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Role of genetic variation in ABC transporters in breast cancer prognosis and therapy response

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dc.title Role of genetic variation in ABC transporters in breast cancer prognosis and therapy response en
dc.contributor.author Hlaváč, Viktor
dc.contributor.author Václavíková, Radka
dc.contributor.author Brynychová, Veronika
dc.contributor.author Koževnikovová, Renata
dc.contributor.author Kopečková, Kateřina
dc.contributor.author Vrána, David
dc.contributor.author Gatěk, Jiří
dc.contributor.author Souček, Pavel
dc.relation.ispartof International Journal of Molecular Sciences
dc.identifier.issn 1661-6596 Scopus Sources, Sherpa/RoMEO, JCR
dc.identifier.issn 1422-0067 Scopus Sources, Sherpa/RoMEO, JCR
dc.date.issued 2020
utb.relation.volume 21
utb.relation.issue 24
dc.citation.spage 1
dc.citation.epage 17
dc.type article
dc.language.iso en
dc.publisher MDPI AG
dc.identifier.doi 10.3390/ijms21249556
dc.relation.uri https://www.mdpi.com/1422-0067/21/24/9556
dc.subject ABC transporter en
dc.subject therapy response en
dc.subject disease-free survival en
dc.subject breast cancer en
dc.subject next-generation sequencing en
dc.subject competitive allele-specific PCR en
dc.description.abstract Breast cancer is the most common cancer in women in the world. The role of germline genetic variability in ATP-binding cassette (ABC) transporters in cancer chemoresistance and prognosis still needs to be elucidated. We used next-generation sequencing to assess associations of germline variants in coding and regulatory sequences of all human ABC genes with response of the patients to the neoadjuvant cytotoxic chemotherapy and disease-free survival (n = 105). A total of 43 prioritized variants associating with response or survival in the above testing phase were then analyzed by allelic discrimination in the large validation set (n = 802). Variants in ABCA4, ABCA9, ABCA12, ABCB5, ABCC5, ABCC8, ABCC11, and ABCD4 associated with response and variants in ABCA7, ABCA13, ABCC4, and ABCG8 with survival of the patients. No association passed a false discovery rate test, however, the rs17822931 (Gly180Arg) in ABCC11, associating with response, and the synonymous rs17548783 in ABCA13 (survival) have a strong support in the literature and are, thus, interesting for further research. Although replicated associations have not reached robust statistical significance, the role of ABC transporters in breast cancer should not be ruled out. Future research and careful validation of findings will be essential for assessment of genetic variation which was not in the focus of this study, e.g., non-coding sequences, copy numbers, and structural variations together with somatic mutations. © 2020 by the authors. Licensee MDPI, Basel, Switzerland. en
utb.faculty Faculty of Humanities
dc.identifier.uri http://hdl.handle.net/10563/1010150
utb.identifier.obdid 43881689
utb.identifier.scopus 2-s2.0-85098170378
utb.identifier.wok 000602861800001
utb.identifier.pubmed 33334016
utb.source j-scopus
dc.date.accessioned 2021-01-08T14:02:35Z
dc.date.available 2021-01-08T14:02:35Z
dc.description.sponsorship Czech Medical Council [17-28470A]; Czech Ministry of Education, Youth and SportsMinistry of Education, Youth & Sports - Czech Republic [CZ.02.1.01/0.0/0.0/16_013/0001634]; Grant Agency of Charles University [UNCE/MED/006]; Grant Agency of the Czech RepublicGrant Agency of the Czech Republic [19-03063S]
dc.rights Attribution 4.0 International
dc.rights.uri https://creativecommons.org/licenses/by/4.0/
dc.rights.access openAccess
utb.contributor.internalauthor Gatěk, Jiří
utb.fulltext.affiliation Viktor Hlaváč 1,2, Radka Václavíková 1,2, Veronika Brynychová 1,2, Renata Koževnikovová 3, Katerina Kopečková 4, David Vrána 5, Jiří Gatěk 6, Pavel Souček 1,2* 1 Toxicogenomics Unit, National Institute of Public Health, 100 42 Prague, Czech Republic; viktor.hlavac@szu.cz (V.H.); rvaclavikova@seznam.cz (R.V.); veronikabrynychova@seznam.cz (V.B.) 2 Biomedical Center, Faculty of Medicine in Pilsen, Charles University, 323 00 Pilsen, Czech Republic 3 Department of Oncosurgery, Medicon Services, 140 00 Prague, Czech Republic; renata.kozevnikovova@onko-centrum.cz 4 Department of Oncology, Second Faculty of Medicine, Charles University and Motol University Hospital, 150 06 Prague, Czech Republic; katerina.kopeckova@fnmotol.cz 5 Department of Oncology, Medical School and Teaching Hospital, Palacky University, 779 00 Olomouc, Czech Republic; davvrana@gmail.com 6 Department of Surgery, EUC Hospital and University of Tomas Bata in Zlin, 760 01 Zlin, Czech Republic; gatekj@gmail.com * Correspondence: pavel.soucek@szu.cz; Tel.: +420-267-082-711
utb.fulltext.dates Received: 19 November 2020 Accepted: 11 December 2020 Published: 15 December 2020
utb.fulltext.sponsorship This research was funded by the Czech Medical Council, grant number 17-28470A to P.S., the Czech Ministry of Education, Youth and Sports, grant number CZ.02.1.01/0.0/0.0/16_013/0001634 to V.H., the Grant Agency of Charles University, grant number UNCE/MED/006 to V.B. and the Grant Agency of the Czech Republic, grant number 19-03063S to P.S.
utb.wos.affiliation [Hlavac, Viktor; Vaclavikova, Radka; Brynychova, Veronika; Soucek, Pavel] Natl Inst Publ Hlth, Toxicogen Unit, Prague 10042, Czech Republic; [Hlavac, Viktor; Vaclavikova, Radka; Brynychova, Veronika; Soucek, Pavel] Charles Univ Prague, Fac Med Pilsen, Biomed Ctr, Plzen 32300, Czech Republic; [Kozevnikovova, Renata] Medicon Serv, Dept Oncosurg, Prague 14000, Czech Republic; [Kopeckova, Katerina] Charles Univ Prague, Fac Med 2, Dept Oncol, Prague 15006, Czech Republic; [Kopeckova, Katerina] Motol Univ Hosp, Prague 15006, Czech Republic; [Vrana, David] Palacky Univ, Sch Med, Dept Oncol, Olomouc 77900, Czech Republic; [Vrana, David] Palacky Univ, Teaching Hosp, Olomouc 77900, Czech Republic; [Gatek, Jiri] EUC Hosp, Dept Surg, Zlin 76001, Czech Republic; [Gatek, Jiri] Univ Tomas Bata Zlin, Zlin 76001, Czech Republic
utb.scopus.affiliation Toxicogenomics Unit, National Institute of Public Health, Prague, 100 42, Czech Republic; Biomedical Center, Faculty of Medicine in Pilsen, Charles University, Pilsen, 323 00, Czech Republic; Department of Oncosurgery, Medicon Services, Prague, 140 00, Czech Republic; Department of Oncology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, 150 06, Czech Republic; Department of Oncology, Medical School and Teaching Hospital, Palacky University, Olomouc, 779 00, Czech Republic; Department of Surgery, EUC Hospital and University of Tomas Bata in Zlin, Zlin, 760 01, Czech Republic
utb.fulltext.projects 17-28470A
utb.fulltext.projects CZ.02.1.01/0.0/0.0/16_013/0001634
utb.fulltext.projects UNCE/MED/006
utb.fulltext.projects 19-03063S
utb.fulltext.faculty Faculty of Humanities
utb.fulltext.ou Department of Health Care Sciences
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