JOURNAL OF FAMILIAL TUMORS
Online ISSN : 2189-6674
Print ISSN : 1346-1052
A Case of Hereditary Nonpolyposis Colorectal Cancer with Germline Mutation of hMLH1
[in Japanese] [in Japanese][in Japanese][in Japanese][in Japanese][in Japanese][in Japanese][in Japanese][in Japanese][in Japanese]
Author information
JOURNAL OPEN ACCESS

2005 Volume 5 Issue 1 Pages 45-50

Details
Abstract
The patient was a 51-year-old male. At the age of 35 years, he underwent surgery for cancer in the ascending colon at another hospital. In 2003, synchronous multiple cancers(3 cancers in the descending colon and 1 in the sigmoid colon)were detected in the remaining colon, and total resection of the remaining colon and ileorectal anastomosis were performed. His pedigree fulfilled the Amsterdam Criteria I and II; his father and younger brother had colorectal cancer and his grandmother had gastric cancer. Gene analysis demonstrated a missense mutation of exon 14 in hMLH1, which was a pathogenic mutation. In the future, strict surveillance should focus on possible cancer development in other organs. In addition, carrier diagnosis in this kindred is necessary. We hope that HNPCC gene analysis will make great progress in the near future and will be clinically utilized as an early diagnostic strategy.
Content from these authors
© 2005 The Japanese Society for Familial Tumors
Previous article Next article
feedback
Top