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Article

Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2015

Inra Jennifer A, Steyerberg Ewout W, Grover Shilpa, McFarland Ashley, Syngal Sapna, Kastrinos Fay

Abstract excerpt

PURPOSE: The aim of this study was to assess whether differences in frequency and phenotype of APC and MUTYH mutations exist among racially/ethnically diverse populations. METHODS: We studied 6,169 individuals with a personal and/or family history of colorectal cancer (CRC) and polyps. APC testing involved full sequencing/large rearrangement analysis (FS/LRA); MUTYH involved "panel testing" (for Y165C, G382D...

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Source

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Identifiers

PMID: 25590978
DOI: 10.1038/gim.2014.199
PMCID: PMC4904772

Genes

MUTYH
APC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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