Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia.

摘要: Hereditary non-polyposis colorectal cancer (HNPCC), predominantly due to germline MLH1/MSH2 mutations, is the commonest form of hereditary (CRC), but data in Asians are sparse. We sequenced coding and promoter core regions CRC patients diagnosed below age 40, and/or with multiple primary cancers or familial clustering suggestive HNPCC, correlated deleterious mutations clinical tumour features. Forty-six Chinese, Malay Indian kindreds participated. Of 153 reported 46 kindreds, stomach (14%) urogenital (13%) were most common extracolonic cancers, whereas endometrial comprised only 7%. Eleven different MLH1 12 MSH2 identified, including nine novel four recurring Chinese. One was a compound heterozygote for an mutation. The mutation Malays Indians represents first these ethnic groups. Factors strongly associated Amsterdam criteria, family history MSI-high tumours, young alone poorly. Distinct molecular characteristics identified among Asian HNPCC may have important implications.