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Article

Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome.

Journal of medical genetics - 1 Nov 2023

Dueñas Nuria, Klinkhammer Hannah, Bonifaci Nuria, Spier Isabel, Mayr Andreas, Hassanin Emadeldin, Diez-Villanueva Anna, Moreno Victor, Pineda Marta, Maj Carlo, Capellà Gabriel, Aretz Stefan, Brunet Joan

Abstract excerpt

BACKGROUND: Polygenic risk scores (PRSs) have been used to stratify colorectal cancer (CRC) risk in the general population, whereas its role in Lynch syndrome (LS), the most common type of hereditary CRC, is still conflicting. We aimed to assess the ability of PRS to refine CRC risk prediction in European-descendant individuals with LS. METHODS: 1465 individuals with LS (557 MLH1, 517 MSH2/EPCAM, 299 MSH6 and 92...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 37321833
DOI: 10.1136/jmg-2023-109344

Genes

EPCAM
MLH1
MSH2
MSH6
PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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