Evidence map›Paper›PMID 41294844›Full record

ArticleCells2025

Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region.

Dinesh Velayutham, Ramesh Elango, Sameera Rashid, Reem Al-Sarraf, Mohammed Akhtar, Khalid Ouararhni, Puthen Veettil Jithesh, Nehad M Alajez

Abstract read
In one paragraph

Article in Cells, 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. Review
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

8 authors.

Dinesh VelayuthamCollege of Health & Life Sciences, Hamad Bin Khalifa University, Qatar Foundation, Doha P.O. Box 34110, Qatar.ORCID 0000-0002-9425-7266
Ramesh ElangoTranslational Oncology Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Qatar Foundation, Doha P.O. Box 34110, Qatar.ORCID 0000-0003-1762-1834
Sameera RashidDepartment of Laboratory Medicine and Pathology, Hamad Medical Corporation, Doha P.O. Box 34110, Qatar.
Reem Al-SarrafDepartment of Laboratory Medicine and Pathology, Hamad Medical Corporation, Doha P.O. Box 34110, Qatar.
Mohammed AkhtarDepartment of Laboratory Medicine and Pathology, Hamad Medical Corporation, Doha P.O. Box 34110, Qatar.
Khalid OuararhniGenomics Core Facility, Hamad Bin Khalifa University, Qatar Foundation, Doha P.O. Box 34110, Qatar.ORCID 0000-0002-1245-3758
Puthen Veettil JitheshCollege of Health & Life Sciences, Hamad Bin Khalifa University, Qatar Foundation, Doha P.O. Box 34110, Qatar.ORCID 0000-0001-7747-0930
Nehad M AlajezCollege of Health & Life Sciences, Hamad Bin Khalifa University, Qatar Foundation, Doha P.O. Box 34110, Qatar.ORCID 0000-0002-1546-1091

Funding

Qatar Biomedical Research institute IGP5-2022-006
6 · The paper itself

Abstract

Breast cancer remains a major global health challenge. Yet, genomic data from Middle Eastern and North African (MENA) populations are limited, restricting insights into disease drivers and therapeutic opportunities in this demographic. To address this gap, we performed whole-exome sequencing (WES) on 52 breast cancer samples, including 51 from the MENA region, to characterize somatic mutations and potential therapeutic targets. Across the cohort, 37,369 somatic variants matched entries in the COSMIC database, and driver prediction tools (BoostDM and OncodriveMUT) identified 2451 predicted driver mutations, including 648 known driver variants in genes such as TP53, PIK3CA, GATA3, PTEN, SF3B1, and KMT2C. In addition, 1803 novel predicted drivers were detected, many affecting DNA repair pathways, including homologous recombination (BRCA2, RAD51C), mismatch repair (MLH1, MSH2), and nucleotide excision repair (ERCC2, ERCC3), as well as regulators such as TP53 and ATM. Mutational signature analysis revealed a predominance of C>T substitutions and subtype-specific patterns, with SBS22 and SBS43 enriched in Luminal A tumors. Therapeutic annotation using OncoKB identified 223 actionable or likely oncogenic variants, highlighting potential targets for precision oncology. This study provides a comprehensive characterization of the breast cancer mutational landscape in MENA patients and offers a valuable resource for advancing genomic and therapeutic research in this demographic.

Indexed as

Breast NeoplasmsMutationAfrica, NorthernExome SequencingFemaleHumansMiddle AgedMiddle EastArab, driver mutationsbreast cancerMENA regionsomatic mutationssomatic signaturetherapeutic implications

Identifiers

PMID41294844
PMCPMC12651733

What OpenQuestion holds

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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 OpenQuestion graph.