Article
Functional assays for analysis of variants of uncertain significance in BRCA2.
Human mutation - 1 Feb 2014
Guidugli Lucia, Carreira Aura, Caputo Sandrine M, Ehlen Asa, Galli Alvaro, Monteiro Alvaro N A, Neuhausen Susan L, Hansen Thomas V O, Couch Fergus J, Vreeswijk Maaike P G
Abstract excerpt
Missense variants in the BRCA2 gene are routinely detected during clinical screening for pathogenic mutations in patients with a family history of breast and ovarian cancer. These subtle changes frequently remain of unknown clinical significance because of the lack of genetic information that may help establish a direct correlation with cancer predisposition. Therefore, alternative ways of predicting the...
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