Evidence map›Paper›PMID 39394554›Full record

ArticleBMC cancer2024

TP53 mutation status and consensus molecular subtypes of colorectal cancer in patients from Rwanda.

Augustin Nzitakera, Delphine Uwamariya, Hisami Kato, Jean Bosco Surwumwe, André Mbonigaba, Ella Larissa Ndoricyimpaye, Schifra Uwamungu, Felix Manirakiza, Marie Claire Ndayisaba, Gervais Ntakirutimana and 14 more

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Article in BMC cancer, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Review
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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

24 authors.

Augustin NzitakeraDepartment of Tumor Pathology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-ku, Hamamatsu, Shizuoka, 431-3192, Japan.
Delphine UwamariyaDepartment of Biomedical Laboratory Sciences, School of Health Sciences, College of Medicine and Health Sciences, University of Rwanda, P.O. Box 3286, Kigali, Rwanda.
Hisami KatoDepartment of Tumor Pathology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-ku, Hamamatsu, Shizuoka, 431-3192, Japan.
Jean Bosco SurwumweDepartment of Pathology, University Teaching Hospital of Kigali, P.O. Box 655, Kigali, Rwanda.
André MbonigabaDepartment of Pathology, University Teaching Hospital of Kigali, P.O. Box 655, Kigali, Rwanda.
Ella Larissa NdoricyimpayeDepartment of Biomedical Laboratory Sciences, School of Health Sciences, College of Medicine and Health Sciences, University of Rwanda, P.O. Box 3286, Kigali, Rwanda.
Schifra UwamunguDepartment of Biomedical Laboratory Sciences, School of Health Sciences, College of Medicine and Health Sciences, University of Rwanda, P.O. Box 3286, Kigali, Rwanda.
Felix ManirakizaDepartment of Tumor Pathology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-ku, Hamamatsu, Shizuoka, 431-3192, Japan.
Marie Claire NdayisabaDepartment of Pathology, University Teaching Hospital of Kigali, P.O. Box 655, Kigali, Rwanda.
Gervais NtakirutimanaDepartment of Pathology, University Teaching Hospital of Kigali, P.O. Box 655, Kigali, Rwanda.
Benoit SeminegaDepartment of Internal Medicine, University Teaching Hospital of Kigali, P.O. Box 655, Kigali, Rwanda.
Vincent DusabejamboDepartment of Internal Medicine, University Teaching Hospital of Kigali, P.O. Box 655, Kigali, Rwanda.
Eric RutagandaDepartment of Internal Medicine, University Teaching Hospital of Kigali, P.O. Box 655, Kigali, Rwanda.
Placide KamaliDepartment of Internal Medicine, University Teaching Hospital of Kigali, P.O. Box 655, Kigali, Rwanda.
François NgabonzizaDepartment of Internal Medicine, University Teaching Hospital of Kigali, P.O. Box 655, Kigali, Rwanda.
Rei IshikawaDepartment of Tumor Pathology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-ku, Hamamatsu, Shizuoka, 431-3192, Japan.
Hirofumi WatanabeDepartment of Tumor Pathology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-ku, Hamamatsu, Shizuoka, 431-3192, Japan.
Belson RugwizangogaDepartment of Pathology, University Teaching Hospital of Kigali, P.O. Box 655, Kigali, Rwanda.
Satoshi BabaDepartment of Diagnostic Pathology, Hamamatsu University School of Medicine, Medicine, 1- 20-1 Handayama, Chuo-ku, Hamamatsu, Shizuoka, 431-3192, Japan.
Hidetaka YamadaDepartment of Tumor Pathology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-ku, Hamamatsu, Shizuoka, 431-3192, Japan.
Katsuhiro YoshimuraDepartment of Tumor Pathology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-ku, Hamamatsu, Shizuoka, 431-3192, Japan.
Yasuhiro SakaiDepartment of Tumor Pathology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-ku, Hamamatsu, Shizuoka, 431-3192, Japan.
Haruhiko SugimuraSasaki Institute Sasaki Foundation, 2-2 Kanda Surugadai, Chiyoda-ku, Tokyo, 101-0062, Japan. hsugimur@po.kyoundo.jp.
Kazuya ShinmuraDepartment of Tumor Pathology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-ku, Hamamatsu, Shizuoka, 431-3192, Japan. kzshinmu@hama-med.ac.jp.

Funding

Japan Society for the Promotion of Science 20K07445
6 · The paper itself

Abstract

backgroundMutations in the TP53 tumor suppressor gene are well-established drivers of colorectal cancer (CRC) development. However, data on the prevalence of TP53 variants and their association with consensus molecular subtype (CMS) classification in patients with CRC from Rwanda are currently lacking. This study addressed this knowledge gap by investigating TP53 mutation status concerning CMS classification in a CRC cohort from Rwanda.

methodsFormalin-fixed paraffin-embedded (FFPE) tissue blocks were obtained from 51 patients with CRC at the University Teaching Hospital of Kigali, Rwanda. Exons 4 to 11 and their flanking intron-exon boundaries in the TP53 gene were sequenced using Sanger sequencing to identify potential variants. The recently established immunohistochemistry-based classifier was employed to determine the CMS of each tumor.

resultsSequencing analysis of cancerous tissue DNA revealed TP53 pathogenic variants in 23 of 51 (45.1%) patients from Rwanda. These variants were predominantly missense types (18/23, 78.3%). The most frequent were c.455dup (p.P153Afs*28), c.524G > A (p.R175H), and c.733G > A (p.G245S), each identified in three tumors. Trinucleotide sequence context analysis of the 23 mutations (20 of which were single-base substitutions) revealed a predominance of the [C > N] pattern among single-base substitutions (SBSs) (18/20; 90.0%), with C[C > T]G being the most frequent mutation (5/18, 27.8%). Furthermore, pyrimidine bases (C and T) were preferentially found at the 5' flanking position of the mutated cytosine (13/18; 72.2%). Analysis of CMS subtypes revealed the following distribution: CMS1 (microsatellite instability-immune) (6/51, 11.8%), CMS2 (canonical) (28/51, 54.9%), CMS3 (metabolic) (9/51, 17.6%), and CMS4 (mesenchymal) (8/51, 15.7%). Interestingly, the majority of TP53 variants were in the CMS2 subgroup (14/23; 60.1%).

conclusionOur findings indicate a high frequency of TP53 variants in CRC patients from Rwanda. Importantly, these variants are enriched in the CMS2 subtype. This study, representing the second investigation into molecular alterations in patients with CRC from Rwanda and the first to explore TP53 mutations and CMS classification, provides valuable insights into the molecular landscape of CRC in this understudied population.

Indexed as

Colorectal NeoplasmsMutationTumor Suppressor Protein p53AdultAgedAged, 80 and overBiomarkers, TumorFemaleHumansMaleMiddle AgedRwandaBiomarkers, TumorTP53 protein, humanTumor Suppressor Protein p53AfricaColorectal cancerConsensus molecular subtypesMismatch repairMutation patternMutation spectrumRwandaTP53

Identifiers

PMID39394554
PMCPMC11468329

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