ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes-Reference-Cited by-同舟云学术

ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

Published:2011-11-03 Issue:1 Volume:33 Page:2-7
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Spurdle Amanda B.,Healey Sue,Devereau Andrew,Hogervorst Frans B. L.,Monteiro Alvaro N. A.,Nathanson Katherine L.,Radice Paolo,Stoppa-Lyonnet Dominique,Tavtigian Sean,Wappenschmidt Barbara,Couch Fergus J.,Goldgar David E.,

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference28 articles.

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2. Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance;Chenevix-Trench;Cancer Res,2006

3. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes;Easton;Am J Hum Genet,2007

4. Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2;Eliseos;Hum Mutat,2011

5. Functional assays for classification of BRCA2 variants of uncertain significance;Farrugia;Cancer Res,2008

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