Clinical and screening implications of the I1307K adenomatous polyposis coli gene variant in Israeli Ashkenazi Jews with familial colorectal neoplasia. Evidence for a founder effect.
作者： Paul Rozen , Tova Naiman , Hana Strul , Philipp Taussky , Nataly Karminsky
DOI: 10.1002/CNCR.10529
关键词:
摘要: BACKGROUND The authors previously found the I1307K adenomatous polyposis coli (APC) gene variant in 5% of Ashkenazi control participants, 15.4% those who had familial colorectal neoplasia, but also 1.6% non-Ashkenazi participants. In this study, they evaluated its use a screening program for neoplasia and examined founder effect. METHODS Consecutive Ashkenazim with personal and/or family history DNA test. Markers flanking APC were carriers noncarriers. RESULTS Among 718 persons, occurred 6.2% 1.5% participants (P = 0.02), 10.7% (relative risk, 1.73 [not significant compared controls]; 95% confidence interval, 0.7–3.2). Colorectal was detected at younger age < 0.05) without excess risk multiple or noncolorectal neoplasia. attributable 0.5–0.6%. Compared noncarriers, both similar polymorphic alleles 0.01). CONCLUSIONS I1307K is low-penetrance genetic that indicates 1.7 relative have carcinoma, clinically equivalent to obtaining sporadic promoting early screening. Jews different ethnic origin, mainly Ashkenazim, it explains only partially their higher incidence carcinoma. Cancer 2002;94:2561–8. © 2002 American Society. DOI 10.1002/cncr.10529
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