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Journal Article

Hereditary site-specific colon cancer in a Canadian kindred

B. H. Cameron, G. W. Fitzgerald and J. Cox
CMAJ January 01, 1989 140 (1) 41-45;
B. H. Cameron
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G. W. Fitzgerald
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J. Cox
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Abstract

A large kindred with colorectal cancer unaccompanied by polyposis coli and characterized by autosomal dominant inheritance has been identified in eastern Canada. Ten family members from three successive generations have presented 17 documented colorectal cancers. The clinical features of the kindred are characteristic of hereditary site-specific colon cancer (HSSCC) (Lynch syndrome I): absence of multiple polyposis, autosomal dominant inheritance, onset of colorectal cancer at an early age and a high incidence of synchronous and metachronous colorectal cancers. A unique feature of this family is the high incidence of sporadic adenomatous polyps in affected members and their relatives. Patients with HSSCC have been managed by means of segmental colectomy followed by annual colonoscopic surveillance. All five patients with localized (Dukes' stage A or B) cancer at initial diagnosis were alive and free of disease after 2 to 12 years of follow-up, although three had required further colonic resection for metachronous carcinomas. Five young family members without cancer have had sporadic adenomatous polyps removed and are being followed with annual colonoscopy. It is not known whether polypectomy will alter the subsequent incidence of colon cancer. Subtotal colectomy is recommended for patients with HSSCC because of the high incidence of multiple lesions. An aggressive screening protocol, including colonoscopy, is recommended for all adult first- and second-degree relatives of patients with HSSCC. Identification of a biomarker, which is currently being sought in this kindred, would help identify those at greatest risk of development of cancer and allow earlier intervention.

  • Copyright © 1989 by Canadian Medical Association
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1 Jan 1989
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Hereditary site-specific colon cancer in a Canadian kindred
B. H. Cameron, G. W. Fitzgerald, J. Cox
CMAJ Jan 1989, 140 (1) 41-45;

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Hereditary site-specific colon cancer in a Canadian kindred
B. H. Cameron, G. W. Fitzgerald, J. Cox
CMAJ Jan 1989, 140 (1) 41-45;
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