BRCA Gene and Genetic Testing

Being informed about your family history of cancer is important to assess your risk.   Only 5 to 10 percent of all breast cancers are hereditary. Most hereditary breast and ovarian cancers occur because of a mutation in either the breast cancer susceptibility gene 1 (BRCA 1) or  breast cancer susceptibility gene 2 (BRCA 2).  Persons who have a mutation could have a 40% to 80% lifetime risk of developing breast, ovarian or related cancers. 

BRCA testing can be done via a blood sample or an oral rinse sampling. The samples must be sent to a specialized laboratory for the analysis.  The test will not tell you if you have cancer but will inform you and your family of the potential risk of developing hereditary cancer.  Knowing your risk allows you and your family to make informed decisions about their health and take preventative steps to minimize the possibility of developing cancer.  It is recommended that anyone considering testing should be counseled by a professional trained in genetic counseling.

 Not all women should be tested; only those considered high risk by the following criteria as listed on www.komen.org:

  • A strong family history of breast cancer at an early age (before 45 years old)
  • A family history of breast and ovarian cancers
  • A family history of male breast cancer
  • Ashkenazi Jewish heritage (who also have some family history of breast or ovarian cancer)
  • A personal history of breast cancer at an early age (before 45 years old)

Women at high risk should be screened annually with mammography, breast MRI, and ultrasound if indicated.  These exams should start 10 years before the earliest age a relative developed breast cancer but no later than age 40.  A pelvic and breast exam should be done by a healthcare provider annually beginning at age 20.  Any change the woman notices in her breast or changes in her family history should be reported to her healthcare provider.

Written by: Mary Saunders, RN, MSN, OCN

References/recommended links:
www.myriadtests.com
www.komen.org
www.cancer.gov
www.facingourrisk.org
www.bebrightpink.org