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Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations
Author(s) -
Kairupan Carla F.,
Meldrum Cliff J.,
Crooks Renee,
Milward Elizabeth A.,
Spigelman Allan D.,
Burgess Bronwyn,
Groombridge Claire,
Kirk Judy,
Tucker Kathy,
Ward Robyn,
Williams Rachel,
Scott Rodney J.
Publication year - 2005
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/ijc.20983
Subject(s) - mutyh , germline , familial adenomatous polyposis , germline mutation , adenomatous polyposis coli , gene , colorectal cancer , medicine , mutation , gene mutation , cancer research , genetics , biology , cancer
Abstract The MYH gene has recently been shown to be associated with a recessive form of colorectal adenomatous polyposis. Two common mutations in the MYH gene have been identified that lend themselves to rapid screening. We have examined a series of 302 individuals comprising 120 control subjects, 120 patients diagnosed with adenomatous polyposis but without germline mutations in the APC gene and 62 patients diagnosed with familial adenomatous polyposis all harbouring confirmed causative APC germline mutations. The results reveal that MYH accounts for 16 percent of polyposis patients without germline mutations in the APC gene and that it does not appear to be a modifier gene in FAP patients diagnosed with APC germline mutations. © 2005 Wiley‐Liss, Inc.