Today’s media is filled with information about breast and ovarian cancer. A woman’s risk of breast cancer by the age of 70 in the general population is 8% or 1 in 12 women. In the past year there has been some controversy regarding breast cancer screening protocols, but the majority of health organizations call for screening with mammography to begin at age 40. Annual breast exams by a health care professional are also recommended. Ovarian cancer in the general population is a rare event with <1% or 1 in 70 women diagnosed by age 70. Unfortunately, the majority of ovarian cancers are discovered at an advanced stage and there are no screening tests or protocols found to be successful at finding ovarian cancer at earlier stages.

When screening protocols are either nonspecific or in the case of ovarian cancer not significant the challenge has been to identify the patient’s who may be at greater risk. A thorough family history is an important weapon in the fight to identify those at greater risk for breast and ovarian cancer. It is equally important for a woman to have knowledge of both her maternal and paternal family history. In particular the history of close relatives defined as first-degree relatives (mother, sister, daughter) and second-degree relatives (grandmother, granddaughter, aunt, niece) is pertinent.

In recent years with mapping of the human genome a number of genes have been discovered that have relevance to human cancers. Two genes in particular, BRCA1 and BRCA2, have been linked to hereditary breast and ovarian cancer. Approximately 10% of ovarian cancers and 3-5% of breast cancers are due to mutations in BRCA1 and BRCA2. Women with mutations of one or both of these genes are at significantly greater risk of developing breast or ovarian cancer than the general population. The lifetime risk of a woman with either a BRCA1 or BRCA2 mutation for developing breast cancer is about 70%. A woman’s lifetime risk for ovarian cancer with a BRCA1 mutation is 40% and BRCA2 is 15%.

The American College of Obstetrics and Gynecology recommends genetic risk assessment for women who have a 20-25% chance of having an inherited predisposition for breast or ovarian cancer. This includes women with:

• A personal history of both breast and ovarian cancer
• Ovarian cancer and a close relative with ovarian or premenopausal breast cancer
• Ashkenazi (Eastern European) Jewish women with ovarian cancer or breast cancer at age 40 or younger
• Breast cancer at age 50 or younger with a close relative with ovarian cancer or male breast cancer

This list is not all inclusive and women with breast cancer before the age of 40, or ovarian cancer at any age have a 5-10% chance of carrying a BRCA1 or BRCA2 mutation as well.

The take home message here is that by far most breast and ovarian cancers are not due to BRCA1 or BRCA2 mutations. If your personal or family history of cancer is highly suggestive of a BRCA mutation than an assessment including genetic counseling, education, and possible genetic testing may be indicated. There are a number of commercially available BRCA tests. Although they do not cover all possible mutations of BRCA1 and BRCA2, they can be useful in showing who is at greatest risk. Please schedule an appointment and consult with your physician if you have additional questions.

Christopher E. Paoloni, M.D., F.A.C.O.G.