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Title:

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

Document type:
Journal Article; Research Support, Non-U.S. Gov't
Author(s):
Wappenschmidt, B; Becker, AA; Hauke, J; Weber, U; Engert, S; Köhler, J; Kast, K; Arnold, N; Rhiem, K; Hahnen, E; Meindl, A; Schmutzler, RK
Abstract:
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-predisposing mutations. Especially the presence of intronic or exonic variants within these genes that possibly affect proper pre-mRNA processing poses a challenge as their functional implications are n...     »
Journal title abbreviation:
PLoS ONE
Year:
2012
Journal volume:
7
Journal issue:
12
Pages contribution:
e50800
Language:
eng
Fulltext / DOI:
doi:10.1371/journal.pone.0050800
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/23239986
Print-ISSN:
1932-6203
TUM Institution:
Frauenklinik und Poliklinik
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