Open AccessAssociation Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer
Author(s) -
Guido Neidhardt,
Jan Hauke,
Juliane Ramser,
Eva Groß,
Andrea Gehrig,
Clemens R. Müller,
AnneKarin Kahlert,
Karl Hackmann,
Ellen Honisch,
Dieter Niederacher,
Stefanie HeilmannHeimbach,
André Franke,
Wolfgang Lieb,
Hölger Thiele,
Janine Altmüller,
Peter Nürnberg,
Kristina Klaschik,
Corinna Ernst,
Nina Ditsch,
Frank Jessen,
Alfredo Ramı́rez,
Barbara Wappenschmidt,
Christoph Engel,
Kerstin Rhiem,
Alfons Meindl,
Rita K. Schmutzler,
Eric Hahnen
Publication year - 2016
Publication title -
jama oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 8.846
H-Index - 99
eISSN - 2374-2445
pISSN - 2374-2437
DOI - 10.1001/jamaoncol.2016.5592
Subject(s) - medicine , breast cancer , genetics , gene , cancer , oncology , biology
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 familial index cases and geographically matched controls is pending.
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