| Geno
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Mag
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Summary
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| (C;G)
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7
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Much higher risk for colorectal cancer
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rs483352909, also known as c.1270C>G, p.Leu424Val and L424V, represents a very rare variant in the POLE gene on chromosome 12.
The rs483352909(G) allele, as oriented in dbSNP and in the cDNA designation, represents the most common POLE gene mutation associated with a very significantly (>50 fold) increase in risk for colorectal cancer. In a 2017 publication, carriers of a rs483352909(G) mutation had an estimated cumulative risk of developing CRC by age 70 years of 97% (CI: 85%–99%) for males and 92% (CI: 75%–99%) for females.[PMID 29120461
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Note: as a C/G mutation oriented on the minus strand in dbSNP, be wary of ambiguous flips when interpreting data from this SNP.
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