Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations.

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.

journal_name

Int J Cancer

authors

Kairupan CF,Meldrum CJ,Crooks R,Milward EA,Spigelman AD,Burgess B,Groombridge C,Kirk J,Tucker K,Ward R,Williams R,Scott RJ

doi

10.1002/ijc.20983

keywords:

subject

Has Abstract

pub_date

2005-08-10 00:00:00

pages

73-7

issue

1

eissn

0020-7136

issn

1097-0215

journal_volume

116

pub_type

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