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Article

Long-read DNA and RNA sequencing for inherited polyposis and colorectal cancer: cryptic intronic variants and multiple mutational mechanisms.

Journal of medical genetics - 19 Sept 2025

Jacobson Angela L, AbuRayyan Amal, Gulsuner Suleyman, Slater Haley, Anasiz Yagiz, Ahmad Sirajummuneer M, Lee Ming K, Mandell Jessica, Rettner Emily J, Konnick Eric Q, Pritchard Colin, King Mary-Claire, Walsh Tom, Shirts Brian H

Abstract excerpt

BACKGROUND: Molecular genetic diagnoses are critical to prevention and treatment of inherited polyposis and colorectal cancer. 19 genes responsible for these conditions are known, but many severely affected patients and families remain unsolved. Cryptic intronic variants that alter splicing of these genes and incomplete characterisation of recessive predisposition contribute to these diagnostic gaps. METHODS:...

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Share to Adenomatous Polyposis Coli
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40571398
DOI: 10.1136/jmg-2025-110851
PMCID: PMC12318545

Genes

APC
MLH3
MSH2
MUTYH

Provenance

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