Article
BRCA Share: A Collection of Clinical BRCA Gene Variants.
Human mutation - 1 Dec 2016
Béroud Christophe, Letovsky Stanley I, Braastad Corey D, Caputo Sandrine M, Beaudoux Olivia, Bignon Yves Jean, Bressac-De Paillerets Brigitte, Bronner Myriam, Buell Crystal M, Collod-Béroud Gwenaëlle, Coulet Florence, Derive Nicolas, Divincenzo Christina, Elzinga Christopher D, Garrec Céline, Houdayer Claude, Karbassi Izabela, Lizard Sarab, Love Angela, Muller Danièle, Nagan Narasimhan, Nery Camille R, Rai Ghadi, Revillion Françoise, Salgado David, Sévenet Nicolas, Sinilnikova Olga, Sobol Hagay, Stoppa-Lyonnet Dominique, Toulas Christine, Trautman Edwin, Vaur Dominique, Vilquin Paul, Weymouth Katelyn S, Willis Alecia, Eisenberg Marcia, Strom Charles M
Abstract excerpt
As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance of variants becomes ever more acute. Germline variants in the BRCA1 and BRCA2 genes can confer substantial lifetime risk of breast and ovarian cancer. Assessment of variant pathogenicity is a vital part of clinical genetic testing for these genes. A database of clinical observations of...
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