Pathogenic APC variants in latvian familial adenomatous polyposis patients

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dc.contributor.authorDaneberga, Zanda
dc.contributor.authorBerzina, Dace
dc.contributor.authorBorosenko, Viktors
dc.contributor.authorKrumina, Zita
dc.contributor.authorKokaine-Sapovalova, Linda
dc.contributor.authorGardovskis, Andris
dc.contributor.authorBerga-Svitina, Egija
dc.contributor.authorGardovskis, Janis
dc.contributor.authorMiklasevics, Edvins
dc.contributor.institutionOnkoloģijas institūts
dc.contributor.institutionDepartment of Biology and Microbiology
dc.contributor.institutionDepartment of Surgery
dc.date.accessioned2021-05-05T08:40:01Z
dc.date.available2021-05-05T08:40:01Z
dc.date.issued2019
dc.descriptionFunding Information: This research was funded by the state research program ?Biomedicine for Public Health (BIOMEDICINE)" project 5 ?Personalized cancer diagnostics and treatment effectiveness evaluation?. Publisher Copyright: © 2019 by the authors. Licensee MDPI, Basel, Switzerland. Copyright: Copyright 2019 Elsevier B.V., All rights reserved.
dc.description.abstractBackground and objectives: Familial adenomatous polyposis is one of the APC-associated polyposis conditions described as genetically predetermined colorectal polyposis syndrome with a variety of symptoms. The purpose of this study was to determine sequence variants of the APC gene in patients with familial adenomatous polyposis (FAP) phenotype and positive or negative family history. Materials and Methods: Eight families with defined criteria of adenomatous polyposis underwent molecular genetic testing. Coding regions and flanking intron regions of the APC gene were analyzed by Sanger sequencing. Results: Eight allelic variants of the APC gene coding sequence were detected. All allelic variants of the APC gene were predicted to be pathogenic based on criteria according to the “Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology” (2015), four of them c.1586_1587insAT, c.2336delT, c.3066_3067insGA, and c.4303_4304insC, were considered novel. Conclusions: The timely molecular genetic analysis of APC germline variants and standardized interpretation of the pathogenicity of novel allelic variants has a high impact on choice for treatment, cancer prevention, and family genetic counseling.en
dc.description.statusPeer reviewed
dc.format.extent7
dc.format.extent1019180
dc.identifier.citationDaneberga, Z, Berzina, D, Borosenko, V, Krumina, Z, Kokaine-Sapovalova, L, Gardovskis, A, Berga-Svitina, E, Gardovskis, J & Miklasevics, E 2019, 'Pathogenic APC variants in latvian familial adenomatous polyposis patients', Medicina (Lithuania), vol. 55, no. 10, 612. https://doi.org/10.3390/medicina55100612
dc.identifier.doi10.3390/medicina55100612
dc.identifier.issn1010-660X
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/4101
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85072563017&partnerID=8YFLogxK
dc.language.isoeng
dc.relation.ispartofMedicina (Lithuania)
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectAPC gene
dc.subjectCRC
dc.subjectFAP
dc.subjectGermline variants
dc.subjectPathogenic variants
dc.subject3.2 Clinical medicine
dc.subject3.1 Basic medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.subjectGeneral Medicine
dc.subjectSDG 3 - Good Health and Well-being
dc.titlePathogenic APC variants in latvian familial adenomatous polyposis patientsen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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