title: Genetic variants in FGFR2 and TNRC9 genes are associated with breast cancer risk in Pakistani women.
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.
authors: Department of Biosciences, COMSATS Institute of Information Technology (CIIT), Sahiwal, Punjab 57000, Pakistan.
authors: Ayesha
authors: A
authors: Mazhar
authors: Department of Biosciences, COMSATS Institute of Information Technology (CIIT), Sahiwal, Punjab 57000, Pakistan.
authors: Farrukh
authors: F
authors: Jamil
authors: School of Biological Sciences, University of The Punjab (New Campus), Lahore, Punjab 54590, Pakistan.
authors: Qamar
authors: Q
authors: Bashir
authors: Department of Zoology, University of Swabi, Swabi, Khyber Pakhtunkhwa 20201, Pakistan.
authors: Munawar Saleem
authors: MS
authors: Ahmad
authors: The Oncology Department, Institute of Nuclear Medicine and Oncology (INMOL), Lahore, Punjab 54770, Pakistan.
authors: Misbah
authors: M
authors: Masood
authors: Department of Pathology, Fatima Memorial College of Medicine and Dentistry, Lahore, Punjab 21243, Pakistan.
authors: Imrana
authors: I
authors: Tanvir
authors: School of Biological Sciences, University of The Punjab (New Campus), Lahore, Punjab 54590, Pakistan.
authors: Naeem
authors: N
authors: Rashid
authors: Department of Biosciences, COMSATS Institute of Information Technology (CIIT), Sahiwal, Punjab 57000, Pakistan.
authors: Abdul
authors: A
authors: Waheed
authors: School of Health Sciences, University of Management and Technology, Lahore, Punjab 53720, Pakistan.
authors: Muhammad Naveed
authors: MN
authors: Afzal
authors: Department of Biosciences, COMSATS Institute of Information Technology (CIIT), Sahiwal, Punjab 57000, Pakistan.
authors: Muhammad Akram
authors: MA
authors: Tariq
mesh_terms: D000328:Adult; D000368:Aged; D051017:Apoptosis Regulatory Proteins; D001940:Breast / Q000378:metabolism / Q000473:pathology*; D001943:Breast Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006609:High Mobility Group Proteins; D006801:Humans; D048728:MAP Kinase Kinase Kinase 1 / Q000235:genetics; D008875:Middle Aged; D010154:Pakistan / Q000453:epidemiology; D020641:Polymorphism, Single Nucleotide; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D011980:Receptors, Progesterone / Q000235:genetics*; D015534:Trans-Activators; D055815:Young Adult
chemical_list: D051017:Apoptosis Regulatory Proteins; D006609:High Mobility Group Proteins; D011980:Receptors, Progesterone; C521752:TOX3 protein, human; D015534:Trans-Activators; C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2; D048728:MAP Kinase Kinase Kinase 1; C482576:MAP3K1 protein, human