Study reveals new genetic risk factor for breast cancer
By Christine VanTimmeren
OKLAHOMA CITY — A new study is revealing more about genetic risk factors for breast cancer. Because of that study, genetic counselors at Mercy Hospital are expanding testing."It's a full time job keeping up with what's happening and the data is coming out almost daily," said Dr. Alan Hollingsworth, Medical Director at Mercy Women's Center.Falling behind on the latest medical study is not an option for Dr. Hollingsworth and Dr. Julie Beasley. Dr. Beasley recently brought information back to Mercy about a groundbreaking genetic study authored by researcher Marc Tischkowitz."It's a brand new study that gave us a lot more about PALB2 and the actual risk related to breast cancer," Dr. Beasley said.PALB2 is a gene like BRCA1 and BRCA2 that can increase the risk for breast cancer if a mutation is present. Researchers discovered that risk just increased in PALB2."It really firmed up the breast cancer risk and put it into a little higher class than we had it previously," said Dr. Hollingsworth.A woman with a PALB2 mutation is 44% more likely to be diagnosed with breast cancer if they have no family history. It jumps up to 67% with a family history. Dr. Beasley says in the last year those statistics have changed how she advises patients."Since then we've been testing for PALB2 mutations much more frequently.""If you test positive, everyone else in the family becomes a candidate for testing," Dr. Hollingsworth said.For those who already have a family history of breast cancer, Dr. Hollingsworth says the genetic test holds priceless information. Many women say they don't want the testing because even if they knew the results, it wouldn't make a difference. Dr. Hollingsworth disagrees."We have lots of outcome data now to show you're much better off knowing and doing something about it than not testing."Dr. Hollingsworth says testing for PALB2 mutation is especially important for women previously diagnosed with cancer."Now we have people who've had bi-lateral lumpectomies, and carry the gene, they're now getting their third cancers. So it's just going to keep happening when you carry the gene."Dr. Hollingsworth says if you already did a genetic test for BRCA1 and BRCA2 and got a negative result, you may want to test again for PALB2. If any high risk mutation is found you can choose preventative surgery or aggressively screen to catch potential cancers early.
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