Cancer Genes and BRCA Testing – What Does It All Mean?

Many of you may have heard about the BRCA gene more than ever lately. Angelina Jolie  and all the media have definitely put the gene out in the mainstream. In case you don’t know, BRCA is a genetic mutation found to be a contributing factor in several types of cancer.

The lifetime risk of developing certain types of cancer is greatly increased for women and men who have the BRCA gene mutation. The good news is that only about 5-10 percent of women and 1 percent of men with breast or prostate cancer test positive for the gene; therefore, not everyone who is diagnosed with cancer needs to be tested.

The gene can be inherited from either your father or your mother, and if you meet any of the criteria, you can learn if you carry the BRCA1 or BRCA2 gene mutation by having genetic susceptibility testing. BRCAnalysis, one of the most common types of genetic testing, has become part of the diagnostic workup for people at increased risk for Hereditary Breast and Ovarian Cancer Syndrome (HBOC) ─ those diagnosed with breast or ovarian cancer or who have a significant family history that indicates a high risk for developing breast, ovarian, pancreatic or prostate cancer.

“Genetic testing is beneficial not only for the patient who has been diagnosed with cancer and carries the genes, but for other family members, as well,” said Grace Wang, M.D., medical oncologist at Advanced Medical Specialties. “Test results affect future generations, as we saw recently in the case of Angelina Jolie.” Ms. Jolie’s mother and her mother’s sister both had the BRCA1 genes and died of ovarian and breast cancer, respectively.

Ovary and breast removal as a result of genetic susceptibility testing for hereditary cancers has been available to the general public for about 13 years. Among those considered at increased risk for HBOC include people who have:

  • Breast cancer at age 50 or younger.
  • Ovarian cancer at any age.
  • Two primary cancers.
  • Male breast cancer.
  • Triple-negative breast cancer.
  • Pancreatic cancer with breast or ovarian cancer.
  • Ashkenazi Jewish ancestry with an HBOC-associated cancer.
  • Two or more relatives diagnosed with breast cancer, one under age 50.
  • Three or more relatives with breast cancer at any age.
  • A previously indentified BRCA mutation in the family.

Research indicates that women who carry the BRCA1 or BRCA2 gene have a 70-80 percent risk of developing breast cancer and a 25-50 percent risk of developing ovarian cancer over their lifetime. Their breast cancer risk drops to below 1 percent when they have their breasts removed. Men who carry one of the genes have a higher risk of developing breast or prostate cancer later in life. Knowing that you have the BRCA mutation can be lifesaving for you and your family.

According to Susan G. Komen, there are several options for lowering the risk of breast and ovarian cancer:

  • Taking a risk-lowering drug (tamoxifen or raloxifene)
  • Having a prophylactic mastectomy (removal of the breasts)
  • Having a prophylactic oophorectomy (removal of the ovaries)

“The decision to undergo testing is not an easy one,” Dr. Wang said. “Counseling is available. The decisions that a patient has to face after learning the results of the test are life-changing – not only for the patient, but for her family, as well.”

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