Tohoku J. Exp. Med., 2022 December, 258(4)

Contribution of Inherited Variants to Hereditary Cancer Syndrome Predisposition

Gülay Güleç Ceylan,^1,2 S. Betül Arslan Satılmış,¹ Büşranur Çavdarlı¹ and C. Nur Semerci Gündüz^1,2

¹Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey
²Department of Medical Genetics, Ankara Yıldırım Beyazıt University, Ankara, Turkey

Cancer is a clonal disease that develops as a result of the changes on the genetic material by various factors in micro/macro environment. It has a multi-step development process. In some cancer types, genetic factors allow this multi-step process to proceed easily. These cancer types are also called hereditary cancer syndromes. Targeted gene panels are important diagnostic methods in hereditary cancer syndromes to detect the causative variants associated with these hereditary cancer syndromes. We reviewed the data of 94 patients who applied to Ankara City Hospital Genetic Diseases Evaluation Center from March 2019 to July 2021. Qiagen familial cancer susceptibility gene panel kit was used for next generation sequencing to detect the single nucleotide variants for the targeted genes. Sixty-one genes which are associated with increased cancer risk or well characterized hereditary cancer syndromes were included to this panel. Twenty five patients (27%), including 8 males and 17 females, had pathogenic/likely pathogenic variants in 13 of the 61 genes analyzed. Forty patients (43%) had variants which were assessed as variant of unknown significant. In our study, targeted multi-gene panel was diagnostic in nearly one third of the patients with personal/familial cancer syndromes. Molecular diagnosis in familial cancer syndromes is important in terms of predictive diagnosis and family screening, as well as patient follow-up and early prophylactic surgery. The predisposition for hereditary cancer syndromes can be determined according to pre-test evaluation, figuring out the inheritance type with pedigree analysis, cancer type and the genetic analysis for appropriate susceptibility genes.

Keywords —— genetics; hereditary cancer syndrome; next generation sequencing; pathogenic variant; variant of unknown significance

© 2022 Tohoku University Medical Press

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Tohoku J. Exp. Med 2022, 258, 319-325.

Correspondence: Gülay Güleç Ceylan, Department of Medical Genetics, Ankara City Hospital, Üniversiteler Mah, Bilkent, Çankaya, Ankara 06800, Turkey.

e-mail: gulayceylan23@gmail.com