Akademik Veri Yönetim Sistemi
57th European Society of Human Genetics (ESHG) Conference, Berlin, Almanya, 1 - 04 Haziran 2024, ss.930
Background: Big data generated from whole exome sequencing
(WES) and whole genome sequencing (WGS) analyses can be
used to detect actionable and high-penetrance variants that are
not directly associated with the primary diagnosis of patients but
can guide their clinical follow-up and treatment. Variants that are
classified as pathogenic/likely pathogenic and are clinically
significant but not directly associated with the primary diagnosis
of patients are defined as secondary findings (SF). The aim of this
study was to examine the frequency and variant spectrum of cancer related SF in the Turkish population and to discuss the
importance of the presence of cancer related SF in at-risk family
members in terms of genetic counseling and follow-up.
Methods: A total of 2020 patients from 2020 different families
were evaluated by WES.
Results: SF were detected in 20 unrelated cases (0.99%), and
variants in BRCA2 (11 patients) and BRCA2 (2 patients) genes were
observed most frequently. A total of 17 different variants were
identified, with 4 of them (c.9919_9932del and c.3653delG in the
BRCA2 gene, c.2002A>G in the MSH2 gene, c.26_29delTGCC in the
TMEM127 gene) being novel variations. In 3 different families,
c.1189C>T (p.Q397*) variation in BRCA2 gene was detected,
suggesting that this may be a common variant in the Turkish
population.
Conclusion: This study represents the largest cohort conducted
in the Turkish population, examining the frequency and variant
spectrum of cancer-related SF. Genetic testing conducted in family
members is presented as real-life data, showcasing the implications
in terms of counseling, monitoring, and treatment through
case examples.
Grants: None.
Conflict of Interest: None declared