Genomics and Health

Breast and Ovarian Cancer and Genetic Testing

BRCA1 and BRCA2 (BRCA1/2) are genes that normally protect people from getting certain cancers. Women who inherit a mutation (mistake) in the BRCA1 or BRCA2 gene have a greatly increased risk to develop breast and/or ovarian cancer. Important steps can be taken to help lower the risk for cancer in these women. BRCA1/2 mutations are more likely to be present in families with a strong history of breast and/or ovarian cancer. Because mutations in BRCA1 or BRCA2 can be passed down from one generation to the next, they are said to cause hereditary breast and ovarian cancer or HBOC.
Genetic testing is available to determine if a woman has inherited a BRCA1 or BRCA2 mutation. However, because most breast and ovarian cancer is not caused by mutations in these genes, BRCA1/2 genetic testing will only be helpful for a small number of women.
The United States Preventive Services Task Force (USPSTF) has recommended that only women with increased risk family history patterns be referred for genetic counseling and evaluation for BRCA1/2 genetic testing. This 2005 recommendation is in the process of being updated. Access the USPSTF recommendations and clinical considerations.
To understand whether your family may fit one of the USPSTF “increased risk family history patterns,” you should collect the following information about both your mother’s and father’s sides of the family.

Number of close relatives with breast or ovarian cancer: mother, sister(s), daughter(s),
aunt(s), niece(s), and grand daughters.
Ages when the cancers were diagnosed.
Whether anyone had cancer of both breasts (bilateral).
Presence of breast cancer in a male relative.
Ashkenazi (Eastern European) Jewish ancestry.

Note: Update your family history on a regular basis and notify your doctor if additional cases of breast or ovarian cancer occur.