The guidelines for clinical practice for carriers of germline mutations in the Lynch syndrome predisposition genes MLH1, MSH2, MSH6, PMS2 and large deletions of EPCAM (4.2024)

Česká verzia

Authors: J. Novotný ^1,2; D. Cibula ³; V. Curtisová ⁴; O. Dubová ⁵; L. Foretová ⁶; A. Germanová ³; M. Janatová ⁷; O. Havránek ²; M. Hojsáková ⁸; M. Hudcová ⁹; M. Koudová ¹⁰; V. Krutílková ¹¹; M. Palacova ¹²; S. Paulich ¹³; K. Petrakova ¹²; J. Presl ¹⁴; A. Puchmajerová ⁹; J. Soukupová ⁷; M. Šenkeříková ^15,16; Z. Šimková ¹⁷; H. Štěpánková ¹⁷; I. Šubrt ¹⁸; I. Tachecí ¹⁹; P. Tesner ²⁰; O. Urban ²¹; K. Veselá ²; Š. Vilímová ²²; Z. Vlčková ²³; M. Vočka ^2,24; V. Weinberger ²⁵; M. Zikán ⁵; M. Zimovjanová ²⁴; Z. Kleibl ⁷; P. Kleiblová ^2,7
Authors place of work: Klinická onkologie, Institut klinické a experimentální medicíny, Praha ¹; Ústav bio logie a lékařské genetiky, 1. LF UK a VFN v Praze ²; Klinika gynekologie, porodnictví a neonatologie 1. LF UK a VFN v Praze ³; Ústav lékařské genetiky, FN Olomouc ⁴; Gynekologicko-porodnická klinika 1. LF UK a FN Bulovka, Praha ⁵; Oddělení epidemiologie a genetiky nádorů (člen ERN Genturis), MOÚ, Brno ⁶; Ústav lékařské bio chemie a laboratorní dia gnostiky, 1. LF UK a VFN v Praze ⁷; Oddělení lékařské genetiky, KN Liberec ⁸; Onkologická klinika LF UP a FN Olomouc ⁹; Centrum lékařské genetiky a reprodukční medicíny, Gennet, Praha ¹⁰; Oddělení lékařské genetiky, Laboratoře AGEL a. s., Nový Jičín ¹¹; Klinika komplexní onkologické péče LF MU a MOÚ, Brno ¹²; Oddělení klinické onkologie, KN Liberec ¹³; Gynekologicko-porodnická klinika LF v Plzni UK a FN Plzeň ¹⁴; Oddělení lékařské genetiky, FN Hradec Králové ¹⁵; Lékařská genetika, Prenet, Pardubice ¹⁶; Ambulance lékařské genetiky, Nemocnice České Budějovice ¹⁷; Ústav lékařské genetiky, LF v Plzni UK a FN Plzeň ¹⁸; II. interní gastroenterologická klinika LF v Hradci Králové UK a FN Hradec Králové ¹⁹; Ústav bio logie a lékařské genetiky (člen ERN Genturis), 2. LF UK a FN Motol, Praha ²⁰; II. interní klinika – gastroenterologická a geriatrická LF UP a FN Olomouc ²¹; Oddělení lékařské genetiky, Pronatal, Praha ²²; Oddělení klinické genetiky, GHC Genetics, Praha ²³; Onkologická klinika 1. LF UK a VFN v Praze ²⁴; Gynekologicko-porodnická klinika LF MU a FN Brno ²⁵
Published in the journal: Klin Onkol 2024; 38(5): 384-389
Category: Short Communication
doi: https://doi.org/10.48095/ccko2024384

Summary

The guidelines for clinical practice for carriers of pathogenic variants in clinically relevant genes predisposing to Lynch syndrome and colorectal cancer define the steps of primary and secondary prevention that should be provided to the individuals at high risk of developing hereditary cancer in the Czech Republic. The drafting of the guidelines was organized by the Oncogenetics Working Group of the Society for Medical Genetics and Genomics of J. E. Purkyně Czech Medical Society, in cooperation with representatives of oncology, oncogynecology, and gastroenterology. The guidelines are based on the current recommendations of the National Comprehensive Cancer Network (NCCN), European Society of Medical Oncology (ESMO) and take into account the capacity of the Czech healthcare system.

Keywords:

consensus – MLH1 – MSH6 – PMS2 – guidelines for clinical practice – germline mutation carriers – MSH2/EPCAM

Zdroje

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