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Wednesday, April 06, 2016

New Genetic Mutations for Hereditary Women's Cancers



New Genetic Mutations
 
....The recent discovery that the genetic mutation PALB2 is associated with an aggressive form of breast cancer, as well as the realization that the newer ovarian cancer genes RAD51C, RAD51D, and BRIP1 pose an added lifetime risk for ovarian cancer, should prompt physicians to discuss possible prophylactic procedures with patients who are found to carry these mutations, Tuya Pal, MD, from the Moffitt Cancer Center, Tampa, Florida, said here at the NCCN 21st Annual Conference.
"Within the past year, more data have emerged regarding these new genes for ovarian cancer risk. In the past, the NCCN recommendation to either recommend or consider risk-reducing salpingo-oophorectomy was limited to the presence of BRCA1, BRCA2 and Lynch syndrome," Dr Pal told Medscape Medical News.
"With BRCA1, the lifetime risk for ovarian cancer is up to 44%, with BRCA2, it is up to 27%, and for Lynch syndrome, our guess is around 10%. Now, based on multiple studies, we are saying there is a similar level of evidence, if not even more, to indicate a higher risk of ovarian cancer with BRIP1, RAD51C and RAD51D," she said.
Dr Pal noted that the NCCN guidelines are not recommending salpingo-oophorectomy when these genetic mutations are present, only that the possibility of the procedure should be discussed.....

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