hereditary non-polyposis colorectal cancer type 3

hereditary non-polyposis colorectal cancer type 3

A rare form of hereditary non-polyposis colorectal cancer (HNPCC), an autosomal dominant condition (OMIM:600258) characterised by a marked increase in cancer susceptibility, with familial predisposition to early onset colorectal carcinoma and extra-colonic cancers of the GI, urological and female reproductive tracts.

Molecular pathology
A deletion in PMS1 gene, resulting in exon skipping coupled with a germline mutation in MSH2, is thought to cause the extremely rare cases designated as hereditary nonpolyposis colon cancer type 3.
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