Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry

Autor:	Benjamín Solar, Paulina Orellana, Eliana Pinto, Udo Kronberg, Pål Møller, Tamara Canales, Karin Alvarez, Marjorie De la Fuente, Mev Dominguez-Valentin, Claudia Hurtado, Claudio Heine, Alejandro J. Zarate, Francisco López-Köstner
Rok vydání:	2020
Předmět:	0301 basic medicine Oncology medicine.medical_specialty Genetic counseling Population lcsh:Medicine MLH1 Article 03 medical and health sciences 0302 clinical medicine Internal medicine PMS2 Medicine Cumulative incidence mismatch repair gene education extracolonic tumors education.field_of_study business.industry lcsh:R General Medicine medicine.disease Lynch syndrome CRC 030104 developmental biology MSH2 030220 oncology & carcinogenesis business Cancer risk
Zdroj:	Journal of Clinical Medicine Journal of Clinical Medicine, Vol 9, Iss 1861, p 1861 (2020) Volume 9 Issue 6
ISSN:	2077-0383
DOI:	10.3390/jcm9061861
Popis:	Lynch syndrome (LS) is associated with the highest risk of colorectal (CRC) and several extracolonic cancers. In our effort to characterize LS families from Latin America, this study aimed to describe the spectrum of neoplasms and cancer risk by gender, age and gene, and survival in 34 Chilean LS families. Of them, 59% harbored path_MLH1, 23% path_MSH2, 12% path_PMS2 and 6% path_EPCAM variants. A total of 866 individuals at risk were identified, of which 213 (24.6%) developed 308 neoplasms. In males, CRC was the most common cancer (72.6%), while females showed a greater frequency of extracolonic cancers (58.4%), including uterus and breast (p < 0.0001). The cumulative incidence of extracolonic cancers was higher in females than males (p = 0.001). Path_MLH1 variants are significantly more associated with the development of CRC than extracolonic tumors (59.5% vs. 40.5%) when compared to path_MSH2 (47.5% vs. 52.5%) variants (p = 0.05018). The cumulative incidence of CRC was higher in path_MLH1/path_MSH2 carriers compared to path_PMS2 carriers (p = 0.03). In addition, path_MSH2 carriers showed higher risk of extracolonic tumors (p = 0.002). In conclusion, this study provides a snapshot of the LS profile from Chile and the current LS-associated diagnostic practice and output in Chile. Categorizing cancer risks associated with each population is relevant in the genetic counselling of LS patients.
Databáze:	OpenAIRE
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