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SLC46A1 haplotype with predicted functional impact has prognostic value in breast carcinoma

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dc.title SLC46A1 haplotype with predicted functional impact has prognostic value in breast carcinoma en
dc.contributor.author Hlaváč, Viktor
dc.contributor.author Václavíková, Radka
dc.contributor.author Brynychová, Veronika
dc.contributor.author Dvořák, Pavel
dc.contributor.author Elsnerová, Kateřina
dc.contributor.author Koževnikovová, Renata
dc.contributor.author Rauš, Karel
dc.contributor.author Kopečková, Kateřina
dc.contributor.author Měšťáková, Soňa
dc.contributor.author Vrána, David
dc.contributor.author Gatěk, Jiří
dc.contributor.author Souček, Pavel
dc.relation.ispartof Molecular Diagnosis and Therapy
dc.identifier.issn 1177-1062 Scopus Sources, Sherpa/RoMEO, JCR
dc.date.issued 2021
utb.relation.volume 25
utb.relation.issue 1
dc.citation.spage 99
dc.citation.epage 110
dc.type article
dc.language.iso en
dc.publisher Adis
dc.identifier.doi 10.1007/s40291-020-00506-2
dc.relation.uri https://link.springer.com/article/10.1007/s40291-020-00506-2
dc.description.abstract Background and Objective: Membrane solute carrier transporters play an important role in the transport of a wide spectrum of substrates including anticancer drugs and cancer-related physiological substrates. This study aimed to assess the prognostic relevance of gene expression and genetic variability of selected solute carrier transporters in breast cancer. Methods: Gene expression was determined by quantitative real-time polymerase chain reaction. All SLC46A1 and SLCO1A2 exons and surrounding non-coding sequences in DNA extracted from the blood of patients with breast cancer (exploratory phase) were analyzed by next-generation sequencing technology. Common variants (minor allele frequency ≥ 5%) with in silico-predicted functional relevance were further analyzed in a large cohort of patients with breast cancer (n = 815) and their prognostic and predictive potential was estimated (validation phase). Results: A gene expression and bioinformatics analysis suggested SLC46A1 and SLCO1A2 to play a putative role in the prognosis of patients with breast cancer. In total, 135 genetic variants (20 novel) were identified in both genes in the exploratory phase. Of these variants, 130 were non-coding, three missense, and two synonymous. One common variant in SLCO1A2 and four variants in SLC46A1 were predicted to be pathogenic by in silico programs and subsequently validated. A SLC46A1 haplotype block composed of rs2239911-rs2239910-rs8079943 was significantly associated with ERBB2/HER2 status and disease-free survival of hormonally treated patients. Conclusions: This study revealed the prognostic value of a SLC46A1 haplotype block for breast cancer that should be further studied. © 2020, The Author(s), under exclusive licence to Springer Nature Switzerland AG part of Springer Nature. en
utb.faculty Faculty of Humanities
dc.identifier.uri http://hdl.handle.net/10563/1010164
utb.identifier.obdid 43882418
utb.identifier.scopus 2-s2.0-85098518339
utb.identifier.wok 000604226000001
utb.identifier.pubmed 33387348
utb.source j-scopus
dc.date.accessioned 2021-01-15T13:13:54Z
dc.date.available 2021-01-15T13:13:54Z
dc.description.sponsorship Ministry of Health of the Czech RepublicMinistry of Health, Czech Republic [17-28470A]; National Center of Medical Genomics [CZ.02.1.01/0.0/0.0/16_ 013/0001634]; Czech Ministry of Education, Youth and Sports INTERCOST [LTC19020]; Charles University project "Center of clinical and experimental liver surgery" [UNCE/MED/006]
dc.description.sponsorship CZ.02.1.01/0.0/0.0/16_013/0001634; Univerzita Karlova v Praze, UK: UNCE/MED/006; Grantová Agentura, Univerzita Karlova, GA, UK; Ministerstvo Školství, Mládeže a Tělovýchovy, MŠMT: LTC19020; Ministerstvo Zdravotnictví Ceské Republiky, MZCR: 17-28470A
utb.contributor.internalauthor Gatěk, Jiří
utb.fulltext.affiliation Viktor Hlavac1,2, Radka Vaclavikova 1,2, Veronika Brynychova 1,2, Pavel Dvorak 1,3, Katerina Elsnerova 1, Renata Kozevnikovova 4, Karel Raus 5, Katerina Kopeckova 6, Sona Mestakova 7, David Vrana 8, Jiri Gatek 9, Pavel Soucek 1,2 1 Laboratory of Pharmacogenomics, Faculty of Medicine in Pilsen, Biomedical Center, Charles University, alej Svobody 76, 323 00 Pilsen, Czech Republic 2 Toxicogenomics Unit, National Institute of Public Health, Prague, Czech Republic 3 Department of Biology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic 4 Department of Oncosurgery, MEDICON, Prague, Czech Republic 5 Institute for the Care for Mother and Child, Prague, Czech Republic 6 Department of Oncology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic 7 Department of Surgery, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic 8 Department of Oncology, Palacky University Medical School and Teaching Hospital, Olomouc, Czech Republic 9 Department of Surgery, EUC Hospital and University of Tomas Bata in Zlin, Zlin, Czech Republic
utb.fulltext.dates Accepted: 5 December 2020 Published online: 2 January 2021
utb.fulltext.sponsorship This work was supported by the Ministry of Health of the Czech Republic, (grant no. 17-28470A to P.S.), the National Center of Medical Genomics (project no. CZ.02.1.01/0.0/0.0/16_013/0001634 to V.H.), the Czech Ministry of Education, Youth and Sports INTER-COST project no. LTC19020 (COST Action CA17104 STRATAGEM to R.V.), and the Charles University project “Center of clinical and experimental liver surgery” (no. UNCE/MED/006 to P.D.).
utb.wos.affiliation [Hlavac, Viktor; Vaclavikova, Radka; Brynychova, Veronika; Dvorak, Pavel; Elsnerova, Katerina; Soucek, Pavel] Charles Univ Prague, Biomed Ctr, Fac Med Pilsen, Lab Pharmacogen, Alej Svobody 76, Plzen 32300, Czech Republic; [Hlavac, Viktor; Vaclavikova, Radka; Brynychova, Veronika; Soucek, Pavel] Natl Inst Publ Hlth, Toxicogen Unit, Prague, Czech Republic; [Dvorak, Pavel] Charles Univ Prague, Fac Med Pilsen, Dept Biol, Plzen, Czech Republic; [Kozevnikovova, Renata] MEDICON, Dept Oncosurg, Prague, Czech Republic; [Raus, Karel] Inst Care Mother & Child, Prague, Czech Republic; [Kopeckova, Katerina] Charles Univ Prague, Fac Med 2, Dept Oncol, Prague, Czech Republic; [Kopeckova, Katerina; Mestakova, Sona] Motol Univ Hosp, Prague, Czech Republic; [Mestakova, Sona] Charles Univ Prague, Fac Med 2, Dept Surg, Prague, Czech Republic; [Vrana, David] Palacky Univ, Med Sch & Teaching Hosp, Dept Oncol, Olomouc, Czech Republic; [Gatek, Jiri] EUC Hosp, Dept Surg, Zlin, Czech Republic; [Gatek, Jiri] Univ Tomas Bata Zlin, Zlin, Czech Republic
utb.scopus.affiliation Laboratory of Pharmacogenomics, Faculty of Medicine in Pilsen, Biomedical Center, Charles University, alej Svobody 76, Pilsen, 323 00, Czech Republic; Toxicogenomics Unit, National Institute of Public Health, Prague, Czech Republic; Department of Biology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic; Department of Oncosurgery, MEDICON, Prague, Czech Republic; Institute for the Care for Mother and Child, Prague, Czech Republic; Department of Oncology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic; Department of Surgery, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic; Department of Oncology, Palacky University Medical School and Teaching Hospital, Olomouc, Czech Republic; Department of Surgery, EUC Hospital and University of Tomas Bata in Zlin, Zlin, Czech Republic
utb.fulltext.projects 17-28470A
utb.fulltext.projects CZ.02.1.01/0.0/0.0/16_013/0001634
utb.fulltext.projects LTC19020
utb.fulltext.projects CA17104
utb.fulltext.projects UNCE/MED/006
utb.fulltext.faculty Faculty of Humanities
utb.fulltext.ou Department of Health Care Sciences
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