Screening for Hereditary Cancer in Latin America

Álvarez, Carolina; Domínguez, Mev; Carvallo, Pilar

doi:10.1016/b978-0-12-811531-2.00003-5

Cited by 1 publication

(1 citation statement)

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“…This whole process of network construction and research development on hereditary cancer in Latin America prepares the ground for global Latin American collaborations on increasing the knowledge of MMR variants in different populations and to bring additional awareness of this condition to medical professionals and public health leaders in this region. Since its inception, more than ten international scientific publications have been generated in hereditary CRC by our network . Furthermore, Argentina, Uruguay and Chile have initiated their participation on the PLSD, providing information of a total of 128 prospective path_MMR carriers to enrich the global database of variation.…”

Section: Latin American Hereditary Crc Collaborative Research Networkmentioning

confidence: 99%

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

Vaccaro

López-Köstner

Adriana

et al. 2018

Intl Journal of Cancer

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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.

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Section: Latin American Hereditary Crc Collaborative Research Networkmentioning

confidence: 99%