# Association of FGF Receptor-2rs2981578 SNP with breast cancer in women at the University of Gondar Comprehensive Specialized Hospital, Ethiopia

**Authors:** Mihiret Bogale, Tiget Ayelgn Mengstie, Ephrem Tadesse, Tadesse Asmamaw Dejenie, Banchamlak Teferi, Melkamu Siferih, Mulualem Nibret Takle, Tseganesh Asefa, Gashaw Dessie, Winta Tesfaye, Endeshaw Asaye Kindie, Hiwot Tezera Endale, Kibur Hunie Tesfa, Birhanu Ayelign, Tewodros Shibabaw

PMC · DOI: 10.1371/journal.pone.0327034 · PLOS One · 2025-08-01

## TL;DR

This study finds that a specific genetic variant is linked to higher breast cancer risk and worse outcomes in Ethiopian women.

## Contribution

Identifies a genetic SNP (rs2981578) associated with breast cancer susceptibility and progression in an Ethiopian population.

## Key findings

- The AA genotype and A allele of FGF Receptor-2 rs2981578 are more common in breast cancer patients.
- The A allele increases breast cancer risk and is linked to more advanced cancer stages.
- The AA genotype is associated with a 3.3-fold higher risk of breast cancer compared to the GG genotype.

## Abstract

Fibroblast Growth Factor Receptor-2 single nucleotide polymorphisms are implicated in breast cancer development. However, there are inconsistencies and contradictions in the reports. The current study aimed to determine the association between Fibroblast Growth Factor Receptor-2 rs2981578 single nucleotide polymorphism and breast cancer among female breast cancer patients.

A case-control study was conducted between August 2023 and April 2024 at University of Gondar Comprehensive Specialized Hospital, Gondar, and Northwest Ethiopia. Semi-structured was adapted to collect socio-demographic character and anthropometric measurement and 5 ml of blood were drawn from each randomly selected participant for molecular analysis. The data was entered into Epi-Data-7.2 and exported to SPSS-25. Binary logistic regression model was used to look into the association between various factors. Statistical significance was regarded as a p-value of < 0.05.

The Fibroblast Growth Factor Receptor-2 Single Nucleotide Polymorphisms rs2981578 AA genotype and A allele were more frequent in breast cancer patients than in controls (37% vs. 17% and 58% vs 42%; the chi-square p = 0.025 and p = 0.009, respectively). Individuals with the AA genotype and A allele were more prone to breast cancer (OR = 3.3; 95% CI: 1.293–8.538, and OR =1.88; 95% CI: 1.173, 3.029, respectively) than those with the wild type GG genotype. The risk allele correlated with the late TNM stage (COR = 3.41, 95% CI: 1.07–10.88).

The AA genotype and the A allele of the Fibroblast Growth Factor Receptor-2 Single Nucleotide Polymorphisms rs2981578 gene are more prevalent among women with breast cancer. They are correlated with increased susceptibility to breast cancer and a worsening of its stage.

## Linked entities

- **Diseases:** breast cancer (MONDO:0004989)

## Full-text entities

- **Genes:** ESR1 (estrogen receptor 1) [NCBI Gene 2099] {aka ER, ESR, ESRA, ESTRR, Era, NR3A1}, BRCA1 (BRCA1 DNA repair associated) [NCBI Gene 672] {aka BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4}, RUNX2 (RUNX family transcription factor 2) [NCBI Gene 860] {aka AML3, CBF-alpha-1, CBFA1, CCD, CCD1, CLCD}, CEBPB (CCAAT enhancer binding protein beta) [NCBI Gene 1051] {aka C/EBP-beta, IL6DBP, NF-IL6, TCF5}, TXK (TXK tyrosine kinase) [NCBI Gene 7294] {aka BTKL, PSCTK5, PTK4, RLK, TKL}, FGFR2 (fibroblast growth factor receptor 2) [NCBI Gene 2263] {aka BBDS, BEK, BFR-1, CD332, CEK3, CFD1}, TENM1 (teneurin transmembrane protein 1) [NCBI Gene 10178] {aka ODZ1, ODZ3, TEN-M1, TEN1, TNM, TNM1}, FOXA1 (forkhead box A1) [NCBI Gene 3169] {aka HNF3A, TCF3A}, POU2F1 (POU class 2 homeobox 1) [NCBI Gene 5451] {aka OCT1, OTF1, Oct1Z, oct-1B}, EREG (epiregulin) [NCBI Gene 2069] {aka EPR, ER, Ep}
- **Diseases:** obese (MESH:D009765), Oncology (MESH:D000072716), hypertension (MESH:D006973), female (MESH:D005831), ductal carcinoma (MESH:D044584), lymph node (MESH:D000072717), thyroid disease (MESH:D013959), diabetes mellitus (MESH:D003920), renal disease (MESH:D007674), Breast Cancer (MESH:D001943), tuberculosis (MESH:D014376), deaths (MESH:D003643), Metastasis (MESH:D009362), liver disease (MESH:D008107), overweight (MESH:D050177), nodal (MESH:D013611), Cancer (MESH:D009369), inflammatory disease (MESH:D007249)
- **Chemicals:** ethanol (MESH:D000431), MgCl2 (MESH:D015636), Adenine (MESH:D000225), docetaxel (MESH:D000077143), isopropanol (MESH:D019840), NaCl (MESH:D012965), EDTA (MESH:D004492), salt (MESH:D012492), Tween-20 (MESH:D011136), epirubicin (MESH:D015251), cyclophosphamide (MESH:D003520), Dinucleotide Acid (-), SDS (MESH:D012967), alcohol (MESH:D000438), Agarose (MESH:D012685), KCl (MESH:D011189), Ethidium bromide (MESH:D004996), water (MESH:D014867), (NH4)2SO4 (MESH:D000645), Triton-X (MESH:D017830)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** rs2420946, G > A, rs2981582, rs2981579
- **Cell lines:** SUM-52PE — Homo sapiens (Human), Breast carcinoma, Cancer cell line (CVCL_3425)

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12316240/full.md

## References

41 references — full list in the complete paper: https://tomesphere.com/paper/PMC12316240/full.md

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Source: https://tomesphere.com/paper/PMC12316240