breast cancer diagnosed before age 50
	Ovarian cancer diagnosed at any age
	Male breast cancer
	Bilateral breast cancer
	Both breast and ovarian cancer
	Relatives of a BRCA mutation carrier

Mutations in BRCA1 and BRCA2 are inherited in an autosomal dominant pattern. First degree relatives are at 50% risk to carry the same mutation. Once a mutation has been detected in a family, other family members can be tested for the specific family mutation. Those family members testing positive for the known mutation are managed more aggressively. By contrast, individuals who did not inherit the family mutation are not at increased risk for cancer and may adhere to general population screening guidelines.

You can determine the chance of a BRCA1 and BRCA2 mutation based upon your patient's personal and family history by using the Myriad Prevalence Tables.

Click here to open the Mutation Prevalence Tables in PDF format.

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