NEW HAVEN, Conn. (WTNH) – The U.S. Preventive Services Task Force is calling for more women to undergo testing for the genes BRCA 1 & 2. The risk of breast cancer increases when a mutation occurs.

Dr. Erin Hofstatter, Co-Director of the Cancer Genetics and Prevention Program at Yale Cancer Center says, that decision expands the list of those who need to be tested, “Right now of all of the people who qualify for BRCA testing, we’re only capturing about 30 percent of those patients at best.

Who should now undergo genetic testing for BRCA?

She says, “The guidelines suggest that any woman with a personal history of breast cancer or ovarian cancer, fallopian tube cancer or peritoneal cancer, if a woman has been diagnosed with one of those cancers that she talk to her doctor consider to be tested or women with a family history of any of those cancers. They also have specifically called out those women of Ashkenazi Jewish descent with any of those cancers in their family to be tested as well.”

What happens if the result is positive?

“There maybe treatment options now available to her that have proven to be very effective specifically in BRCA 1 & 2. It also has potential screening implications, for example a woman with a BRCA may start breast cancer screening at an earlier age as early as 25. She may want to do both mammogram and breast MRI every year,” explains Dr. Hofstatter.

Men get breast cancer too – does this apply to men as well?

“BRCA mutations can be inherited by either men or women,” answers Dr. Hofstatter, “It can be passed on by either men or women so yes it absolutely applies to men as well.”

Should patients with other cancers also get tested for BRCA?

Dr. Hofstatter says the latest standards are a good first step, but doesn’t go far enough, “They talk specifically about breast and ovarian cancer but we know that pancreatic cancer, prostate cancer, melanoma are also cancers that are associated with BRCA 1 & 2. Patients should be aware, if they have a family history that includes those too, you should be aware that this could be a possibility in your family”

It’s estimated that about 5 to 10 percent of breast cancers are caused by BRCA mutations.

Dr. Hofstatter says knowing your family history is key to all of this.

Be aware though that insurance does not always cover the BRCA genetic testing, which can start at $250. She highly recommends that it be done with genetic counseling so that you are fully informed of your options.

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