对一名复发性乳腺癌男性患者的 BRCA1、BRCA2、p53、CDKN2A、MLH1 和 MSH2 基因进行基因分型。
Genotyping of BRCA1, BRCA2, p53, CDKN2A, MLH1 and MSH2 genes in a male patient with secondary breast cancer.
机构信息
Department of Radiation Oncology, Institute of Oncology, Ljubljana, Slovenia.
出版信息
Radiol Oncol. 2011 Dec;45(4):296-9. doi: 10.2478/v10019-011-0031-6. Epub 2011 Sep 22.
Abstract
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.
摘要
背景
一些肿瘤抑制基因（BRCA2）和错配修复基因（MSH2、MLH1）与男性乳腺癌的风险增加相关。
病例报告
我们的患者在儿童期治疗霍奇金病后发展为继发性乳腺癌。从患者的血液中分离出 DNA，并对 BRCA1、BRCA2、p53、CDKN2A、MLH1 和 MSH2 基因进行突变、多态性和变异筛查。我们没有发现突变，但发现了常见的多态性和错配修复基因中的三个变异。
结论
MSH2 中的核苷酸变异 c.2006-6T>C 和 p.G322D 可能与男性乳腺癌相关。
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