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Document type:
Journal Article; Article
Author(s):
Engert, S; Wappenschmidt, B; Betz, B; Kast, K; Kutsche, M; Hellebrand, H; Goecke, TO; Kiechle, M; Niederacher, D; Schmutzler, RK; Meindl, A
Title:
MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases.
Abstract:
We present a comprehensive analysis of 1,506 German families for large genomic rearrangements (LGRs) in the BRCA1 gene and of 450 families in the BRCA2 gene by the multiplex ligation-dependent probe amplification (MLPA) technique. A total of 32 pathogenic rearrangements in the BRCA1 gene were found, accounting for 1.6% of all mutations, but for 9.6% of all BRCA1 mutations identified in a total of 1,996 families, including 490 with small pathogenic BRCA1/2 mutations. Considering only high risk gr...    »
Journal title abbreviation:
Hum Mutat
Year:
2008
Journal volume:
29
Journal issue:
7
Pages contribution:
948-58
Language:
eng
Fulltext / DOI:
doi:10.1002/humu.20723
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/18431737
Print-ISSN:
1059-7794
TUM Institution:
Frauenklinik und Poliklinik
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