The association of FSCN1 (rs852479, rs1640233) and HOTAIR (rs920778) polymorphisms with the risk of breast cancer in Egyptian women

Sep 21, 2026

Background Breast cancer remains a leading cause of female cancer mortality worldwide, and evidence indicates that single nucleotide polymorphisms in FSCN1 and HOTAIR may influence breast cancer development despite prior inconsistent results. This case-control study assessed whether genotype frequencies in FSCN1 rs852479, rs1640233, and HOTAIR rs920778 relate to breast cancer susceptibility and prognosis, including effects of clinical stages and hormonal features. Methods and results used TaqMan real-time PCR in 200 patients and 200 cancer-free controls. A significant association was found for FSCN1 rs852479 A>C with CC genotype frequency and breast cancer risk. No significant links were detected for FSCN1 rs1640233 C>T or HOTAIR rs920778 C>T with susceptibility. CC genotype of FSCN1 rs1640233 correlated with tumor size progression and lymph node invasion. Conclusions indicate FSCN1 rs852479 may contribute to breast cancer susceptibility in Egyptian women.

LanguageEnglish

CategoryResearch & Report

FormatPDF

Pages10

Reading Time25 min

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Abstract

Methods and results

Conclusions

Keywords

Abbreviations

Introduction

Background and epidemiology

Genetic polymorphisms and SNPs

FSCN1 and HOTAIR relevance

Molecular Biology Reports (2024) 51:495 [https://doi.org/10.1007/s1](https://doi.org/10.1007/s1) 1033-024-09459-9 The association ofFSCN1 (rs852479, rs1640233) and HOTAIR (rs920778) polymorphisms with the risk of breast cancer in Egyptian women Eman Reda Galal1 · Dina A. Abdelhakam2 · Lamiaa Khalaf Ahmed1 · Yasmine Elhusseny3 · Sherif El Prince Sayed4 · Noha H. Eltaweel5 Received: 22 February 2024 / Accepted: 19 March 2024 / Published online: 8 April 2024 © The Author(s) 2024 Abstract Background Breast cancer (BC) is one of the most prevalent cancers that contribute to mortality among women worldwide. Despite contradictory findings, considerable evidence suggests that single nucleotide polymorphisms (SNPs) in the FSCN1 and HOTAIR genes may have a causative impact on the development of BC. This case–control study was conducted to evaluate the association of genotype frequency in FSCN1 rs852479, rs1640233, and HOTAIR rs920778 with susceptibility and prognosis of BC, as well as the impact of clinical stages and hormonal features. Methods and results FSCN1 (rs852479, rs1640233) and HOTAIR (rs920778) were genotyped using TaqMan real-time PCR assay in 200 BC patients and 200 cancer-free controls, all representing Egyptian women. Genotypic analyses in association with clinicopathological factors and disease risk were assessed. As a result, a significant association with BC risk was observed for CC genotype frequency ofFSCN1 rs852479 A >C (OR = 0.395, 95% CI 0.204–0.76, p-value = 0.005). However, no significant correlation was detected between the FSCN1 rs1640233 C >T and HOTAIR rs920778 C >T polymorphic variants and susceptibility to BC. Interestingly, CC genotype of FSCN1 rs1640233 was more likely to progress tumor size and lymph node invasion in BC cases (p-value = 0.04 and 0.02, respectively). Moreover, it was revealed that there was a nonsignificant correlation between the haplotype distributions of FSCN1 rs852479 and rs1640233 and the probability of BC. Conclusions Based on the sample size and genetic characteristics of the subjects involved in the present study, our findings indicated that FSCN1 rs852479 may contribute to BC susceptibility in a sample of the Egyptian population. Keywords Breast cancer · FSCN1 · Gene polymorphism · HOTAIR Abbreviations BC Breast cancer SNPs Single nucleotide polymorphisms * Eman Reda Galal [EmanGalal.52@azhar.edu.eg](EmanGalal.52@azhar.edu.eg) 1 Biochemistry and Molecular Biology Department, Faculty of Pharmacy (Girls), Al-Azhar University, Cairo, Egypt 2 Department of Clinical Pathology, Faculty of Medicine, Ain Shams University, Cairo, Egypt 3 Medical Biochemistry and Molecular Biology Department, School of Medicine, Newgiza University, Giza, Egypt 4 Department of General Surgery, Faculty of Medicine, Beni-Suef University, Beni Suef, Egypt 5 Medical Molecular Genetics Department, Human Genetics and Genome Project Institute, National Research Centre, Cairo, Egypt FSCN1 Fascin-1 HOTAIR HOX Transcript antisense RNA TNBC Triple-negative breast cancer Introduction Breast cancer (BC) is the most prevalent malignancy in women worldwide. According to its death rate, it is considered the second most frequent cause of cancer mortality among women [1] . Globally, there were 2.3 million women diagnosed with BC and 685,000 deaths from this disease in 2020 [2] . The incidence and mortality rates of BC vary according to the region [3] . An estimated 313,510 new instances of invasive BC in women and 611,720 cancerrelated deaths will occur in the United States in 2024 [4] . In Egypt, more than 22,000 new cases of cancer are diagnosed each year, making it the main cause of cancer-related mortality among Egyptian women [5] . The ratio of mortality/incidence rate of BC cases in Egypt was approximately double the ratio (41%) when compared with developed countries (23%) [6]. Many variables are associated with the risk of BC, including age, environmental, gynecological, an

FAQs

What is the study evaluating regarding FSCN1 and HOTAIR polymorphisms?

It evaluates whether genotype frequencies of FSCN1 rs852479, rs1640233, and HOTAIR rs920778 are associated with breast cancer susceptibility and prognosis in Egyptian women, including impacts of clinical stages and hormonal features.

How were the polymorphisms genotyped in the study?

FSCN1 and HOTAIR variants were genotyped using a TaqMan real-time PCR assay in 200 breast cancer patients and 200 cancer-free controls.

Which genetic variant showed a significant association with breast cancer risk?

The CC genotype frequency of FSCN1 rs852479 A>C showed a significant association with breast cancer risk (OR = 0.395, 95% CI 0.204–0.76, p-value = 0.005).

Sep 21, 2026

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