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A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour

A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour
A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour
Desmoid tumours, also known as infiltrative fibromatoses, are rare benign tumours which often recur after local resection and can cause death through local infiltration of vital structures. The estimated incidence in the general population of such tumours is 1-2 per million but in familial adenomatous polyposis (FAP) they occur in up to 15% of cases. Likely precipitating factors include trauma and female sex hormones, since females are more often affected than males. The majority of desmoid tumours in FAP (over 90%) arise in the mesentery of the bowel or in the abdominal wall musculature. In recent years, several families have been described where the predominant phenotype is of desmoid disease and where the colonic phenotype is minimal. We describe another such family with a novel protein truncating mutation in the 3' end of the APC gene.
0022-2593
861-863
Eccles, Diana
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Harvey, John
a7328604-3a69-45c1-9538-d579dfa1fee8
Bateman, Adrian
35f5fef8-6358-42ff-b3c1-2ff226b4dc43
Ross, Fiona
ec0958f8-b992-4e4a-b7e3-c474600390ba
Eccles, Diana
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Harvey, John
a7328604-3a69-45c1-9538-d579dfa1fee8
Bateman, Adrian
35f5fef8-6358-42ff-b3c1-2ff226b4dc43
Ross, Fiona
ec0958f8-b992-4e4a-b7e3-c474600390ba

Eccles, Diana, Harvey, John, Bateman, Adrian and Ross, Fiona (2001) A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour. Journal of Medical Genetics, 38 (12), 861-863.

Record type: Article

Abstract

Desmoid tumours, also known as infiltrative fibromatoses, are rare benign tumours which often recur after local resection and can cause death through local infiltration of vital structures. The estimated incidence in the general population of such tumours is 1-2 per million but in familial adenomatous polyposis (FAP) they occur in up to 15% of cases. Likely precipitating factors include trauma and female sex hormones, since females are more often affected than males. The majority of desmoid tumours in FAP (over 90%) arise in the mesentery of the bowel or in the abdominal wall musculature. In recent years, several families have been described where the predominant phenotype is of desmoid disease and where the colonic phenotype is minimal. We describe another such family with a novel protein truncating mutation in the 3' end of the APC gene.

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Published date: 2001

Identifiers

Local EPrints ID: 26283
URI: http://eprints.soton.ac.uk/id/eprint/26283
ISSN: 0022-2593
PURE UUID: 5e7a4b9e-8f7f-41ea-940f-16eff4ddba1f
ORCID for Diana Eccles: ORCID iD orcid.org/0000-0002-9935-3169

Catalogue record

Date deposited: 24 Apr 2006
Last modified: 09 Jan 2022 02:38

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Contributors

Author: Diana Eccles ORCID iD
Author: John Harvey
Author: Adrian Bateman
Author: Fiona Ross

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