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Article

Colorectal tumors from APC*I1307K carriers principally harbor somatic APC mutations outside the A8 tract.

PloS one - 1 Jan 2014

Zauber Peter, Bishop Timothy, Taylor Claire, Sabbath-Solitare Marlene, Marotta Stephen, Tomlinson Ian

Abstract excerpt

PURPOSE: APC*I1307K (c.3920T>A) is an inherited variant associated with colorectal tumour risk found almost exclusively in those of Ashkenazi Jewish ancestry. A single nucleotide substitution creates an oligo-adenine tract (A8) that appears to be inherently prone to further mis-pairing and slippage. The reported multiple tumor phenotype of carriers is not easily reconciled with molecular and population genetics...

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Source

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Identifiers

PMID: 24416237
DOI: 10.1371/journal.pone.0084498
PMCID: PMC3886998

Genes

APC

Variants

Provenance

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