Avtor/Urednik     Vodušek, Ana-Lina; Novaković, Srdjan; Stegel, Vida; Jereb, Berta
Naslov     Genotyping of BRCA1, BRCA2, p53, CDKN2A, MLH1 and MSH2 genes in a male patient with secondary breast cancer
Prevedeni naslov     Ugotavljanje genotipov BRCA1, BRCA2, p53, CDKN2A, MLH1 in MSH2 pri moškem s sekundarnim rakom dojke
Tip     članek
Vir     Radiol Oncol
Vol. in št.     Letnik 45, št. 4
Leto izdaje     2011
Obseg     str. 296-9
Jezik     eng
Abstrakt     Background. Some tumour suppressor genes (BRCA2) and mismatch repair genes (MSH2, MLH1) are correlated with an increased risk for male breast cancer. Case report. Our patient developed secondary breast cancer after the treatment for Hodgkin's disease in childhood. DNA was isolated from the patients' blood and screened for mutations, polymorphisms and variants in BRCA1, BRCA2, p53, CDKN2A, MLH1 and MSH2 genes. We found no mutations but common polymorphisms, and three variants in mismatch repair genes. Conclusions. Nucleotide variants c.2006-6T>C and p.G322D in MSH2 might be correlated with male breast cancer.
Deskriptorji     BREAST NEOPLASMS, MALE
GENES, BRCA1
GENES, P53
HODGKIN'S DISEASE
GENETIC SCREENING
ADULT