Genetic Evaluation

Approximately 5-10 percent of women who develop breast cancer have inherited an alteration (mutation) in a breast cancer susceptibility gene. Families which carry alterations in the most common susceptibility genes, BRCA1 and BRCA2, are often characterized by multiple family members with breast cancer (often diagnosed at young ages), women with breast cancer in both breasts, men with breast cancer, and individuals with other types of cancer such as ovarian cancer and prostate cancer. 

A careful examination of the family tree (also known as a pedigree) provides clues about the possible causes of increased cancer within a family. Genetic counselors are available to perform genetic risk assessments, including constructing a pedigree to determine who may benefit from genetic testing. Genetic testing can determine if someone has inherited an alteration in a breast cancer susceptibility gene that would impact the individual's risk of developing certain types of cancer.

Our genetic counselors can:

• Determine what genetic test is most appropriate given an individual's personal and family history of cancer 
• Discuss the risks and benefits of undergoing genetic testing 
• Explain how different genetic alterations impact an individual's lifetime risk of developing breast and possibly other cancers 
• Assist with determining whether or not health insurance covers this testing
• In conjunction with a physician, discuss how the test results might be used to design a personalized screening and risk-reducing health plan

Eligible individuals may enroll in clinical trials designed to develop new prevention therapies/medicines for breast cancer and improve our understanding of the biology of this type of disease.

If you meet any of the following criteria, we highly recommend that you schedule an appointment for a genetic risk assessment:

• Personal history of breast cancer diagnosed at age 45 or younger
• Personal history of two or more breast cancers if one was diagnosed at age 50 or younger
• Personal history of triple-negative breast cancer diagnosed at age 60 or younger
• Ashkenazi Jewish ancestry and personal or family history of breast cancer
• A close family member who meets one of the previous criteria
• At least three family members with breast cancer
• Personal or family history of ovarian cancer
• A close family member with male breast cancer, ovarian cancer, aggressive prostate cancer, or pancreatic cancer 
• A known genetic mutation in the family

More information about genetic changes associated with an increased risk of breast cancer can be found at the following web sites:

• FORCE (Facing Our Risk of Cancer Empowered)
• National Cancer Institute