Benutzer: Gast  Login
Dokumenttyp:
journal article 
Autor(en):
Hellebrand, H; Sutter, C; Honisch, E; Gross, E; Wappenschmidt, B; Schem, C; Deissler, H; Ditsch, N; Gress, V; Kiechle, M; Bartram, CR; Schmutzler, RK; Niederacher, D; Arnold, N; Meindl, A 
Titel:
Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer. 
Abstract:
The Partner and Localizer of BRCA2 (PALB2) protein has been linked to Fanconi anemia and breast cancer predisposition. Here we present data of a comprehensive mutation screening of the PALB2 gene in 818 familial cases of breast cancer from Germany. By analyzing the entire coding region of PALB2, we found seven truncating mutations (six of them novel) in families tested negative for BRCA1/2-mutations. In addition, two novel potentially disease causing missense mutations were found. Remarkably, on...    »
 
Zeitschriftentitel:
Hum Mutat 
Jahr:
2011 
Band / Volume:
32 
Heft / Issue:
Seitenangaben Beitrag:
E2176-88 
Sprache:
eng 
Print-ISSN:
1059-7794 
TUM Einrichtung:
Frauenklinik und Poliklinik