title: Genetic polymorphisms of ESR1, ESR2, CYP17A1, and CYP19A1 and the risk of breast cancer: a case control study from North India.
abstract: Estrogen is a key driver of breast cancer and genes involved in its signaling and biosynthesis are crucial in breast cancer progression. In this study, we investigated the role of estrogen signaling and synthesis related genes polymorphism in susceptibility to breast cancer risk in North India population in a case-control approach. We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2234693) and ESR2 (rs2987983); estrogen biosynthesis enzymes, CYP17A1 (rs743572); and aromatase, CYP19A1 (rs700519) with breast cancer risk. Cases (n = 360) were matched to controls (n = 360) by age, sex, ethnicity, and geographical location. Results provided evidence that all the genetic variants were significantly associated with breast cancer risk among North Indian women. Furthermore, on performing stratified analysis between breast cancer risk and different clinicopathological characteristics, we observed strong associations for menopausal status, estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) status, clinical stage, and histological grade. Our results suggest that these genes could be used as molecular markers to assess breast cancer susceptibility and predicting prognosis in North India population.
authors.affiliation: Department of Biotechnology, Jamia Millia Islamia, New Delhi, 110025, India.
authors.forename: Shilpi
authors.initials: S
authors.lastname: Chattopadhyay
authors.forename: Sarah
authors.initials: S
authors.lastname: Siddiqui
authors.forename: Md Salman
authors.initials: MS
authors.lastname: Akhtar
authors.forename: Mohammad Zeeshan
authors.initials: MZ
authors.lastname: Najm
authors.forename: S V S
authors.initials: SV
authors.lastname: Deo
authors.forename: N K
authors.initials: NK
authors.lastname: Shukla
authors.forename: Syed Akhtar
authors.initials: SA
authors.lastname: Husain
mesh_terms: D000328:Adult; D000368:Aged; D001141:Aromatase / Q000235:genetics*; D001943:Breast Neoplasms / Q000209:etiology / Q000235:genetics*; D016022:Case-Control Studies; D047628:Estrogen Receptor alpha / Q000235:genetics*; D047629:Estrogen Receptor beta / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
chemical_list: C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha; D047629:Estrogen Receptor beta; D001141:Aromatase; C561410:CYP19A1 protein, human; C501892:CYP17A1 protein, human; D013254:Steroid 17-alpha-Hydroxylase