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:
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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24. Burn J, Gerdes AM, Macrae F et al. Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet 2011; 378 (9809): 2081–2087. doi: 10.1016/S0140-6736 (11) 61049-0.
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Paediatric clinical oncology Surgery Clinical oncologyČlánok vyšiel v časopise
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