Evidence map›Paper›PMID 34359758›Full record

ArticleCancers2021

Non-Lynch Familial and Early-Onset Colorectal Cancer Explained by Accumulation of Low-Risk Genetic Variants.

Pilar Mur, Nuria Bonifaci, Anna Díez-Villanueva, Elisabet Munté, Maria Henar Alonso, Mireia Obón-Santacana, Gemma Aiza, Matilde Navarro, Virginia Piñol, Joan Brunet and 4 more

Open access · goldAbstract read
In one paragraph

Article in Cancers, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
2.7field-weighted citation impact, top 9% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 12 citations in OpenAlex.

  1. Polygenic risk scores in cancer.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 3 institutions in 2 countries.

Pilar MurHereditary Cancer Program, Catalan Institute of Oncology, 08908 Barcelona, Spain.ORCID 0000-0003-0780-926X
Nuria BonifaciHereditary Cancer Program, Catalan Institute of Oncology, 08908 Barcelona, Spain.
Anna Díez-VillanuevaOncobell Program, Bellvitge Biomedical Research Institute (IDIBELL), 08908 Barcelona, Spain.
Elisabet MuntéHereditary Cancer Program, Catalan Institute of Oncology, 08908 Barcelona, Spain.
Maria Henar AlonsoOncobell Program, Bellvitge Biomedical Research Institute (IDIBELL), 08908 Barcelona, Spain.ORCID 0000-0003-0285-5451
Mireia Obón-SantacanaOncobell Program, Bellvitge Biomedical Research Institute (IDIBELL), 08908 Barcelona, Spain.
Gemma AizaHereditary Cancer Program, Catalan Institute of Oncology, 08908 Barcelona, Spain.
Matilde NavarroHereditary Cancer Program, Catalan Institute of Oncology, 08908 Barcelona, Spain.
Virginia PiñolGastroenterology Unit, Hospital Universitario de Girona Dr Josep Trueta, 17007 Girona, Spain.ORCID 0000-0003-3669-6989
Joan BrunetHereditary Cancer Program, Catalan Institute of Oncology, 08908 Barcelona, Spain.ORCID 0000-0003-1945-3512
Ian TomlinsonEdinburgh Cancer Research Centre, IGMM, University of Edinburgh, Edinburgh EH4 2XR, UK.
Gabriel CapelláHereditary Cancer Program, Catalan Institute of Oncology, 08908 Barcelona, Spain.
Victor MorenoOncobell Program, Bellvitge Biomedical Research Institute (IDIBELL), 08908 Barcelona, Spain.ORCID 0000-0002-2818-5487
Laura ValleHereditary Cancer Program, Catalan Institute of Oncology, 08908 Barcelona, Spain.ORCID 0000-0003-0371-0844
Institut d'Investigació Biomédica de Bellvitge · ESUniversitat de Girona · ESEdinburgh Cancer Research · GB

Funding

Cancer Research UK 27327
6 · The paper itself

Abstract

A large proportion of familial and/or early-onset cancer patients do not carry pathogenic variants in known cancer predisposing genes. We aimed to assess the contribution of previously validated low-risk colorectal cancer (CRC) alleles to familial/early-onset CRC (fCRC) and to serrated polyposis. We estimated the association of CRC with a 92-variant-based weighted polygenic risk score (wPRS) using 417 fCRC patients, 80 serrated polyposis patients, 1077 hospital-based incident CRC patients, and 1642 controls. The mean wPRS was significantly higher in fCRC than in controls or sporadic CRC patients. fCRC patients in the highest (20th) wPRS quantile were at four-fold greater CRC risk than those in the middle quantile (10th). Compared to low-wPRS fCRC, a higher number of high-wPRS fCRC patients had developed multiple primary CRCs, had CRC family history, and were diagnosed at age ≥50. No association with wPRS was observed for serrated polyposis. In conclusion, a relevant proportion of mismatch repair (MMR)-proficient fCRC cases might be explained by the accumulation of low-risk CRC alleles. Validation in independent cohorts and development of predictive models that include polygenic risk score (PRS) data and other CRC predisposing factors will determine the implementation of PRS into genetic testing and counselling in familial and early-onset CRC.

Indexed as

cancer predispositionhereditary colorectal cancerpolygenic risk scoreserrated polyposis

Identifiers

PMID34359758
PMCPMC8345397
OpenAlexW3187266912

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.