Analysis of Molecular Genetic Testing for Hereditary Forms of Cancer 2020–2022

Activity: Talk or presentation typesPoster presentation

Description

The aim of this study was to determine the clinical and molecular characteristics of patients in years 2020-2022 who underwent hereditary cancer multigene panel testing due to clinical histories suggestive for increased risk of hereditary cancer syndrome.. This retrospective study includes 206 patients, of whom 70 were paediatric cancer cases, 120 adults mostly breast cancer cases, 16 adult cases were referred for cascade screening due to positive family history. Years included in study are 2020-2022. Patients were tested by gene panel done with massive parallel sequencing. Family variants were confirmed by Sanger sequencing.. The mean age at the time of NGS in minors was 13 years, adults - 46 years. Overall, genetic testing identified a disease causing pathogenic or likely pathogenic variant in 37% of patients (n = 70), 17% of minors (n = 12), 48% of adults (n = 58). The cascade screening for the asymptomatic persons was positive in 88% (n=14), negative in 12% (n = 2). BRCA1 (n = 28; 48%) BRCA2, (n = 10; 17%), CHEK2 (n = 8; 14%) were the most identified variants in adults. Causative variants in ATM, 9% (n = 5), PALB2, 5% (n = 3), RAD51C, 1,9% (n = 1), FANCM, 1,9% (n = 1), TP53, 1,9% (n = 1), and MSH6, 1,9% (n = 1) were also identified. 33% (n=15) from all positive BRCA1/2 variants were founder mutations already known in our population by previous studies. Test result was negative in 51% (n = 69) of patients. 9 variants of uncertain significance (VUS) were identified in 7% (n = 9) of patients. . The findings demonstrate the clinical significance of genetic testing for patients with clinical histories meeting diagnostic criteria for a specific hereditary cancer syndrome for better cancer surveillance and management strategies.
Period29 Mar 2023
Event titleRSU International Research Conference 2023: Knowledge for Use in Practice
Event typeConference
OrganiserRīga Stradiņš University
LocationRiga, LatviaShow on map
Degree of RecognitionInternational