Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.

Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.

Screening for pathogenic mutations in breast and ovarian cancer genes such as BRCA1/2, CHEK2 and RAD51C is common practice for individuals from high-risk families. However, test results may be ambiguous due to the presence of unclassified variants (UCV) in the concurrent absence of clearly cancer-pr...

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Main Authors: Barbara Wappenschmidt, Alexandra A Becker, Jan Hauke, Ute Weber, Stefanie Engert, Juliane Köhler, Karin Kast, Norbert Arnold, Kerstin Rhiem, Eric Hahnen, Alfons Meindl, Rita K Schmutzler
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3519833?pdf=render

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