Genetic variants in FGFR2 and TNRC9 genes are associated with breast cancer risk in Pakistani women

Mazhar,Ayesha; Jamil,Farrukh; Bashir,Qamar; Ahmad,Munawar  Saleem; Masood,Misbah; Tanvir,Imrana; Rashid,Naeem; Waheed,Abdul; Afzal,Muhammad  Naveed; Tariq,Muhammad  Akram

doi:10.3892/mmr.2016.5633

Genetic variants in FGFR2 and TNRC9 genes are associated with breast cancer risk in Pakistani women

Authors:
- Ayesha Mazhar
- Farrukh Jamil
- Qamar Bashir
- Munawar Saleem Ahmad
- Misbah Masood
- Imrana Tanvir
- Naeem Rashid
- Abdul Waheed
- Muhammad Naveed Afzal
- Muhammad Akram Tariq
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Affiliations: Department of Biosciences, COMSATS Institute of Information Technology (CIIT), Sahiwal, Punjab 57000, Pakistan, School of Biological Sciences, University of The Punjab (New Campus), Lahore, Punjab 54590, Pakistan, Department of Zoology, University of Swabi, Swabi, Khyber Pakhtunkhwa 20201, Pakistan, The Oncology Department, Institute of Nuclear Medicine and Oncology (INMOL), Lahore, Punjab 54770, Pakistan, Department of Pathology, Fatima Memorial College of Medicine and Dentistry, Lahore, Punjab 21243, Pakistan, School of Health Sciences, University of Management and Technology, Lahore, Punjab 53720, Pakistan
Published online on: August 18, 2016 https://doi.org/10.3892/mmr.2016.5633
Pages: 3443-3451

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Abstract

Single nucleotide polymorphisms (SNPs) lead to genetic differences in breast cancer (BC) susceptibility among women from different ethnicities. The present study aimed at investigating the involvement of SNPs of three genes, including fibroblast growth factor receptor 2 (FGFR2), trinucleotide-repeat-containing 9 (TNRC9) and mitogen-activated protein kinase kinase kinase 1 (MAP3K1), as risk factors for the development of BC. A case‑control study (90‑100 cases; 90‑100 controls) was performed to evaluate five genetic variants of three genes, including FGFR2 (SNPs: rs1219648, rs2981582), TNRC9 (SNPs: rs8051542, rs3803662) and MAP3K1 (SNP: rs889312) as BC risk factors in Pakistani women. Significant associations were observed between BC risk and two SNPs of FGFR2 [rs2981582 (P=0.005), rs1219648 (P=9.08e‑006)] and one SNP of TNRC9 [rs3803662) (P=0.012)] in Pakistani women. On examining the different interactions of these SNPs with various clinicopathological characteristics, all three associated genetic variants, rs2981582 rs1219648 and rs3803662, exhibited a greater predisposition to sporadic, in comparison to familial, BC. Furthermore, there was an increased effect of BC risk between haplotype combinations of the two SNPs of FGFR2 (rs2981582 and rs1219648) in Pakistani women. The results of the present study suggest that variants of FGFR2 and TNRC9 may contribute to the genetic susceptibility of BC in Pakistani women.

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