Association of TMPRSS6 polymorphisms with hematologic parameters, histopathological data and breast cancer risk in Turkish population

GÜVEN M., Mete M., Trabulus D. C., Ozoran E., Erhan D.

META GENE, vol.29, 2021 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 29
  • Publication Date: 2021
  • Doi Number: 10.1016/j.mgene.2021.100941
  • Journal Name: META GENE
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, EMBASE
  • Keywords: TMPRSS6, Matriptase-2, Iron refractory iron deficiency anemia, Polymorphisms, Breast cancer, VARIANTS
  • Istanbul University Affiliated: No


Mutations in TMPRSS6 gene encoding matriptase-2 result in Iron refractory iron deficiency anemia (IRIDA). Polymorphisms in the TMPRSS6 gene have been found to be more common in comparison with mutations in this gene. These polymorphisms were reported to lead to changes in hematologic parameters. Matriptase-2 (TMPRSS6) was found to be a risk factor leading to breast cancer. Two different TMPRSS6 polymorphisms (rs2111833, and rs228919) were analyzed in 281 people (181 patients with breast cancer and 100 healthy controls). The relationship between different genotypes, risk of developing breast cancer, hematologic values, and histopathological data was analyzed. TMPRSS6 gene polymorphisms were not found to be associated with breast cancer risk. Histological grade and TMPRSS6 rs2111833 gene polymorphism had a statistically significant relationship. Further studies with a larger cohort of patients are needed in order to identify potential haplotypes and polymorphisms responsible for the clinical and pathological parameters of breast cancer patients; which could aid in understanding the pathogenesis and clinic parameters of breast cancer.