Article
Impact of 226C>T MSH2 gene mutation on cancer phenotypes in two HNPCC-associated highly-consanguineous families from Kuwait: emphasis on premarital genetic testing.
Familial cancer - 1 Jan 2009
Marafie Makia J, Al-Awadi Sadiqa, Al-Mosawi Fatemah, Elshafey Alaa, Al-Ali Waleed, Al-Mulla Fahd
Abstract excerpt
Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) is one of the commonest cancer susceptibility syndromes. It is characterized by early onset colon cancer and a variety of extracolonic tumours. Germline mutations in the DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS1, and PMS2) are responsible for this disorder. Identifying an affected individual depends on the tumour histopathology, family...
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