Evidence map›Paper›PMID 40287430›Full record

ArticleScientific reports2025

Identification of genomic variants associated with colorectal cancer heredity in indigenous populations of the Amazon.

Ian Barroso Dos Santos, Ana Caroline Alves da Costa, Laura Patrícia Albarello Gellen, Lucas Lincoln Santos Sales, Natasha Monte, Francisco Cezar Aquino de Moraes, Marcella Oliveira Monte Santo, Juliana Carla Gomes Rodrigues, Paulo Pimentel de Assumpção, João Farias Guerreiro and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Article
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

18 authors.

Ian Barroso Dos SantosOncology Research Center, Federal University of Pará, Belém, Pará, 66073-005, Brazil.
Ana Caroline Alves da CostaOncology Research Center, Federal University of Pará, Belém, Pará, 66073-005, Brazil.
Laura Patrícia Albarello GellenOncology Research Center, Federal University of Pará, Belém, Pará, 66073-005, Brazil.
Lucas Lincoln Santos SalesOncology Research Center, Federal University of Pará, Belém, Pará, 66073-005, Brazil.
Natasha MonteOncology Research Center, Federal University of Pará, Belém, Pará, 66073-005, Brazil.
Francisco Cezar Aquino de MoraesOncology Research Center, Federal University of Pará, Belém, Pará, 66073-005, Brazil.
Marcella Oliveira Monte SantoOncology Research Center, Federal University of Pará, Belém, Pará, 66073-005, Brazil.
Juliana Carla Gomes RodriguesOncology Research Center, Federal University of Pará, Belém, Pará, 66073-005, Brazil.
Paulo Pimentel de AssumpçãoOncology Research Center, Federal University of Pará, Belém, Pará, 66073-005, Brazil.
João Farias GuerreiroOncology Research Center, Federal University of Pará, Belém, Pará, 66073-005, Brazil.
Sidney Emanuel Batista Dos SantosOncology Research Center, Federal University of Pará, Belém, Pará, 66073-005, Brazil.
Lui Wallacy Morikawa Souza VinagreLaboratory of Human and Medical Genetics, Institute of Biological Science, Federal University of Pará, Belém, Pará, 66077-830, Brazil.
Ândrea Ribeiro-Dos-SantosLaboratory of Human and Medical Genetics, Institute of Biological Science, Federal University of Pará, Belém, Pará, 66077-830, Brazil.
André Maurício Ribeiro-Dos-SantosLaboratory of Human and Medical Genetics, Institute of Biological Science, Federal University of Pará, Belém, Pará, 66077-830, Brazil.
Marianne Rodrigues FernandesOncology Research Center, Federal University of Pará, Belém, Pará, 66073-005, Brazil.
Tereza Cristina de Brito AzevedoHospital Ophir Loyola, Belém, PA, 66063-240, Brazil.
Rommel Mario Rodríguez BurbanoHospital Ophir Loyola, Belém, PA, 66063-240, Brazil.
Ney Pereira Carneiro Dos SantosOncology Research Center, Federal University of Pará, Belém, Pará, 66073-005, Brazil. npcsantos.ufpa@gmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Colorectal cancer (CRC) is a major global health concern, with genetic factors influencing its development. This study investigated the genomic profile of Amazonian indigenous populations (INDG) by analyzing five genes-APC, MLH1, MSH2, MSH6, and PMS2-associated with CRC. A total of 64 healthy individuals from 12 ethnic groups were analyzed using exome sequencing and bioinformatic tools. We identified 55 genetic variants, including three novel variants exclusive to the INDG, located in the MLH1 and MSH6 genes, which may represent genetic risks for CRC in this population. Additionally, three high-impact variants, already described in the literature, were identified in the APC and MSH2 genes. The study highlights the genetic isolation of Amazonian indigenous groups, with notable differences compared to continental populations. These findings emphasize the need for further genomic research to enhance the understanding of genetic risk factors and improve early detection and targeted therapies in vulnerable populations.

Indexed as

Colorectal NeoplasmsGenetic Predisposition to DiseaseGenetic VariationAdenomatous Polyposis Coli ProteinAdultBrazilDNA-Binding ProteinsExome SequencingFemaleHumansMaleMiddle AgedMismatch Repair Endonuclease PMS2MutL Protein Homolog 1MutS Homolog 2 ProteinAdenomatous Polyposis Coli ProteinDNA-Binding ProteinsG-T mismatch-binding proteinMismatch Repair Endonuclease PMS2MLH1 protein, humanMSH2 protein, humanMutL Protein Homolog 1MutS Homolog 2 ProteinPMS2 protein, human

Identifiers

PMID40287430
PMCPMC12033317

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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.