Abstract
After decades of unawareness about Lynch syndrome, the medical community in South America is increasingly interested and informed. The visits and support of mentors like H. T. Lynch had been crucial to this awakening. Several countries have at least one registry with skilled personnel in genetic counseling and research. However, this only represents a very restricted resource for the region. According to the GETH, there are 27 hereditary cancer care centers in South America (21 in Brazil, 3 in Argentina, 1 in Uruguay, 1 in Chile and 1 in Peru). These registries differ in fundamental aspects of function, capabilities and funding, but are able to conduct high quality clinical, research and educational activities due to the dedication and personal effort of their members, and organizational support. More support from the governments as well as the participation of the community would boost the initiatives of people leading these groups. Meantime, the collaboration among the South American registries and the involvement of registries and leaders from developed countries will allow to maximize the efficiency in caring for affected patients and their families. The aim of this article is to describe how the knowledge of LS began to be spread in South America, how the first registries were organized and to summarize the current state of progress. In addition, we will provide an update of the clinical and molecular findings in the region.
Similar content being viewed by others
References
Church J, Kiringoda R, LaGuardia L (2004) Inherited colorectal cancer registries in the United States. Dis Colon Rectum 47:674–678
Bülow S (2003) Results of national registration of familial adenomatous polyposis. Gut 52:742–746
Sarroca C, Ferreira WA, Quadrelli R (1977) Cáncer colónico familiar sin poliposis: enfoque clínico y anátomo-patológico, Perspectivas de estudio genético. Cir del Urug 47:515–520
Sarroca C, Quadrelli R, Praderi R (1978) Cancer colique familial. Nouv Press Med 7:1412
Raevaara TE et al (2003) Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein. Gastroenterology 125:501–509
Vaccaro C, Bonadeo F, Benati M, Ojea Quintana G (1997) Sindrome de Lynch: implicancias de una patología subdignosticada. Rev Argent Cirug 3:110–120
Vaccaro C et al (2007) Hereditary nonpolyposis colorectal cancer (Lynch Syndrome) in Argentina: report from a referral hospital register. Dis Colon Rectum 50:1604–1611
Fullerton D, López F, Rahmer A (2004) Hereditary nonpolyposis colorectal cancer: surgical treatment and pedigree analysis. Rev Med Chil 132:539–547
Bellolio RF et al (2006) Cáncer colorrectal hereditario: análisis molecular de los genes APC y MLH1. Rev Med Chil 134:841–848
Alvarez K et al (2010) Spectrum of MLH1 and MSH2 mutations in Chilean families with suspected Lynch syndrome. Dis Colon Rectum 53:450–459
Rossi B et al (2002) hMLH1 and hMSH2 gene mutation in Brazilian families with suspected hereditary nonpolyposis colorectal cancer. Ann Surg Oncol 9:555–561
Sarroca C et al (2005) Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer. Clin Genet 68:80–87
Giraldo A et al (2005) MLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome)–description of four novel mutations. Fam Cancer 4:285–290
Valentin MD et al (2011) Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals. Fam Cancer 10:641–647
Alonso-Espinaco V et al (2011) Novel MLH1 duplication identified in Colombian families with Lynch syndrome. Genet Med Off J Am Coll Med Genet 13:155–160
Wielandt A et al (2012) Lynch syndrome: selection of families by microsatellite instability and immunohistochemistry. Rev Med Chil 140:1132–1139
Dominguez-Valentin M et al (2013) Mutation spectrum in South American Lynch syndrome families. Hered Cancer Clin Pr 11:18
Carneiro da Silva F et al (2015) Clinical and molecular characterization of Brazilian patients suspected to have Lynch syndrome. PLoS One 10:e0139753
Isidro G et al (2000) Four novel MSH2/MLH1 gene mutations in portuguese HNPCC families. Hum Mutat 15:116
Valentin MD et al (2012) Evaluation of MLH1 I219 V polymorphism in unrelated South American individuals suspected of having Lynch syndrome. Anticancer Res 32:4347–4351
Sarroca C, Alfano N, Bendin GT, Della Valle A, Dominguez CA, Quadrelli R (2000) Hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay. Dis Colon Rectum 43:353–362
Plan Nacional de Tumores Familiares y Hereditarios (PROCAFA). Instituto Nacional del Cáncer, Ministerio de Salud de la Nación. http://www.msal.gov.ar/inc/index.php/programas/plan-nacional-de-tumores-familiares-y-hereditarios-procafa
Nuñez L, Ortiz de Rozas V, Kalfayan P, Viniegra M (2014) Censo de recursos humanos y recursos moleculares para diagnóstico y evaluación de cáncer hereditario en Argentina. Rev Argent Salúd Pública 5:25–29
Red Argentina de Cáncer Familiar (RACAF). Instituto Nacional del Cáncer, Ministerio de Salud de la Nación. http://bit.ly/1eBo301
Warthin A (1913) Hereditary with reference to carcinoma as shown by the study of the cases examined in the pathological laboratory of the University of Michigan, 1895–1913. Arch Int Med 12:546–555
Acknowledgments
The authors thank Travis Bray, Ph.D, Previvor, Founder, and Executive Director of the Hereditary Colon Cancer Foundation (http://www.HCCTakesGuts.org) and Marina Antelo, Daniela Milito, Mariano Golubicki and Mario Barugel from the Oncology Section of the Hospital of Gastroenterology “Dr. C. B. Udaondo” of Buenos Aires, Argentina, for their contributions to the present manuscript.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Vaccaro, C.A., Sarroca, C., Rossi, B. et al. Lynch syndrome in South America: past, present and future. Familial Cancer 15, 437–445 (2016). https://doi.org/10.1007/s10689-016-9903-7
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10689-016-9903-7