1例男性乳腺癌患者的临床特征及基因突变分析

目的对1例异时性男性乳腺癌和结肠癌患者及其家系成员进行基因突变分析,以明确病因,便于指导临床风险管理决策。方法采用全外显子测序技术对先证者外周血样本进行基因突变分析,结合表型资料,确定候选基因的可能致病位点。应用Sanger测序技术对先证者及其家系成员候选突变位点进行共分离验证。结果在先证者BRCA2基因第11号外显子中发现c.64026406delTAACT (p.Asn2134fs)杂合突变,该突变在乳腺癌信息中心(BIC)、ClinVar数据库中已有报道,为乳腺癌致病性突变。Sanger测序证实其儿子也为该突变的携带者,而其患结肠癌的母亲未检测到该突变。结论 BRCA2基因c.64026406delTAACT突变是该先证者乳腺癌的致病突变位点,而先证者及其母亲所患结肠癌可能为散发。

Clinical characteristics and gene mutation analysis of male breast cancer: a case report

Abstract: Objective: To illustrate the etiology and guide the clinical risk assessment and management, the gene mutations of one male patient with heterochronous breast cancer and colon cancer and his family members were analyzed. Methods: Gene mutation analysis of the peripheral blood sample from the patient was performed with the whole exome sequencing technology, and the possible pathogenic sites of candidate genes were determined by combining the phenotypic data. The candidate mutation sites of the patient and his family members were verified by Sanger sequencing. Results: A heterozygous mutation of c.6402_6406delTAACT (p.Asn2134fs) in BRCA2 gene of the patient was found, and the mutation, which was a pathogenic mutation of breast cancer, had been reported in the Breast Cancer Information Core (BIC) and ClinVar databases. Sanger sequencing confirmed that the mutation was also carried by his son, but was not detected in his mother with colon cancer. Conclusion: The mutation of c.6402_6406delTAACT in BRCA2 gene is the pathogenic mutation site of breast cancer in the patient, and the colon cancer in the patient and his mother may be sporadic.