Letters to the editor
A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour
Diana Ecclesa, John Harveyb, Adrian Batemanc, Fiona Rossba Wessex
Clinical Genetics Service, Princess Ann Hospital, Southampton SO16
5YA, UK, b Wessex Regional
Genetics Laboratory, Salisbury District Hospital, Wilts, UK, c Department of
Histopathology, Southampton General Hospital, Southampton, UK
Correspondence to: Dr Eccles, de1@soton.ac.uk
| The first 150 words of the full text of this article appear below. |
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Introduction |
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EDITOR
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.1 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.2 Likely precipitating factors include trauma and
female sex hormones, since females are more often affected than
males.3 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.3-6 We describe another such
family with a novel protein truncating mutation in the 3' end of the
APC gene.
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Methods and results |
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CLINICAL DETAILS
The index case presented at 29 years of age with a firm,
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