Recently mutations in the MYH gene have been associated with a milder form of adenomatous polyposis which is characterized by a variable level of colonic polyps ranging from a few to several hundred. In the context of HNPCC it is not unusual to identify patients with a smattering of polyps. The MYH gene product is involved in DNA repair and indeed the hMSH2/hMSH6 complex (both genes being essen...

BACKGROUND The marked variability in age at onset of colorectal cancer (CRC) in patients with hereditary nonpolyposis colorectal cancer (HNPCC) makes management decisions difficult. Environmental factors governing the phenotypic variability of cancer-associated syndromes such as HNPCC have not been elucidated. METHODS We determined whether tobacco use would alter CRC risk in carriers of HNPCC...

Background: Hereditary nonpolyposis colorectal cancer syndrome (HNPCC syndrome; also called Lynch syndrome) is one of the most common cancer predisposition syndromes. Most cases of cancer associated with this syndrome are due to the inheritance of germline mutations in genes that encode proteins required for DNA mismatch repair; defects in these proteins allow mutations to accumulate more rapid...

We performed a one–center cohort retrospective analysis of 1378 non-selected patients operated for colorectal cancer (CRC) in the years 1994 – 2013. For the purpose of this study we divided patients into three subdivisions reflecting their family history of HNPCC–associated cancers among firstand second-degree relatives. On detailed pedigree analysis of the families we identified 59 patients as...

BACKGROUND The incidence of hereditary nonpolyposis colon cancer (HNPCC) in the general population is not well defined because of the lack of large population-based studies. We characterized the incidence of HNPCC in a large, population-based cohort of colorectal cancer probands and analyzed the location of colorectal tumors. METHODS Of the participating 1134 probands from three counties in S...