Pathogenic APC Variants in Latvian Familial Adenomatous Polyposis Patients
by
Zanda Daneberga 1,*
, Dace Berzina 1, Viktors Borosenko 2, Zita Krumina 3, Linda Kokaine-Sapovalova 2, Andris Gardovskis 1,2, Egija Berga-Svitina 1, Janis Gardovskis 4 and Edvins Miklasevics 1
Zanda Daneberga 1,*, Dace Berzina 1, Viktors Borosenko 2, Zita Krumina 3, Linda Kokaine-Sapovalova 2, Andris Gardovskis 1,2, Egija Berga-Svitina 1, Janis Gardovskis 4 and Edvins Miklasevics 1
1
Institute of Oncology, Riga Stradiņš University, LV-1007 Riga, Latvia
2
Department of Surgery, Pauls Stradiņš Clinical University Hospital, LV-1002 Riga, Latvia
3
Department of Biology and Microbiology, Riga Stradiņš University, LV-1007 Riga, Latvia
4
Department of Surgery, Riga Stradiņš University, LV-1007, Riga, Latvia
*
Author to whom correspondence should be addressed.
Medicina 2019, 55(10), 612; https://doi.org/10.3390/medicina55100612
Received: 27 June 2019 / Revised: 16 August 2019 / Accepted: 18 September 2019 / Published: 20 September 2019
Background 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.
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Keywords:
FAP; APC gene; CRC; pathogenic variants; germline variants
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MDPI and ACS Style
Daneberga, Z.; Berzina, D.; Borosenko, V.; Krumina, Z.; Kokaine-Sapovalova, L.; Gardovskis, A.; Berga-Svitina, E.; Gardovskis, J.; Miklasevics, E. Pathogenic APC Variants in Latvian Familial Adenomatous Polyposis Patients. Medicina 2019, 55, 612.
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