Evidence map›Paper›PMID 40597019›Full record

ArticleBMC cancer2025

Association of PRKCQ variants with breast cancer susceptibility and clinicopathological features.

Amna Hafeez, Maria Shabbir, Yasmin Badshah, Andleeb Farooq, Janeen H Trembley, Tayyaba Afsar, Dara Aldisi, Suhail Razak

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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 2 papers.

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2citing papers in PubMed
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3 · Its place in the literature

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2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Amna HafeezDepartment of Biomedicine, Atta-Ur-Rahman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), Sector H-12, Islamabad, 44000, Pakistan.
Maria ShabbirDepartment of Biomedicine, Atta-Ur-Rahman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), Sector H-12, Islamabad, 44000, Pakistan. mshabbir@asab.nust.edu.pk.
Yasmin BadshahDepartment of Biomedicine, Atta-Ur-Rahman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), Sector H-12, Islamabad, 44000, Pakistan.
Andleeb FarooqSchool of Biochemistry and Biotechnology, University of the Punjab, Lahore, Pakistan.
Janeen H TrembleyMinneapolis VA Health Care System Research Service, Minneapolis, MN, USA.
Tayyaba AfsarDepartment of Community Health Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.
Dara AldisiDepartment of Community Health Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.
Suhail RazakDepartment of Community Health Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia. smarazi@ksu.edu.sa.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBreast cancer (BC) continues to be the most common malignant neoplasm and leading cause of mortality in women globally and genetic predisposition is one of the important risk determinants of this disease. PRKCQ which encodes PKCθ contributes to several human cancers due to its crucial role in several cellular processes such as cell cycle progression, cell survival and immune response. The purpose of this study was to evaluate the relation between five pathogenic missense variants in the PRKCQ gene (rs1838691533, rs1248923790, rs1837738907, rs1837738573, and rs1403981107) and risks of breast cancer, tumor characteristics, and molecular types.

methodsBlood samples were collected from 361 breast cancer patients and 364 cancer-free women in hospitals in Islamabad and Rawalpindi, Pakistan. DNA extraction was performed using the phenol-chloroform method, and genotyping was conducted via Tetra ARMS PCR. Statistical analyses, including Chi-square and Fisher's exact tests, were applied using GraphPad Prism to assess associations between PRKCQ genotypes and clinical parameters such as TNM staging, molecular subtypes, and metastasis.

resultsOur results revealed significant associations between several genotypes and breast cancer risk. Among the analyzed variants, rs1248923790 TT was significantly associated with increased breast cancer risk (OR = 2.106, RR = 1.446, p < 0.0001), particularly in Luminal A BC (OR = 2.530, p < 0.0001), while the CT genotype was more frequent in late-stage and metastatic cases (OR = 3.751, RR = 2.323, p < 0.0001). rs1403981107 AA was associated with HER2 + BC (OR = 2.338, p = 0.0177) and metastatic disease (OR = 1.680, p = 0.0137). rs1837738907 GA was significantly associated with early-stage BC (OR = 2.552, p = 0.0002), suggesting its role in early diagnosis.

conclusionThese results emphasize the functional role of PRKCQ variants in breast cancer and indicate that employing these SNPs as diagnostic, prognostic, and therapeutic biomarkers can be useful for the development of targeted therapeutic strategies. Large sample studies are called for to reinforce these correlations and investigate PKCθ-targeted drugs and their application in breast cancer treatment.

Indexed as

Breast NeoplasmsGenetic Predisposition to DiseasePolymorphism, Single NucleotideProtein Kinase C-thetaAdultAgedCase-Control StudiesFemaleGenotypeHumansMiddle AgedNeoplasm StagingPRKCQ protein, humanProtein Kinase C-theta

Identifiers

PMID40597019
PMCPMC12210595

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