Article
Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.
Human genomics - 26 Jun 2017
Buzolin Ana Lígia, Moreira Caroline Mônaco, Sacramento Patricia Rossi, Oku Andre Yuji, Fornari Alexandre Ricardo Dos Santos, Antonio David Santos Marco, Quaio Caio Robledo D Angioli Costa, Baratela Wagner Rosa, Mitne-Neto Miguel
Abstract excerpt
BACKGROUND: Breast cancer is the most common among women worldwide, and ovarian cancer is the most difficult gynecological tumor to diagnose and with the lowest chance of cure. Mutations in BRCA1 and BRCA2 genes increase the risk of ovarian cancer by 60% and breast cancer by up to 80% in women. Molecular tests allow a better orientation for patients carrying these mutations, affecting prophylaxis, treatment, and...
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