PMID- 32385772 OWN - NLM STAT- MEDLINE DCOM- 20210216 LR - 20220311 IS - 1573-4978 (Electronic) IS - 0301-4851 (Linking) VI - 47 IP - 6 DP - 2020 Jun TI - An investigation of the relationship between TMPRSS6 gene expression, genetic variants and clinical findings in breast cancer. PG - 4225-4231 LID - 10.1007/s11033-020-05498-0 [doi] AB - Breast cancer is one of the most common types of cancer among women worldwide. The TMPRSS6 (Transmembrane Serine Protease 6) gene encodes matriptase-2, which plays an important role in iron hemostasis as the hepcidin regulator and may play a role in breast cancer susceptibility. In this study, we examined the expression levels of the TMPRSS6 gene in healthy tissues and tumor tissues of breast cancer patients; and the relationship between these levels and pathological findings. The relationship between TMPRSS6 polymorphisms (rs733655, rs5756506, rs2413450, rs855791, rs2235324, rs4820268) and patients' hematological parameters. The gene expression study encompassed 47 breast cancer patients and the gene polymorphism study consisted of 181 breast cancer patients and 100 healthy controls. Gene expression analysis was performed by qRT-PCR. The genotyping of TMPRSS6 polymorphisms was performed by RT-PCR. TMPRSS6 gene expression levels in tumor tissues were found to be 1.88 times higher than the expression levels in the control tissues. We examined the relationship between TMPRSS6 gene expression levels and pathological data, statistically significant relationship was found between patient's estrogen receptor (ER) and HER2 findings and TMPRSS6 gene expression (respectively p = 0.02, p = 0.002). When the relationship between TMPRSS6 gene polymorphisms related genotypes distributions and hematological findings was investigated, a significant relationship was identified between mean corpuscular hemoglobin concentration (MCHC) parameter and the polymorphism of only the rs733655. According to our findings, the increase in TMPRSS6 gene expression in cancerous tissues shows that matriptase-2 may be effective in the cancer process. Thus TMPRSS6 gene polymorphisms may affect the disease process by affecting the blood parameters of patients. FAU - Mete, Meltem AU - Mete M AD - Department of Medical Biology, Medical Faculty of Cerrahpasa, Istanbul University-Cerrahpasa, Istanbul, Turkey. FAU - Trabulus, Didem Can AU - Trabulus DC AD - Department of General Surgery, Istanbul Training and Research Hospital, Istanbul, Turkey. FAU - Talu, Canan Kelten AU - Talu CK AD - Department of Pathology, Istanbul Training and Research Hospital, Istanbul, Turkey. FAU - Ozoran, Emre AU - Ozoran E AD - Department of General Surgery, Koc University Hospital, Istanbul, Turkey. FAU - Mutlu, Tuba AU - Mutlu T AD - Department of Medical Biology, Medical Faculty of Cerrahpasa, Istanbul University-Cerrahpasa, Istanbul, Turkey. FAU - Tekin, Bulent AU - Tekin B AD - Department of Medical Biology, Medical Faculty of Cerrahpasa, Istanbul University-Cerrahpasa, Istanbul, Turkey. FAU - Guven, Mehmet AU - Guven M AUID- ORCID: 0000-0002-8749-1708 AD - Department of Medical Biology, Medical Faculty of Cerrahpasa, Istanbul University-Cerrahpasa, Istanbul, Turkey. mgguven@istanbul.edu.tr. LA - eng PT - Journal Article DEP - 20200508 PL - Netherlands TA - Mol Biol Rep JT - Molecular biology reports JID - 0403234 RN - 0 (Membrane Proteins) RN - E1UOL152H7 (Iron) RN - EC 3.4.21.- (Serine Endopeptidases) RN - EC 3.4.21.- (TMPRSS6 protein, human) RN - EC 3.4.21.- (matriptase 2) SB - IM MH - Adult MH - Breast Neoplasms/*genetics/metabolism MH - Female MH - Gene Expression MH - Genetic Predisposition to Disease MH - Genetic Variation MH - Genotype MH - Homeostasis/genetics MH - Humans MH - Iron/metabolism MH - Membrane Proteins/*genetics/metabolism MH - Middle Aged MH - Polymorphism, Single Nucleotide MH - Serine Endopeptidases/*genetics/metabolism OTO - NOTNLM OT - Breast cancer OT - Gene expression OT - Matriptase-2 OT - Polymorphisms OT - TMPRSS6 EDAT- 2020/05/10 06:00 MHDA- 2021/02/17 06:00 CRDT- 2020/05/10 06:00 PHST- 2020/03/02 00:00 [received] PHST- 2020/05/03 00:00 [accepted] PHST- 2020/05/10 06:00 [pubmed] PHST- 2021/02/17 06:00 [medline] PHST- 2020/05/10 06:00 [entrez] AID - 10.1007/s11033-020-05498-0 [pii] AID - 10.1007/s11033-020-05498-0 [doi] PST - ppublish SO - Mol Biol Rep. 2020 Jun;47(6):4225-4231. doi: 10.1007/s11033-020-05498-0. Epub 2020 May 8.