Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients
<p>Abstract</p> <p>The autosomal-dominant precancerous condition familial adenomatous polyposis (FAP) is caused by germline mutations in the tumour suppressor gene <it>APC</it>. Consistent correlations between the site of mutations in the gene and clinical phenotype hav...
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doaj-cb5d6340d62d40db8c8bcb6183d6156d2020-11-25T00:20:55ZengBMCHereditary Cancer in Clinical Practice1897-42872005-09-01339511410.1186/1897-4287-3-3-95Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis PatientsFriedl WaltrautAretz Stefan<p>Abstract</p> <p>The autosomal-dominant precancerous condition familial adenomatous polyposis (FAP) is caused by germline mutations in the tumour suppressor gene <it>APC</it>. Consistent correlations between the site of mutations in the gene and clinical phenotype have been published for different patient groups. We report our experiences of <it>APC </it>mutation analysis and genotype-phenotype correlations in 1166 unrelated polyposis families and discuss our results in the light of literature data. We show that the mutation detection rates largely depend on the family history and clinical course of the disease. We present a list of 315 different point mutations and 37 large deletions detected in 634 of the 1166 index patients. Our results confirm previously published genotype-phenotype correlations with respect to the colorectal phenotype and extracolonic manifestations. However, 'exceptions to the rule' are also observed, and possible explanations for this are discussed. The discovery of autosomal-recessive <it>MUTYH</it>-associated polyposis (MAP) as a differential diagnosis to FAP implies that some results have to be reinterpreted and surveillance guidelines in the families have to be reevaluated.</p> http://www.hccpjournal.com/content/3/3/95familial adenomatous polyposis<it>APC </it>gene<it>APC </it>mutationsgenotype-phenotype correlations |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Friedl Waltraut Aretz Stefan |
spellingShingle |
Friedl Waltraut Aretz Stefan Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients Hereditary Cancer in Clinical Practice familial adenomatous polyposis <it>APC </it>gene <it>APC </it>mutations genotype-phenotype correlations |
author_facet |
Friedl Waltraut Aretz Stefan |
author_sort |
Friedl Waltraut |
title |
Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients |
title_short |
Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients |
title_full |
Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients |
title_fullStr |
Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients |
title_full_unstemmed |
Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients |
title_sort |
familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients |
publisher |
BMC |
series |
Hereditary Cancer in Clinical Practice |
issn |
1897-4287 |
publishDate |
2005-09-01 |
description |
<p>Abstract</p> <p>The autosomal-dominant precancerous condition familial adenomatous polyposis (FAP) is caused by germline mutations in the tumour suppressor gene <it>APC</it>. Consistent correlations between the site of mutations in the gene and clinical phenotype have been published for different patient groups. We report our experiences of <it>APC </it>mutation analysis and genotype-phenotype correlations in 1166 unrelated polyposis families and discuss our results in the light of literature data. We show that the mutation detection rates largely depend on the family history and clinical course of the disease. We present a list of 315 different point mutations and 37 large deletions detected in 634 of the 1166 index patients. Our results confirm previously published genotype-phenotype correlations with respect to the colorectal phenotype and extracolonic manifestations. However, 'exceptions to the rule' are also observed, and possible explanations for this are discussed. The discovery of autosomal-recessive <it>MUTYH</it>-associated polyposis (MAP) as a differential diagnosis to FAP implies that some results have to be reinterpreted and surveillance guidelines in the families have to be reevaluated.</p> |
topic |
familial adenomatous polyposis <it>APC </it>gene <it>APC </it>mutations genotype-phenotype correlations |
url |
http://www.hccpjournal.com/content/3/3/95 |
work_keys_str_mv |
AT friedlwaltraut familialadenomatouspolyposisexperiencefromastudyof1164unrelatedgermanpolyposispatients AT aretzstefan familialadenomatouspolyposisexperiencefromastudyof1164unrelatedgermanpolyposispatients |
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1725364956230057984 |