Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer families.
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.
Rio Frio
Thomas
T
Program in Cancer Genetics, Department of Human Genetics and Department of Oncology, McGill University, Montreal, Quebec, Canada.
Haanpää
Maria
M
Pouchet
Carly
C
Pylkäs
Katri
K
Vuorela
Mikko
M
Tischkowitz
Marc
M
Winqvist
Robert
R
Foulkes
William D
WD
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D004252:DNA Mutational Analysis; D000076164:Fanconi Anemia Complementation Group N Protein; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009687:Nuclear Proteins / Q000378:metabolism*; D012306:Risk; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D025521:Tumor Suppressor Proteins / Q000378:metabolism*; D055815:Young Adult
D000076164:Fanconi Anemia Complementation Group N Protein; C470833:MORF4L1 protein, human; D009687:Nuclear Proteins; C512790:PALB2 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins