Evidence map›Paper›PMID 40646476›Full record

ArticleBMC cancer2025

An in-frame deletion mutation in MLH1 drives Lynch syndrome-associated colorectal cancer.

Xiaojuan Lin, Ce Bian, Dongni Liang, Lin Li, Qingqing Tang, Qingli Li

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PubMed Full text at PMC Publisher
In one paragraph

Article in BMC cancer, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

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3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

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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

6 authors.

Xiaojuan LinDepartment of Obstetrics and Gynecology, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, P.R. China.
Ce BianDepartment of Obstetrics and Gynecology, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, P.R. China.
Dongni LiangDepartment of Pathology, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, P.R. China.
Lin LiDepartment of Obstetrics and Gynecology, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, P.R. China.
Qingqing TangWest China Clinical Medical College, Sichuan University, Chengdu, Sichuan, 610041, P.R. China.
Qingli LiDepartment of Obstetrics and Gynecology, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, P.R. China. liqingli73@163.com.

Funding

Natural Science Foundation of Sichuan Province,China 25NSFSC1229Science and Technology Department of Chengdu, Key R&D Support Program 2022-YF05-01551-SNScience and Technology Department of Sichuan Province, Key R&D Program 2022YFS0080
6 · The paper itself

Abstract

Lynch syndrome (LS) is the most common inherited disorder predisposing individuals to colorectal cancer (CRC). It results from germline defects in DNA mismatch repair (MMR) genes, which are critical for maintaining genomic integrity. Here, we demonstrate that the expression of the MMR genes MLH1 and PMS2 are significantly reduced in colon tumor tissues from a proband with CRC, potentially resulting from inherited mutations in the MLH1 gene in LS cases. We identified a previously unreported in-frame deletion mutation in the MLH1 gene, classified as a variant of uncertain significance (VUS) due to its undefined role in oncogenesis. The majority of functionally inactive mutants were located in the residues Phe614 to Lys617, which form crucial hydrogen bonds. Taken together, our data reveals a correlation between this mutation and increased susceptibility to LS-associated tumors. The study offers a valuable insight for evaluating cancer susceptibility in carriers of MLH1 mutants, potentially elucidating the functional roles of MLH1 in oncogenesis.

Indexed as

Colorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisMutL Protein Homolog 1Sequence DeletionDNA Mismatch RepairFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedMismatch Repair Endonuclease PMS2PedigreeMismatch Repair Endonuclease PMS2MLH1 protein, humanMutL Protein Homolog 1PMS2 protein, humanColorectal cancerIn-frame deletion mutationLynch syndromeMLH1

Identifiers

PMID40646476
PMCPMC12247269

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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.