Doporučené postupy klinické péče o nosiče zárodečných mutací v genech MLH1, MSH2, MSH6, PMS2 a velkých delecí EPCAM predisponujících ke vzniku Lynchova syndromu (4.2024)

Title in English	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)
Authors	NOVOTNÝ J. CIBULA D. CURTISOVÁ V. DUBOVÁ O. FORETOVÁ L. GERMANOVÁ A. JANATOVÁ M. HAVRÁNEK O. HOJSÁKOVÁ M. HUDCOVÁ M. KOUDOVÁ M. KRUTÍLKOVÁ V. PALÁCOVÁ Markéta PAULICH S. PETRÁKOVÁ Katarína PRESL J. PUCHMAJEROVÁ A. SOUKUPOVÁ J. ŠENKEŘÍKOVÁ M. ŠIMKOVÁ Z. ŠTĚPÁNKOVÁ H. ŠUBRT I. TACHECÍ I. TESNER P. URBAN O. VESELÁ K. VILÍMOVÁ Š. VLČKOVÁ Z. VOČKA M. WEINBERGER Vít ZIKÁN M. ZIMOVJANOVÁ M. KLEIBL Z. KLEIBLOVÁ P.
Year of publication	2024
Type	Article in Periodical
Magazine / Source	Klinická onkologie
MU Faculty or unit	Faculty of Medicine
Citation
web	https://www.linkos.cz/casopis-klinicka-onkologie/2024-10-15-5/doporucene-postupy-klinicke-pece-o-nosice-zarodecnych-mutaci-v-genech-mlh1-msh2/
Doi	http://dx.doi.org/10.48095/ccko2024384
Keywords	MLH1; MSH2/EPCAM; MSH6; PMS2; consensus; guidelines for clinical practice; germline mutation carriers
Description	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.