title: Role of Genomic Alterations in HER2 Positive Breast Carcinoma: Focus on Susceptibility and Trastuzumab-therapy.
abstract: Breast cancer is the most frequently diagnosed life-threatening malignancy among women, across the globe. HER2 positive is a distinct breast cancer subtype, on account of its unique biology and physiological behavior.
  
  
  
  Amplification of HER2 oncogene/polysomy 17 leads to HER2 overexpression that is a significant causal implication in HER2 positive breast cancer. HER2 gene variants, as well as other genes/gene variants, are involved in its overexpression, disease prognosis and in predicting the susceptibility towards HER2 positive breast cancer. Trastuzumab (Herceptin) is the most commonly used therapy for treating patients with HER2 positive status. Genomic alterations are incriminated in the development of trastuzumab-resistance, which influences the response towards trastuzumab-therapy.
  
  
  
  In the current review article, we have summarized the genomic alterations that are responsible for overexpression of HER2 and therefore, increased risk of breast cancer. In addition, the gene variants affecting response towards trastuzumab-therapy have also been discussed.
authors.affiliation: Centre for Human Genetics and Molecular Medicine, School of Health Sciences, Central University of Punjab, Bathinda, Punjab, India.
authors.forename: Heena
authors.initials: H
authors.lastname: Singla
authors.affiliation: Centre for Human Genetics and Molecular Medicine, School of Health Sciences, Central University of Punjab, Bathinda, Punjab, India.
authors.forename: Sourav
authors.initials: S
authors.lastname: Kalra
authors.affiliation: Centre for Human Genetics and Molecular Medicine, School of Health Sciences, Central University of Punjab, Bathinda, Punjab, India.
authors.forename: Preeti
authors.initials: P
authors.lastname: Kheterpal
authors.affiliation: Centre for Pharmaceutical Sciences and Natural Products, School of Basic and Applied Sciences, Central University of Punjab, Bathinda, Punjab, India.
authors.forename: Vinod
authors.initials: V
authors.lastname: Kumar
authors.affiliation: Centre for Human Genetics and Molecular Medicine, School of Health Sciences, Central University of Punjab, Bathinda, Punjab, India.
authors.forename: Anjana
authors.initials: A
authors.lastname: Munshi
mesh_terms: D000074322:Antineoplastic Agents, Immunological / Q000627:therapeutic use*; D001943:Breast Neoplasms / Q000188:drug therapy* / Q000235:genetics*; D005260:Female; D018734:Genes, erbB-2; D020022:Genetic Predisposition to Disease; D006801:Humans; D000068878:Trastuzumab / Q000627:therapeutic use*
chemical_list: D000074322:Antineoplastic Agents, Immunological; D000068878:Trastuzumab
keywords: Breast cancer; HER2 overexpression; drug resistance; gene variants; genomic alterations; trastuzumab