From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America

in collaboration with GETH

Research output: Contribution to journalReview articlepeer-review

5 Scopus citations

Abstract

Colorectal cancer (CRC) is one of the most common cancers in Latin America and the Caribbean, with the highest rates reported for Uruguay, Brazil and Argentina. We provide a global snapshot of the CRC patterns, how screening is performed, and compared/contrasted to the genetic profile of Lynch syndrome (LS) in the region. From the literature, we find that only nine (20%) of the Latin America and the Caribbean countries have developed guidelines for early detection of CRC, and also with a low adherence. We describe a genetic profile of LS, including a total of 2,685 suspected families, where confirmed LS ranged from 8% in Uruguay and Argentina to 60% in Peru. Among confirmed LS, path_MLH1 variants were most commonly identified in Peru (82%), Mexico (80%), Chile (60%), and path_MSH2/EPCAM variants were most frequently identified in Colombia (80%) and Argentina (47%). Path_MSH6 and path_PMS2 variants were less common, but they showed important presence in Brazil (15%) and Chile (10%), respectively. Important differences exist at identifying LS families in Latin American countries, where the spectrum of path_MLH1 and path_MSH2 variants are those most frequently identified. Our findings have an impact on the evaluation of the patients and their relatives at risk for LS, derived from the gene affected. Although the awareness of hereditary cancer and genetic testing has improved in the last decade, it is remains deficient, with 39%–80% of the families not being identified for LS among those who actually met both the clinical criteria for LS and showed MMR deficiency.

Original languageEnglish
Pages (from-to)318-326
Number of pages9
JournalInternational Journal of Cancer
Volume145
Issue number2
DOIs
StatePublished - 15 Jul 2019

Bibliographical note

Funding Information:
We thank the families for their participation and contribution to our study. This work was supported by the Radium Hospital Foundation (Oslo, Norway) in the design of the study and collection, analysis, and interpretation of data and in writing the manuscript, Helse S?r-?st (Norway) in the design of the study and collection, analysis, and interpretation of data and in writing the manuscript. This work was supported by the The Norwegian Cancer Society, contract 194751-2017.

Funding Information:
We thank the families for their participation and contribution to our study. This work was supported by the Radium Hospital Foundation (Oslo, Norway) in the design of the study and collection, analysis, and interpretation of data and in writing the manuscript, Helse Sør-χst (Norway) in the design of the study and collection, analysis, and interpretation of data and in writing the manuscript. This work was supported by the The Norwegian Cancer Society, contract 194751-2017.

Publisher Copyright:
© 2018 The Authors. International Journal of Cancer published by John Wiley & Sons Ltd on behalf of UICC.

Keywords

  • Latin America
  • colorectal cancer
  • hereditary
  • lynch syndrome

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