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Article

An update on APC I1307K homozygosity: observations from a large multigene panel testing cohort.

Familial cancer - 17 Sept 2026

Zaretsky Leah, Richardson Marcy E, Coleman Taylor, Horton Carrie, Trottier Magan, Feng Maggie, Polfus Linda M, Lucas Aimee L

Abstract excerpt

Numerous studies have demonstrated that Ashkenazi Jewish individuals heterozygous for APC c.3902T > A; p.Ile1307Lys have 1.7-fold increased odds of colorectal adenocarcinoma (CRC). The cancer risk for homozygotes is unknown, and published data is based on small sample sizes. Here, we aim to quantitatively evaluate the odds of CRC in homozygotes from a clinical diagnostic setting. Analyses comparing the...

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Topics

Humans
Homozygote
Female
Male
Adenomatous Polyposis Coli Protein
Adenocarcinoma

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Middle Aged

Colorectal Neoplasms, Hereditary Nonpolyposis

Genetic Predisposition to Disease

Jews

Heterozygote

Cohort Studies

Colorectal Neoplasms

DNA-Binding Proteins

Aged

Source

Open in PubMed Open full text

Identifiers

PMID: 42753012
DOI: 10.1007/s10689-026-00600-0
PMCID: PMC13585870

Genes

MSH6
APC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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An update on APC I1307K homozygosity: observations from a large multigene panel testing cohort.PMID 42753012Read ↗

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