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APC I1307K and clinical management: insights from UK Biobank association analysis of colorectal and other cancer risks in Ashkenazi and non-Ashkenazi whites

2025-04-04 genetic and genomic medicine Title + abstract only
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APC c.3920T>A; p.Ile1307Lys (I1307K), prevalent in individuals of Ashkenazi Jewish (AJ) origin, has been associated with a modestly increased colorectal cancer (CRC) risk. Clinical recommendations for I1307K heterozygotes vary across countries and expert groups, reflecting differences in population frequencies, modest risk estimates, and limited data in non-AJ individuals. We analyzed UK Biobank data comprising 466,315 individuals (8,727 with CRC), using genomic analysis to classify AJ and non-A...

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