Miniatura

Fitxers

842460.pdf (358.6 KB)

Tipus de document

Article

Versió

Versió acceptada

Data de publicació

2023-10-24

Llicència de publicació

cc-by-nc (c) Dueñas, Nuria et al., 2023
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/209225

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

Títol de la revista

Autors

Director/Tutor

ISSN de la revista

Títol del volum

Recurs relacionat

https://doi.org/10.1136/jmg-2023-109344

Resum

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 PMS2) and 5656 CRC-free population-based controls from two independent cohorts were included. A 91-SNP PRS was applied. A Cox proportional hazard regression model with 'family' as a random effect and a logistic regression analysis, followed by a meta-analysis combining both cohorts were conducted. Results: Overall, we did not observe a statistically significant association between PRS and CRC risk in the entire cohort. Nevertheless, PRS was significantly associated with a slightly increased risk of CRC or advanced adenoma (AA), in those with CRC diagnosed <50 years and in individuals with multiple CRCs or AAs diagnosed <60 years. Conclusion: The PRS may slightly influence CRC risk in individuals with LS in particular in more extreme phenotypes such as early-onset disease. However, the study design and recruitment strategy strongly influence the results of PRS studies. A separate analysis by genes and its combination with other genetic and non-genetic risk factors will help refine its role as a risk modifier in LS.

Matèries

Càncer colorectal, Malalties hereditàries, Malalties neonatals

Matèries (anglès)

Colorectal cancer, Genetic diseases, Neonatal diseases

Citació

Col·leccions

Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Citació

DUEÑAS, Nuria, KLINKHAMMER, Hannah, BONIFACI CANO, Núria, SPIER, Isabel, MAYR, Andreas, HASSANIN, Emadeldin, DÍEZ VILLANUEVA, Anna, MORENO AGUADO, Víctor, PINEDA, Marta, MAJ, Carlo, CAPELLÀ, Gabriel, ARETZ, Stefan, BRUNET, Joan. Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome. _Journal of Medical Genetics_. 2023. Vol. 60, núm. 11, pàgs. 1044-1051. [consulta: 21 de gener de 2026]. ISSN: 0022-2593. [Disponible a: https://hdl.handle.net/2445/209225]

Exportar metadades

JSON - METS

Compartir registre