Breast cancer is the most commonly diagnosed cancer among women. In most instances, the cause is unknown, but for one in 10 women with breast cancer, an inherited predisposition may be involved.

Genetic risk assessment for breast cancer should be considered if an individual:

  • Has been diagnosed with breast cancer at an early age (younger than 50)
  • Has been diagnosed with bilateral breast cancer
  • Has been diagnosed with breast cancer and another cancer, such as ovarian, pancreatic, colon, thyroid, stomach or melanoma Has family members with any of the above
  • Has a male relative diagnosed with breast or prostate cancer
  • Has been diagnosed with breast cancer and is of Ashkenazi Jewish descent

Inherited predisposition to breast cancer often occurs as part of a broader hereditary cancer syndrome. A number of hereditary breast cancer syndromes have been described, including:

  • Hereditary site-specific breast cancer syndrome
  • Hereditary breast/ovarian cancer syndrome
  • Cowden syndrome
  • Li-Fraumeni syndrome
  • Peutz-Jeghers syndrome
  • Muir-Torre syndrome

Each of these syndromes is associated with the inheritance of a mutation in a single gene, which confers increased risks for a particular spectrum of cancers. Genetic risk assessment and, in many cases, genetic testing can be used to diagnose these syndromes. The BRCA1 and BRCA2 genes are the most common breast cancer susceptibility genes.

Advantages of knowing you are at increased risk

  • Targeted detection strategies may help to identify cancers (breast and others) at an early stage, when treatment is more likely to be successful
  • Prevention options may exist for certain kinds of cancer
  • Identification of a genetic predisposition may allow other family members to clarify their own risk

How to find out if you are at increased risk

A genetic evaluation is a multi-step process that includes:

  • A review of your medical and family history
  • A physical examination for signs of a specific hereditary syndrome
  • Education and genetic counseling
  • Discussion of the risks, benefits and limitations of appropriate genetic tests
  • Interpretation of genetic test results
  • Discussion of options for early cancer detection and risk reduction
Did you know?

Simply being a woman is a major risk factor for developing breast cancer

  • One in eight women in the United States will get breast cancer in her lifetime
  • Maternal or paternal family history of breast cancer can be a major risk factor for the disease
  • If you are over age 40, have a mammogram each year
  • From age 20, women should do a monthly self breast exam immediately following a menstrual period
  • Postmenopausal women should perform a self breast exam at the same time each month
What you should look for
  • A painless lump or thickening in the breast, often found in the upper, outer quadrant of the breast or in the underarm area
  • Bleeding or discharge from the nipple
  • Thickening or puckering of the skin over the breast

If any of these symptoms persist, see your healthcare professional.

Read more on breast cancer.