Title
A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries
Date Issued
01 September 2019
Access level
open access
Resource Type
journal article
Author(s)
Della Valle A.
Rossi B.M.
Palmero E.I.
Antelo M.
Vaccaro C.A.
López-Kostner F.
Alvarez K.
Cruz-Correa M.
Bruno L.I.
Forones N.M.
Mindiola J.A.R.
Spirandelli F.
Bohorquez M.
Cock-Rada A.M.
Sullcahuaman Y.
Nascimento I.
Abe-Sandes K.
Lino-Silva L.S.
Petracchi F.
Mampel A.
Rodriguez Y.
Rossi N.T.
Yañez C.B.
Rubio C.
Petta-Lajus T.B.
Silveira-Lucas E.L.
Jiménez G.
Peña C.M.M.
Reyes-Silva C.
Ayala-Madrigal M.d.l.L.
del Monte J.S.
Quispe R.
Recalde A.
Neffa F.
Sarroca C.
de Campos Reis Galvão H.
Golubicki M.
Piñero T.A.
Kalfayan P.G.
Ferro F.A.
Gonzalez M.L.
Pérez-Mayoral J.
Pimenta C.A.M.
Uyaban S.P.B.
Chávez G.
Gil M.L.G.
Spirandelli E.
Chialina S.
Echeverry M.
Fuenmayor L.J.P.
Torres M.
Palma T.F.B.
Héritas N.C.
Martin C.
Suárez A.
Vallejo M.
Rafaela de Souza Timoteo A.
Ayala C.A.
Jaramillo-Koupermann G.
Hernández-Sandoval J.A.
Guerrero A.H.
Wernhoff P.
Plazzer J.P.
Balavarca Y.
Hovig E.
Møller P.
Abstract
We aimed to assess the current genetics practice to manage patients with Lynch syndrome (LS) across Latin America. A Latin American LS survey was sent out to 52 centres/registries, comprising a total of 12 countries from the region. Overall, 33 centres completed the survey, of which the oldest LS registry was established in 1992 in Sao Paulo (Brazil), and the youngest this year in San Jose (Costa Rica). In total, 87% (26/30) of the participating centres/registries belonging to the nine countries are performing genetic testing. Overall, 1352 suspected families were sequenced. Pathogenic variants were identified in 34% of the families, with slightly differing distribution of variants between females and males. Path_MLH1 variants were identified in 39% of females and 50% of males (p = 0.023), while path_MSH2 were identified in 37% of females and males, followed by path_PMS2 in 11% of females and 8% of males, path_MSH6 in 13% of females and 3% of males (p < 0.001) and path_EPCAM in 0.3% of females and 2% of males. In Latin America, 9 of 12 (75%) participating countries had implemented healthcare for LS. LS screening is inconsistently applied within Latin America healthcare systems because of structural differences in the healthcare systems between the countries.
Start page
112
End page
121
Volume
119
Language
English
OCDE Knowledge area
Medicina clínica
Scopus EID
2-s2.0-85070842210
PubMed ID
Source
European Journal of Cancer
Resource of which it is part
European Journal of Cancer
ISSN of the container
09598049
DOI of the container
10.1016/j.ejca.2019.07.017
Sponsor(s)
The authors thank the families for their participation and contribution to this study. The authors also thank SINAPSIS to promote collaborative research. This work was supported by the Radium Hospital Foundation (Oslo, Norway), the Norwegian Cancer Society , contract 194751-2017 and Helse Sør-Øst (Norway) in the design of the study and collection, analysis and interpretation of data and in writing the manuscript. The Barretos Cancer Hospital (Brazil) was partially supported by FINEP-CT- INFRA (02/2010). E.I.P. is recipient of a CNPq Productivity Grant.
Sources of information: Directorio de Producción Científica Scopus