Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer families View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-12

AUTHORS

Thomas Rio Frio, 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. More... »

PAGES

842

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2010.112

DOI

http://dx.doi.org/10.1038/jhg.2010.112

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1010371596

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/20844547


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