Reporting framework in the testing of predisposition to common adult solid tumors using next-generation sequencing

Czech version

Authors: J. Soukupová ¹; M. Koudová ²; L. Foretová ³; V. Krutílková ⁴; V. Curtisová ⁵; I. Blaháková ⁶; I. Dolinová ⁷; P. Dušková ⁸; L. Faldynová ⁹; M. Fišer ¹⁰; N. Friedová ^11,12; M. Gančarčíková ¹³; Š. Chvojka ²; M. Janatová ¹; M. Janíková ⁵; P. Kleiblová ^1,12; K. Kyselová ¹⁴; E. Macháčková ³; R. Měch ¹⁵; R. Michalovská ¹⁶; M. Nečesánková ¹⁷; Z. Spurná ¹⁰; M. Šedinová ¹⁸; M. Šenkeříková ¹⁹; Z. Šimková ²⁰; J. Šimová ²¹; I. Šubrt ²²; S. Tavandzis ⁴; P. Tesner ²³; J. Turňová ²⁴; Z. Vlčková ¹⁶; M. Vočka ^12,25; Konsorcium Czecanca ¹; pracovní skupina Onkogenetika SLG ČLS JEP ¹; Z. Kleibl ¹
Authors‘ workplace: Ústav lékařské biochemie a laboratorní diagnostiky 1. LF UK a VFN v Praze ¹; GENNET a GNTlabs by GENNET, Praha ²; Oddělení epidemiologie a genetiky nádorů, MOÚ Brno ³; Oddělení lékařské genetiky, Laboratoře AGEL a. s., Nový Jičín ⁴; Ústav lékařské genetiky FN Olomouc ⁵; Centrální laboratoř genomika, CEITEC MU, Brno ⁶; Oddělení genetiky a molekulární diagnostiky, Krajská nemocnice Liberec ⁷; Laboratoř molekulární biologie a genetiky, Nemocnice České Budějovice, a. s. ⁸; Oddělení lékařské genetiky, Ústav molekulární patologie a lékařské genetiky, FN Ostrava ⁹; Lékařská genetika, Prenet, Pardubice ¹⁰; Oddělení lékařské genetiky, FTN Praha ¹¹; Ústav biologie a lékařské genetiky 1. LF UK a VFN v Praze ¹²; Ústav klinické biochemie a diagnostiky LF v Hradci Králové UK a FN Hradec Králové ¹³; Centrum lékařské genetiky, SPADIA LAB, a. s. ¹⁴; Fertimed, s. r. o., Olomouc ¹⁵; Oddělení klinické genetiky, GHC Genetics, Praha ¹⁶; Genetika Plzeň, s. r. o., Plzeň ¹⁷; Nemocnice Jihlava, p. o., Jihlava ¹⁸; Oddělení lékařské genetiky, FN Hradec Králové ¹⁹; Ambulance lékařské genetiky, Nemocnice České Budějovice, a. s. ²⁰; EUC Laboratoře CGB a. s. ²¹; Ústav lékařské genetiky LF v Plzni UK a FN Plzeň ²²; Ústav biologie a lékařské genetiky 2. LF UK a FN Motol a Homolka ²³; Oddělení lékařské genetiky, Pronatal, Praha ²⁴; Onkologická klinika 1. LF UK a VFN v Praze ²⁵
Published in: Klin Onkol 2026; 39(1): 56-63
Category: Original Articles
doi: https://doi.org/10.48095/ccko202656

Overview

Background: Genetic testing for hereditary predisposition to solid tumors using next generation sequencing enables the analysis of a broad spectrum of genes and significantly increases diagnostic yield. However, expanding the scope of analyzed genomic regions also increases the likelihood of identifying so-called secondary findings, defined as pathogenic or likely pathogenic variants in genes unrelated to the primary indication for testing. These findings raise multiple practical, clinical, and ethical challenges. Material and methods: In the Czech Republic, an initiative was launched within the CZECANCA consortium and the Oncogenetics Working Group of the Society of Medical Genetics and Genomics of the Czech Medical Association of J. E. Purkyně with the aim of harmonizing the scope of reporting in cancer predisposition testing within the CZECANCA gene panel. Results: The consensus resulted in a list of genes and variants that should be routinely reported by laboratories during cancer predisposition testing, even in the absence of an explicit request from the indicating medical geneticist. Conclusion: The proposed harmonized approach to reporting secondary findings represents a practical tool for unifying laboratory practice in the Czech Republic. The document reflects the current state of knowledge in oncogenetics and will be regularly updated in response to emerging scientific evidence.

Keywords:

genetic testing – genes – high-throughput nucleotide sequencing – hereditary neoplastic syndromes – consensus

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