TY - JOUR
T1 - Pathogenic APC variants in latvian familial adenomatous polyposis patients
AU - Daneberga, Zanda
AU - Berzina, Dace
AU - Borosenko, Viktors
AU - Krumina, Zita
AU - Kokaine-Sapovalova, Linda
AU - Gardovskis, Andris
AU - Berga-Svitina, Egija
AU - Gardovskis, Janis
AU - Miklasevics, Edvins
N1 - Funding 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.
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
KW - APC gene
KW - CRC
KW - FAP
KW - Germline variants
KW - Pathogenic variants
UR - http://www.scopus.com/inward/record.url?scp=85072563017&partnerID=8YFLogxK
U2 - 10.3390/medicina55100612
DO - 10.3390/medicina55100612
M3 - Article
C2 - 31547110
AN - SCOPUS:85072563017
SN - 1010-660X
VL - 55
JO - Medicina (Lithuania)
JF - Medicina (Lithuania)
IS - 10
M1 - 612
ER -
