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Dokumenttyp:
journal article 
Autor(en):
Wappenschmidt, B; Fimmers, R; Rhiem, K; Brosig, M; Wardelmann, E; Meindl, A; Arnold, N; Mallmann, P; Schmutzler, RK 
Titel:
Strong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer. 
Abstract:
INTRODUCTION: Unclassified variants (UVs) of unknown clinical significance are frequently detected in the BRCA2 gene. In this study, we have investigated the potential pathogenic relevance of the recurrent UV S384F (BRCA2, exon 10). METHODS: For co-segregation, four women from a large kindred (BN326) suffering from breast cancer were analysed. Moreover, paraffin-embedded tumours from two patients were analysed for loss of heterozygosity. Co-occurrence of the variant with a deleterious mutation w...    »
 
Zeitschriftentitel:
Breast Cancer Res 
Jahr:
2005 
Band / Volume:
Heft / Issue:
Seitenangaben Beitrag:
R775-9 
Sprache:
eng 
Print-ISSN:
1465-5411 
TUM Einrichtung:
Frauenklinik und Poliklinik