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Article

Screening for Lynch syndrome in young Saudi colorectal cancer patients using microsatellite instability testing and next generation sequencing.

Familial cancer - 1 Apr 2018

Alqahtani Masood, Edwards Caitlin, Buzzacott Natasha, Carpenter Karen, Alsaleh Khalid, Alsheikh Abdulmalik, Abozeed Waleed, Mashhour Miral, Almousa Afnan, Housawi Yousef, Al Hawwaj Shareefa, Iacopetta Barry

Abstract excerpt

Individuals with Lynch syndrome (LS) have germline variants in DNA mismatch repair (MMR) genes that confer a greatly increased risk of colorectal cancer (CRC), often at a young age. Identification of these individuals has been shown to increase their survival through improved surveillance. We previously identified 33 high risk cases for LS in the Saudi population by screening for microsatellite instability (MSI)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28643016
DOI: 10.1007/s10689-017-0015-9

Genes

MLH1
MSH2
MSH6
PMS2

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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