User: Guest  Login
Document type:
journal article 
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 
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. 
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:
Journal issue:
12 
Pages contribution:
e50800 
Language:
eng 
TUM Institution:
Frauenklinik und Poliklinik