Literature DB >> 27007491

Lynch syndrome in South America: past, present and future.

Carlos A Vaccaro1, Carlos Sarroca2, Benedito Rossi3, Francisco Lopez-Kostner4, Mev Dominguez5,6, Natalia Causada Calo7, Raul Cutait8, Adriana Della Valle2, Lina Nuñez9, Florencia Neffa2, Karin Alvarez4, Maria Laura Gonzalez7, Pablo Kalfayan7, Henry T Lynch10, James Church11.   

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.

Entities:  

Keywords:  Genetic counseling; Genetic testing; Hereditary cancer registry; Hereditary colorectal cancer; Lynch syndrome

Mesh:

Year:  2016        PMID: 27007491     DOI: 10.1007/s10689-016-9903-7

Source DB:  PubMed          Journal:  Fam Cancer        ISSN: 1389-9600            Impact factor:   2.375


  19 in total

1.  MLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome)--description of four novel mutations.

Authors:  Alejandro Giraldo; Andrea Gómez; Gustavo Salguero; Herbert García; Fabio Aristizábal; Oscar Gutiérrez; Luis Alberto Angel; Jorge Padrón; Carlos Martínez; Humberto Martínez; Omar Malaver; Luis Flórez; Rosa Barvo
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

2.  Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.

Authors:  Mev Dominguez Valentin; Felipe Carneiro da Silva; Erika Maria Monteiro dos Santos; Bianca Garcia Lisboa; Ligia Petrolini de Oliveira; Fabio de Oliveira Ferreira; Israel Gomy; Wilson Toshihiko Nakagawa; Samuel Aguiar Junior; Mariana Redal; Carlos Vaccaro; Adriana Della Valle; Carlos Sarroca; Dirce Maria Carraro; Benedito Mauro Rossi
Journal:  Fam Cancer       Date:  2011-12       Impact factor: 2.375

3.  Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families.

Authors:  G Isidro; I Veiga; P Matos; S Almeida; S Bizarro; B Marshall; M Baptista; J Leite; F Regateiro; J Soares; S Castedo; M G Boavida
Journal:  Hum Mutat       Date:  2000-01       Impact factor: 4.878

4.  Hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay.

Authors:  C Sarroca; N Alfano; G T Bendin; A Della Valle; A Dominguez; R Quadrelli; A Vaglio; B Mechoso; S T Tinley; A E Harty; J F Lynch; B A Franklin; P Kristo; T C Smyrk; P Peltomäki; H T Lynch
Journal:  Dis Colon Rectum       Date:  2000-03       Impact factor: 4.585

5.  Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer.

Authors:  C Sarroca; A Della Valle; R Fresco; E Renkonen; P Peltömaki; Ht Lynch
Journal:  Clin Genet       Date:  2005-07       Impact factor: 4.438

6.  [Familial colonic cancer].

Authors:  C Sarroca; R Quadrelli; R Praderi
Journal:  Nouv Presse Med       Date:  1978-04-22

7.  Evaluation of MLH1 I219V polymorphism in unrelated South American individuals suspected of having Lynch syndrome.

Authors:  Mev Dominguez Valentin; Felipe Carneiro Da Silva; Erika Maria Monteiro Santos; Sabrina Daniela Da Silva; Fabio De Oliveira Ferreira; Samuel Aguiar Junior; Israel Gomy; Carlos Vaccaro; Maria Ana Redal; Adriana Della Valle; Carlos Sarroca; Lene Juel Rasmussen; Dirce Maria Carraro; Benedito Mauro Rossi
Journal:  Anticancer Res       Date:  2012-10       Impact factor: 2.480

8.  [Hereditary nonpolyposis colorectal cancer: surgical treatment and pedigree analysis].

Authors:  Demian A Fullerton; Francisco López; Alejandro Rahmer
Journal:  Rev Med Chil       Date:  2004-05       Impact factor: 0.553

9.  [Lynch syndrome: selection of families by microsatellite instability and immunohistochemistry].

Authors:  Ana María Wielandt; Alejandro J Zárate; Claudia Hurtado; Paulina Orellana; Karin Alvarez; Eliana Pinto; Luis Contreras; Alejandro Corvalán; Udo Kronberg; Francisco López-Köstner
Journal:  Rev Med Chil       Date:  2012-09       Impact factor: 0.553

10.  Novel MLH1 duplication identified in Colombian families with Lynch syndrome.

Authors:  Virginia Alonso-Espinaco; María Dolores Giráldez; Carlos Trujillo; Heleen van der Klift; Jenifer Muñoz; Francesc Balaguer; Teresa Ocaña; Irene Madrigal; Angela M Jones; M Magdalena Echeverry; Alejandro Velez; Ian Tomlinson; Montserrat Milà; Juul Wijnen; Luis Carvajal-Carmona; Antoni Castells; Sergi Castellví-Bel
Journal:  Genet Med       Date:  2011-02       Impact factor: 8.822

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  4 in total

1.  MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.

Authors:  Mev Dominguez-Valentin; Patrik Wernhoff; Andrea R Cajal; Pablo G Kalfayan; Tamara A Piñero; Maria L Gonzalez; Alejandra Ferro; Ines Sammartino; Natalia S Causada Calo; Carlos A Vaccaro
Journal:  Front Oncol       Date:  2016-08-24       Impact factor: 6.244

2.  A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Authors:  Benedito Mauro Rossi; Edenir Inêz Palmero; Francisco López-Kostner; Carlos Sarroca; Carlos Alberto Vaccaro; Florencia Spirandelli; Patricia Ashton-Prolla; Yenni Rodriguez; Henrique de Campos Reis Galvão; Rui Manuel Reis; André Escremim de Paula; Luis Gustavo Capochin Romagnolo; Karin Alvarez; Adriana Della Valle; Florencia Neffa; Pablo German Kalfayan; Enrique Spirandelli; Sergio Chialina; Melva Gutiérrez Angulo; Maria Del Carmen Castro-Mujica; Julio Sanchez de Monte; Richard Quispe; Sabrina Daniela da Silva; Norma Teresa Rossi; Claudia Barletta-Carrillo; Susana Revollo; Ximena Taborga; L Lena Morillas; Hélène Tubeuf; Erika Maria Monteiro-Santos; Tamara Alejandra Piñero; Constantino Dominguez-Barrera; Patrik Wernhoff; Alexandra Martins; Eivind Hovig; Pål Møller; Mev Dominguez-Valentin
Journal:  BMC Cancer       Date:  2017-09-05       Impact factor: 4.430

3.  A Previously Unrecognized Molecular Landscape of Lynch Syndrome in the Mexican Population.

Authors:  Alejandra Padua-Bracho; José A Velázquez-Aragón; Verónica Fragoso-Ontiveros; Paulina María Nuñez-Martínez; María de la Luz Mejía Aguayo; Yuliana Sánchez-Contreras; Miguel Angel Ramirez-Otero; Marcela Angélica De la Fuente-Hernández; Silvia Vidal-Millán; Talia Wegman-Ostrosky; Abraham Pedroza-Torres; Cristian Arriaga-Canon; Luis A Herrera-Montalvo; Rosa Maria Alvarez-Gómez
Journal:  Int J Mol Sci       Date:  2022-09-30       Impact factor: 6.208

Review 4.  From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America.

Authors:  Carlos Alberto Vaccaro; Francisco López-Kostner; Della Valle Adriana; Edenir Inez Palmero; Benedito Mauro Rossi; Marina Antelo; Angela Solano; Dirce Maria Carraro; Nora Manoukian Forones; Mabel Bohorquez; Leonardo S Lino-Silva; Jose Buleje; Florencia Spirandelli; Kiyoko Abe-Sandes; Ivana Nascimento; Yasser Sullcahuaman; Carlos Sarroca; Maria Laura Gonzalez; Alberto Ignacio Herrando; Karin Alvarez; Florencia Neffa; Henrique Camposreis Galvão; Patricia Esperon; Mariano Golubicki; Daniel Cisterna; Florencia C Cardoso; Giovana Tardin Torrezan; Samuel Aguiar Junior; Célia Aparecida Marques Pimenta; Maria Nirvana da Cruz Formiga; Erika Santos; Caroline U Sá; Edite P Oliveira; Ricardo Fujita; Enrique Spirandelli; Geiner Jimenez; Rodrigo Santa Cruz Guindalini; Renata Gondim Meira Velame de Azevedo; Larissa Souza Mario Bueno; Sonia Tereza Dos Santos Nogueira; Mariela Torres Loarte; Jorge Padron; Maria Del Carmen Castro-Mujica; Julio Sanchez Del Monte; Carmelo Caballero; Carlos Mario Muñeton Peña; Joseph Pinto; Claudia Barletta-Carrillo; Gutiérrez Angulo Melva; Tamara Piñero; Paola Montenegro Beltran; Patricia Ashton-Prolla; Yenni Rodriguez; Richard Quispe; Norma Teresa Rossi; Claudia Martin; Sergio Chialina; Pablo German Kalfayan; Juan Carlos Bazo-Alvarez; Alcides Recalde Cañete; Constantino Dominguez-Barrera; Lina Nuñez; Sabrina Daniela Da Silva; Yesilda Balavarca; Patrik Wernhoff; John-Paul Plazzer; Pål Møller; Eivind Hovig; Mev Dominguez-Valentin
Journal:  Int J Cancer       Date:  2018-12-05       Impact factor: 7.396

  4 in total

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