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

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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