Genomics and Health

Breast and Ovarian Cancer and Increased Risk Family History Patterns

The United States Preventive Services Task Force described the following family history patterns as having an increased risk for a BRCA1/2 mutation.

First-degree relatives: parents, sisters, brothers, children
Second-degree relatives: grandparents, aunts, uncles, nieces, nephews, grandchildren

Note: relatives should be from the same side of the family (mother’s or father’s).

 

For Women without Ashkenazi Jewish Ancestry

 

Family History Pattern	Example
Two first-degree relatives with breast cancer, one of whom received the diagnosis at age 50 years or younger	Sister with breast cancer at age 45 and mother with breast cancer at age 55
A combination of three or more first- or second-degree relatives with breast cancer regardless of age at diagnosis	Sister with breast cancer, two paternal aunts (father’s sisters) with breast cancer (any age)
A combination of both breast and ovarian cancer among first- and second-degree relatives	Mother with ovarian cancer (any age), maternal aunt (mother’s sister) with breast cancer at any age
A first-degree relative with bilateral breast cancer	Sister with cancer of the right breast at age 45, and cancer of the left breast at age 50
A combination of two or more first- or second-degree relatives with ovarian cancer regardless of age at diagnosis	Paternal aunt (father’s sister) and paternal grandmother (father’s mother) both with ovarian cancer
A first- or second-degree relative with both breast and ovarian cancer at any age	Mother diagnosed with breast cancer at age 48 and ovarian cancer at age 60
A history of breast cancer in a male relative	Paternal grandfather (father’s father) with breast cancer

 

For Women with Ashkenazi Jewish Ancestry

 

Family History Pattern	Example
Any first-degree relative with breast or ovarian cancer	Sister with breast cancer (any age)
Two second-degree relatives on the same side of the family with breast or ovarian cancer	Paternal aunt (father’s sister) and paternal grandmother (father’s mother) with breast cancer (any age)

Important Information to Consider:

• Most women with the family history patterns described above will not have a BRCA1/2 mutation.
• A small percentage of women who do have a BRCA1/2 mutation will not fit one of the family history patterns described above.
• Whenever possible, BRCA1/2 genetic testing in the family should start with a person who has already had breast or ovarian cancer.
• Because BRCA1/2 genetic testing is complex, the USPSTF recommends women be referred to a genetic counselor or other suitably trained health care provider to carefully evaluate their family history and discuss the benefits and limitations of testing.

Learn more about genetic counseling and evaluation for BRCA1/2 testing.

 

Keep reading to understand your risks for breast and ovarian cancer and whether genetic testing might be right for you:

• Family Health History
• Family History Risk Categories
• Genetic Testing Information and Recommendations Based on Family History
• Genetic Counseling and Evaluation for BRCA1/2 Testing
• Quick Facts about Family Health History, BRCA1/2 Genes, and Genetic Testing

 

The CDC Office of Public Health Genomics makes available the above information as a public service only. Providing this information does not constitute endorsement by the CDC.  Note that some links may become invalid over time.

Top of Page