GENETICS AND BREAST CANCER RISK

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Genetic predisposition is the most significant risk factor for the development of breast cancer. Having a family history on either your maternal or paternal side may put you at a higher risk for developing the disease.

One of the most common gene mutations associated with breast cancer is the Hereditary Breast and Ovarian Cancer (HBOC) Syndrome. This includes the BRCA1 and BRCA2 mutations. With this syndrome, there is a 0.1% risk of developing breast cancer in the average population, but a 203% of risk in those of Ashkenazi Jewish decent.

However, we now know of many other genes that can increase the risk of breast cancer including ATM, CDH1, CHEK2, PALB2, PTEN, STK11, TP53. BRCA1 has the greatest association with breast and ovarian cancer and usually occurs with younger age onset. BRCA2 carriers are typically at a later age onset and most common with postmenopausal women. BRCA2 also has a strong association with male breast cancer. In addition, both men and women with BRCA1 and BRCA2 have a higher risk for pancreatic cancer. Consider testing if you have personal or family history of the following:

• Diagnosed with breast cancer before age 50
• Ovarian cancer at any age
• Breast cancer with both breasts or ipsilateral (same side recurrence)
• Both breast and ovarian cancer
• Male breast cancer at any age
• Women of Ashkenazi Jewish decent with breast or ovarian cancer at any age
• A previously identified BRCA1 or BRCA2 mutation in the family

 

HOW THE TEST IS DONE AT OUR CENTER

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At the Breast Center of Irvine, we use a very simple saliva collection method. It is imperative not to eat, drink, smoke or chew gum for 30 minutes prior to giving your sample. The collected cells sample is then sent to a laboratory to obtain DNA for testing. Your results are usually received within 2 weeks and will be sent to you and your primary healthcare physician. If preferable, a blood sample may be taken.