Improvements in genetic screening are making a range of cancers more treatable than ever before. By Kari Walker, RN, BSN

Tuesday, Oct. 1, 2013

Earlier this year, actress Angelina Jolie underwent a radical bilateral mastectomy after learning she was a carrier for the BRCA1 gene mutation. Before her decision, Jolie had an 87 percent chance of developing breast cancer by the time she reached age 70; women positive for BRCA1 and BRCA2 also have a 44 percent chance of developing ovarian cancer. For the Hollywood star, health and longevity superseded vanity.

Jolie’s mother died from ovarian cancer at the age of 56 in 2007. This family history prompted the actress to consider screening and take surgical action with her motivation her young children she wants to watch grow.

You don’t have to be a celebrity to get Jolie’s treatment. In Acadiana, BRCA1 and BRCA2 gene testing is just as important to local women (and men). Research shows 7 percent of breast cancer and 11-15 percent of ovarian cancers are caused by mutations in these genes, according to Myriad Genetics, one of the leaders in hereditary genetic testing. While women are the primary target for breast cancer, men can also develop the illness, and both can be candidates for testing.

Dr. Henry J. Kaufman IV, a surgical oncologist and general surgeon, treats an array of patients in his practice, but a majority of his cancer patients have breast cancer. Kaufman has practiced since 2005 at Lafayette General Medical Center, Our Lady of Lourdes Regional Medical Center and Park Place Surgical Hospital and has screened many of his patients for genetic mutation. He follows the National Comprehensive Cancer Network guidelines: any of his breast cancer patients under age 50 with a primary relative having a history of breast cancer or those under age 45 with breast cancer receive the test no matter their family history. In both instances, most insurance companies will cover the minimally invasive lab test of an oral swab.

Many of Kaufman’s patients test negative for BRCA1 and BRCA2, but he recalls a few years ago a female patient in her 30s testing positive for the mutation. Although the patient followed the initial plan of care — a lumpectomy followed by chemotherapy — the test results, which came later, prompted her to also undergo a more aggressive bilateral mastectomy with immediate surgical breast reconstruction. “We were able to take care of the cancer and then take care of her emotions and allow her to make the best decision,” Kaufman says. Later, the patient decided to undergo a removal of her ovaries and continues to receive colonoscopies to monitor her increased chances of developing ovarian or colorectal cancer.

According to Kaufman, there is also a trend to monitor BRCA1/BRCA2-positive patients for development of pancreatic cancer. “The biggest misconception is BRCA1 and BRCA2 [screening] is just for breast cancer — it’s a defect in a cancer suppressing gene,” stresses Kaufman. According to Kaufman, anyone meeting the NCCN guidelines whose cancer predates the BRCA1 and BRCA2 screening should also be tested.

“A woman now in her 50s might have had breast cancer in her 30s before [genetic testing]. She should consider testing to help herself and possibly her offspring,” Kaufman says.

In other words, it’s never too late to detect possible mutations from a past cancer to help loved ones prevent future cancers thanks to improvements in genetic research.

BRCA_Mutation_Graph_rev1

Who is a candidate for BRCA1/BRCA2 testing?

Personal History:
• Have you had breast cancer at age 50 or younger?
• Have you had ovarian cancer at any age?
• Are you a male who had breast cancer at any age?
• Are you of Ashkenazi Jewish descent and have a family history of breast, ovarian or pancreatic cancer?

Family History:
• Two cases of breast cancer in the same person or on the same side of the family
• Someone diagnosed with triple negative breast cancer at any age
• Someone diagnosed with pancreatic cancer and a hereditary-associated cancer (same person or on the same side of the family)
• Three or more family members with breast cancer on the same side of the family
• Any family member who tested positive for the BRCA1/BRCA2 mutation

Source: Myriad Genetics

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