Back to Search
Start Over
Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer families.
- Source :
-
Journal of human genetics [J Hum Genet] 2010 Dec; Vol. 55 (12), pp. 842-3. Date of Electronic Publication: 2010 Sep 16. - Publication Year :
- 2010
-
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.
- Subjects :
- Adult
Aged
Aged, 80 and over
Breast Neoplasms epidemiology
DNA Mutational Analysis
Fanconi Anemia Complementation Group N Protein
Female
Genes, BRCA1
Genes, BRCA2
Humans
Middle Aged
Risk
Transcription Factors metabolism
Young Adult
Breast Neoplasms genetics
Genetic Predisposition to Disease
Nuclear Proteins metabolism
Transcription Factors genetics
Tumor Suppressor Proteins metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1435-232X
- Volume :
- 55
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Journal of human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 20844547
- Full Text :
- https://doi.org/10.1038/jhg.2010.112