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- Title
Phenotypic characteristics associated with the APC gene I1307K mutation in Ashkenazi Jewish patients with colorectal polyps.
- Authors
Syngal S; Schrag D; Falchuk M; Tung N; Farraye FA; Chung D; Wright M; Whetsell A; Miller G; Garber JE; Syngal, S; Schrag, D; Falchuk, M; Tung, N; Farraye, F A; Chung, D; Wright, M; Whetsell, A; Miller, G; Garber, J E
- Abstract
<bold>Context: </bold>The I1307K mutation of the APC gene is found in approximately 6% of the Ashkenazi Jewish population and is associated with elevated risk of colorectal cancer. The incidence of the mutation in patients with colorectal adenomas is unknown.<bold>Objectives: </bold>To determine the carrier rate of the I1307K mutation in Ashkenazi Jewish patients with a history of colorectal polyps but without colorectal cancer and to compare phenotypic characteristics and family history of carriers vs noncarriers.<bold>Design, Setting, and Patients: </bold>A total of 231 patients who had at least 1 large bowel polyp diagnosed between January 1, 1992, and January 31, 1999, at 1 of 5 centers in Boston, Mass, were included, of whom 183 were Ashkenazi Jewish. DNA was isolated from cheek swab samples.<bold>Main Outcome Measures: </bold>Presence of the I1307K variant in the APC gene.<bold>Results: </bold>The I1307K variant was identified in 22 (14%) of 161 Ashkenazi Jewish patients with a history of adenomatous polyps and in 1 (5%) of 20 Ashkenazi Jewish patients with hyperplastic polyps. The phenotypic features of adenomas, family history of polyps, colorectal cancer, and other cancers were indistinguishable between I1307K carriers and noncarriers.<bold>Conclusions: </bold>The frequency of the APC I1307K mutation is elevated in Ashkenazi Jewish patients with adenomatous polyps, but not hyperplastic polyps. The I1307K mutation represents a novel paradigm for cancer-predisposing genes, as it is associated with moderately increased risk of neoplasia without other associated distinguishing phenotypic features. JAMA. 2000;284:857-860
- Publication
JAMA: Journal of the American Medical Association, 2000, Vol 284, Issue 7, p857
- ISSN
0098-7484
- Publication type
journal article
- DOI
10.1001/jama.284.7.857