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Document type:
journal article 
Author(s):
Neidhardt, Guido; Hauke, Jan; Ramser, Juliane; Groß, Eva; Gehrig, Andrea; Müller, Clemens R; Kahlert, Anne-Karin; Hackmann, Karl; Honisch, Ellen; Niederacher, Dieter; Heilmann-Heimbach, Stefanie; Franke, André; Lieb, Wolfgang; Thiele, Holger; Altmüller, Janine; Nürnberg, Peter; Klaschik, Kristina; Ernst, Corinna; Ditsch, Nina; Jessen, Frank; Ramirez, Alfredo; Wappenschmidt, Barbara; Engel, Christoph; Rhiem, Kerstin; Meindl, Alfons; Schmutzler, Rita K; Hahnen, Eric 
Title:
Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer. 
Abstract:
Germline mutations in established moderately or highly penetrant risk genes for breast cancer (BC) and/or ovarian cancer (OC), including BRCA1 and BRCA2, explain fewer than half of all familial BC and/or OC cases. Based on the genotyping of 2 loss-of-function (LoF) variants c.5101C>T (p.GIn1701Ter [rs147021911]) and c.5791C>T (p.Arg1931Ter [rs144567652]), the FANCM gene has been suggested as a novel BC predisposition gene, while the analysis of the entire coding region of the FANCM gene in famil...    »
 
Journal title abbreviation:
JAMA Oncol 
Year:
2017 
Journal volume:
Journal issue:
Pages contribution:
1245-1248 
Language:
eng 
Print-ISSN:
2374-2445 
TUM Institution:
Klinik und Poliklinik für Frauenheilkunde