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a DNA
Laboratory, Birmingham Heartlands Hospital, Yardley Green Road,
Bordesley Green, Birmingham B9 5PX, UK, b Department of Surgery, Queen Elizabeth
Hospital, Edgbaston, Birmingham B15 2TT, UK, c Department of Clinical Genetics, Birmingham
Women's Hospital, Edgbaston, Birmingham B15 2TG, UK
Correspondence to: Dr Wallis, Department of Regional Genetics, Birmingham Women's Hospital, Edgbaston, Birmingham B15 2TG, UK.
Received 26 February 1998;
Revised version accepted for publication 15 June
1998
BACKGROUND/AIMS
The development of
colorectal cancer and a variable range of extracolonic manifestations
in familial adenomatous polyposis (FAP) is the result of the dominant
inheritance of adenomatous polyposis coli (APC) gene mutations. In this
study, direct mutation analysis of the APC gene was performed to
determine genotype-phenotype correlations for nine extracolonic
manifestations and to investigate the incidence of APC mutations in
non-FAP colorectal cancer.
METHODSThe APC gene was analysed
in 190 unrelated FAP and 15 non-FAP colorectal cancer patients
using denaturing gradient gel electrophoresis, the protein truncation
test, and direct sequencing.
RESULTSChain terminating signals
were only identified in patients belonging to the FAP group (105 patients). Amino acid changes were identified in four patients, three
of whom belonged to the non-FAP group of colorectal cancer patients.
Genotype-phenotype correlations identified significant differences in
the nature of certain extracolonic manifestations in FAP patients
belonging to three mutation subgroups.
CONCLUSIONSExtended
genotypephenotype correlations made in this study may have the
potential to determine the most appropriate surveillance and
prophylactic treatment regimens for those patients with mutations associated with life threatening conditions. This study also provided evidence for the pathological nature of amino acid changes in APC
associated with both FAP and non-FAP colorectal cancer patients.
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