Evidence map›Paper›PMID 38890669›Full record

ArticleJournal of translational medicine2024

Functional genetic variants of GEN1 predict overall survival of Chinese epithelial ovarian cancer patients.

Haoran Li, Jiao Wu, Qing Xu, Yangyang Pang, Yanzi Gu, Mengyun Wang, Xi Cheng

Abstract read
In one paragraph

Article in Journal of translational medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. World journal of gastrointestinal oncology · 2025
    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

7 authors.

Haoran Li *Department of Gynecological Oncology, Fudan University Shanghai Cancer Center, Shanghai, China.
Jiao Wu *Department of Gynecological Oncology, Fudan University Shanghai Cancer Center, Shanghai, China.
Qing XuDepartment of Gynecological Oncology, Fudan University Shanghai Cancer Center, Shanghai, China.
Yangyang PangDepartment of Urology, Shanghai Xuhui Central Hospital, Zhongshan-Xuhui Hospital, Fudan University, Shanghai, China.
Yanzi GuDepartment of Biobank, Fudan University Shanghai Cancer Center, Shanghai, China.
Mengyun WangDepartment of Oncology, Shanghai Medical College, Fudan University, 270 Dong'an Road, Shanghai, 200032, China. wangmengyun@fudan.edu.cn.
Xi ChengDepartment of Gynecological Oncology, Fudan University Shanghai Cancer Center, Shanghai, China. cheng_xi1@hotmail.com.

Funding

Innovative Research Group Project of the National Natural Science Foundation of China Grant No.82102718Innovative Research Group Project of the National Natural Science Foundation of China Grant No.82274278
6 · The paper itself

Abstract

backgroundInherited variations in DNA double-strand break (DSB) repair pathway are known to influence ovarian cancer occurrence, progression and treatment response. Despite its significance, survival-associated genetic variants within the DSB pathway remain underexplored.

methodsIn the present study, we performed a two-phase analysis of 19,290 single-nucleotide polymorphisms (SNPs) in 199 genes in the DSB repair pathway from a genome-wide association study (GWAS) dataset and explored their associations with overall survival (OS) in 1039 Han Chinese epithelial ovarian carcinoma (EOC) patients. After utilizing multivariate Cox regression analysis with bayesian false-discovery probability for multiple test correction, significant genetic variations were identified and subsequently underwent functional prediction and validation.

resultsWe discovered a significant association between poor overall survival and the functional variant GEN1 rs56070363 C > T (CT + TT vs. TT, adjusted hazard ratio (HR) = 2.50, P < 0.001). And the impact of GEN1 rs56070363 C > T on survival was attributed to its reduced binding affinity to hsa-miR-1287-5p and the resultant upregulation of GEN1 mRNA expression. Overexpression of GEN1 aggregated EOC cell proliferation, invasion and migration presumably by influencing the expression of immune inhibitory factors, thereby elevating the proportion of polymorphonuclear myeloid-derived suppressor cells (PMN-MDSCs) and then constructing an immunosuppressive tumor microenvironment.

conclusionsIn conclusion, GEN1 rs56070363 variant could serve as a potential predictive biomarker and chemotherapeutic target for improving the survival of EOC patients.

Indexed as

Carcinoma, Ovarian EpithelialHolliday Junction ResolvasesOvarian NeoplasmsPolymorphism, Single NucleotideCell Line, TumorCell MovementCell ProliferationChinaEast Asian PeopleFemaleGene Expression Regulation, NeoplasticGenome-Wide Association StudyHumansKaplan-Meier EstimateMicroRNAsMiddle AgedGEN1 protein, humanHolliday Junction ResolvasesMicroRNAsDNA double strand break repairEpithelial ovarian cancerGEN1Genetic variantOverall survivalSingle nucleotide polymorphisms

Identifiers

PMID38890669
PMCPMC11184878

What Socratic holds

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LicenceCC BY
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Registered trials

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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 Socratic graph.