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s12916-021-02134-x.pdf (1.13 MB)

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2021-11-08

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cc-by (c) Obón Santacana, Mireia et al., 2021
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/181317

Polygenic risk score across distinct colorectal cancer screening outcomes: from premalignant polyps to colorectal cancer

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https://doi.org/10.1186/s12916-021-02134-x

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Background: different risk-based colorectal cancer (CRC) screening strategies, such as the use of polygenic risk scores (PRS), have been evaluated to improve effectiveness of these programs. However, few studies have previously assessed its usefulness in a fecal immunochemical test (FIT)-based screening study. Methods: a PRS of 133 single nucleotide polymorphisms was assessed for 3619 participants: population controls, screening controls, low-risk lesions (LRL), intermediate-risk (IRL), high-risk (HRL), CRC screening program cases, and clinically diagnosed CRC cases. The PRS was compared between the subset of cases (n = 648; IRL+HRL+CRC) and controls (n = 956; controls+LRL) recruited within a FIT-based screening program. Positive predictive values (PPV), negative predictive values (NPV), and the area under the receiver operating characteristic curve (aROC) were estimated using cross-validation. Results: the overall PRS range was 110-156. PRS values increased along the CRC tumorigenesis pathway (Mann-Kendall P value 0.007). Within the screening subset, the PRS ranged 110-151 and was associated with higher risk-lesions and CRC risk (ORD10vsD1 1.92, 95% CI 1.22-3.03). The cross-validated aROC of the PRS for cases and controls was 0.56 (95% CI 0.53-0.59). Discrimination was equal when restricted to positive FIT (aROC 0.56), but lower among negative FIT (aROC 0.55). The overall PPV among positive FIT was 0.48. PPV were dependent on the number of risk alleles for positive FIT (PPVp10-p90 0.48-0.57). Conclusions: PRS plays an important role along the CRC tumorigenesis pathway; however, in practice, its utility to stratify the general population or as a second test after a FIT positive result is still doubtful. Currently, PRS is not able to safely stratify the general population since the improvement on PPV values is scarce.

Matèries

Càncer colorectal, Immunoquímica, Cribratge

Matèries (anglès)

Colorectal cancer, Immunochemistry, Medical screening

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

Citació

OBÓN SANTACANA, Mireia, DÍEZ VILLANUEVA, Anna, ALONSO AGUADO, Maria henar, IBÁÑEZ SANZ, Gemma, GUINÓ, Elisabet, LÓPEZ, Ana, RODRÍGUEZ ALONSO, Lorena, MATA, Alfredo, GARCÍA-RODRÍGUEZ, Ana, GARCÍA PALOMO, Andrés, MOLINA DE LA TORRE, Antonio josé, GARCÍA MARTÍNEZ, Montserrat, BINEFA I RODRÍGUEZ, Gemma, MARTÍN SÁNCHEZ, Vicente, MORENO AGUADO, Víctor. Polygenic risk score across distinct colorectal cancer screening outcomes: from premalignant polyps to colorectal cancer. _BMC Medicine_. 2021. Vol. 19, núm. 1. [consulta: 25 de febrer de 2026]. [Disponible a: https://hdl.handle.net/2445/181317]

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