| Literature DB >> 20844547 |
Thomas Rio Frio1, Maria Haanpää, Carly Pouchet, Katri Pylkäs, Mikko Vuorela, Marc Tischkowitz, Robert Winqvist, William D Foulkes.
Abstract
MRG15 is a recently identified member of the BRCA multiprotein complex, essential for the maintenance of the genome integrity and DNA repair. The functional relationship between PALB2 and MRG15 makes MRG15 a strong candidate breast cancer susceptibility gene. We screened affected probands from 232 BRCA1/2-negative breast cancer families for mutations in MRG15. We identified seven previously unreported variants but in silico analyses revealed that none of these variants appears to modify the function of MRG15. Thus, it seems unlikely that any constitutional changes in MRG15 confer an increased risk for breast cancer.Entities:
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Year: 2010 PMID: 20844547 DOI: 10.1038/jhg.2010.112
Source DB: PubMed Journal: J Hum Genet ISSN: 1434-5161 Impact factor: 3.172