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Article

Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing.

The Journal of molecular diagnostics : JMD - 1 Jul 2017

Rey Jean-Marc, Ducros Vincent, Pujol Pascal, Wang Qing, Buisine Marie-Pierre, Aissaoui Hanaa, Maudelonde Thierry, Olschwang Sylviane

Abstract excerpt

Identification of genetic alterations is important for family risk assessment in colorectal cancers. Next-generation sequencing (NGS) technologies provide useful tools for single-nucleotide and copy number variation (CNV) identification in many genes and samples simultaneously. Herein, we present the validation of current Multiplicom MASTR designs of mismatch repair combined to familial adenomatous polyposis...

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

Share to DNA Copy Number Variations

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Source

Identifiers

PMID: 28502729
DOI: 10.1016/j.jmoldx.2017.04.005

Genes

MUTYH
PMS2
MSH6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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