Abstract
We report a novel hMSH2 gene mutation in a HNPCC kindred who developed various malignant tumors other than colorectal cancer through four generations. The clinicopathologic background of this proband was determined, and germline mutations in the hMSH2 gene were determined by single-strand conformation polymorphism (SSCP) analysis and direct DNA sequencing. This 36-year-old woman was diagnosed with multiple synchronous and metachronous early colorectal cancers with endometrial cancer by endoscopic studies, natural history, ultrasound of the abdomen, and endometrial curettings. Colonoscopic examination subsequently revealed synchronous early colonic adenocarcinoma. She underwent endoscopic polypectomy following transabdominal hysterectomy, bilateral salpingo-oophorcctomy, and selective pelvic and para-aortic node excisions. Screening for germline mutations of the hMSH2 gene detected a novel frameshift mutation caused by a one-base (G) deletion in exon 11 of the hMSH2 gene. We report a kindred with HNPCC who developed various malignant tumors other than colorectal cancer through four generations. We detected a novel mutation in this HNPCC proband. These results may help us to identify presymptomatic patients with HNPCC.
