Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in MLH1: Case report.

ABSTRACT:

Background

MLH1 is one of six known genes responsible for DNA mismatch repair (MMR), whose inactivation leads to HNPCC. It is important to develop genotype-phenotype correlations for HNPCC, as is being done for other hereditary cancer syndromes, in order to guide surveillance and treatment strategies in the future.

Case presentation

We report a 47 year-old male with hereditary nonpolyposis colorectal cancer (HNPCC) associated with a novel germline mutation in MLH1. This patient expressed a rare and severe phenotype characterized by three synchronous primary carcinomas: ascending and splenic flexure colon adenocarcinomas, and ureteral carcinoma. Ureteral neoplasms in HNPCC are most often associated with mutations in MSH2 and rarely with mutations in MLH1. The reported mutatio

SUBMITTER: Valenzuela CD 

PROVIDER: S-EPMC2795749 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature