Article
BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.
Annals of oncology : official journal of the European Society for Medical Oncology - 1 Oct 2015
Eccles D M, Mitchell G, Monteiro A N A, Schmutzler R, Couch F J, Spurdle A B, Gómez-García E B
Abstract excerpt
BACKGROUND: Increasing use of BRCA1/2 testing for tailoring cancer treatment and extension of testing to tumour tissue for somatic mutation is moving BRCA1/2 mutation screening from a primarily prevention arena delivered by specialist genetic services into mainstream oncology practice. A considerable number of gene tests will identify rare variants where clinical significance cannot be inferred from sequence...
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