Evidence map›Paper›PMID 39384723›Full record

ArticleBreast cancer research and treatment2025

Uncovering novel pathogenic variants and pathway mutations in triple-negative breast cancer among the endogamous mizo tribe.

Lalawmpuii Pachuau, H Lalremmawia, Lalengkimi Ralte, Johan Vanlalpeka, Jeremy Lalrinsanga Pautu, Saia Chenkual, Thomas Zomuana, Sailo Tlau Lalruatfela, John Zohmingthanga, Lalchhandama Chhakchhuak and 2 more

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Article in Breast cancer research and treatment, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
–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 synthesis or guideline pooled it.

  1. Pooled it
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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

12 authors.

Lalawmpuii Pachuau *Department of Biotechnology, Mizoram University, Tanhril, Aizawl, Mizoram, 796004, India.
H Lalremmawia *Department of Biotechnology, Mizoram University, Tanhril, Aizawl, Mizoram, 796004, India.
Lalengkimi RalteDepartment of Biotechnology, Mizoram University, Tanhril, Aizawl, Mizoram, 796004, India.
Johan VanlalpekaDepartment of Medicine, Zoram Medical College, Falkawn, Aizawl, Mizoram, 796 005, India.
Jeremy Lalrinsanga PautuDepartment of Medical Oncology, Mizoram State Cancer Institute, Zemabawk, Aizawl, Mizoram, 796017, India.
Saia ChenkualDepartment of Surgery, Department of Health & Family Welfare, Civil Hospital Aizawl, Government of Mizoram, Dawrpui, Aizawl, 796001, Mizoram, India.
Thomas ZomuanaDepartment of Surgery, Department of Health & Family Welfare, Civil Hospital Aizawl, Government of Mizoram, Dawrpui, Aizawl, 796001, Mizoram, India.
Sailo Tlau LalruatfelaDepartment of Surgery, Department of Health & Family Welfare, Civil Hospital Aizawl, Government of Mizoram, Dawrpui, Aizawl, 796001, Mizoram, India.
John ZohmingthangaZoram Medical College, Falkawn, Aizawl, Mizoram, 796 005, India.
Lalchhandama ChhakchhuakDepartment of Pathology, Department of Health & Family Welfare, Civil Hospital Aizawl, Government of Mizoram, Dawrpui, Aizawl, Mizoram, 796001, India.
Ashok K VarmaTata Memorial Centre, Advanced Centre for Treatment, Research and Education in Cancer, Kharghar, Navi Mumbai, Maharashtra, 410210, India.
Nachimuthu Senthil KumarDepartment of Biotechnology, Mizoram University, Tanhril, Aizawl, Mizoram, 796004, India. nskmzu@gmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThe incidence of triple-negative breast cancer (TNBC) in India is higher compared to Western populations. The objective of this study is to identify novel and less reported variants in TNBC in Mizoram, a state with a high cancer incidence in India.

methodsWe analysed whole exome sequencing data from triple-negative breast cancer (TNBC) patients in the Mizo population to identify key and novel variants. Moreover, we analysed reported breast cancer-related genes and pathway alterations.

resultsSomatic mutation analysis revealed that TP53 was the most frequently mutated gene and TP53, CACNA1E, IGSF3, RYR1, and FAM155A as significantly mutated driver genes. Based on the ACMG guidelines, we identified a rare pathogenic germline variant of BRCA1 (p.C1697R) in 13% and a likely pathogenic frameshift insertion in RBMX (p.P106Ffs) in 73% of the patients. We also found that the ATM, STK11, and CDKN2A genes were significantly mutated in germline TNBC samples compared to healthy samples. Moreover, we identified novel somatic variants in CHEK2 (p.K182M) and NF1 (p.C245X), and novel germline variants RB1 (p.D111G), CDH1 (p.A10Gfs), CDKN2A (p.V96G), CDKN2A (p.S12Afs*22), MAP3K1 (CAAdelins0), MSH6 (p.L1226_L1230del), and PMS2 (TTCdelins0). Pathway analysis revealed that most somatic mutations were highly associated with PI3K-Akt signalling pathway and MAPK signalling pathways in TNBC.

conclusionsThese findings identified novel variants and key genes contributing to disease development and progression. Further analysis of less studied genes, including RBMX, MRC1, ATM, CTNNB1, and CDKN2A, in TNBC may reveal new potential genes for targeted therapeutic strategies and contribute to clinical advancements in the treatment of TNBC.

Indexed as

Biomarkers, TumorMutationTriple Negative Breast NeoplasmsAdultAgedExome SequencingFemaleGenetic Predisposition to DiseaseGerm-Line MutationHumansIndiaMiddle AgedSignal TransductionBiomarkers, TumorMutational signaturePathogenic variantSomatic and germline variantsTriple-negative breast cancerWhole-exome sequencing

Identifiers

PMID39384723

What Socratic holds

Textmetadata
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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 Socratic graph.