Literature DB >> 29128931

Universal determination of microsatellite instability using BAT26 as a single marker in an Argentine colorectal cancer cohort.

María Laura González1,2, Natalia Causada-Calo3,4,5, Juan Pablo Santino3,6, Mev Dominguez-Valentin7, Fabiana Alejandra Ferro3, Inés Sammartino3, Pablo Germán Kalfayan3, Maria Alicia Verzura3, Tamara Alejandra Piñero3,8, Andrea Romina Cajal3,8, Walter Pavicic3, Carlos Vaccaro3,9.   

Abstract

Microsatellite instability (MSI) is a hallmark tool for Lynch syndrome (LS) screening and a prognostic marker for sporadic colorectal cancer (CRC). In regions with limited resources and scarce CRC molecular characterization as South America, the implementation of universal MSI screening is under debate for both its purposes. We sought to estimate the frequency of BAT26 in colorectal adenocarcinomas and to determine associated clinical and histological features. Consecutive patients from a CRC registry were included. BAT26 determination was performed in all cases; if instability was found, immunohistochemistry (IHC) and BRAF mutation analyses were done, as appropriate. Differences were assessed by chi-squared or Fisher's exact test, or by T test or Mann-Whitney. Multiple logistic regression was used to identify factors independently associated with BAT26-unstable tumors. We included 155 patients; mean age was 65.6 (SD 14.4) and 56.1% were male. The frequency of BAT26-unstable tumors was 22% (95% CI 15.7-29.3). Factors independently associated with BAT26-unstable tumors were right colon localization (OR 3.4, 95% CI 1.3-8.7), histological MSI features (OR 5.1, 95% CI 1.9-13.6) and Amsterdam criteria (OR 23.2, 95% CI 1.9-286.7). IHC was altered in 85.3% BAT26-unstable tumors and 70.6% lacked MLH1 expression; 47.8% of these harbored BRAF V600E mutation. We provide evidence to link the frequency of BAT26 to an increased diagnostic yield (up to 1.4-folds) of suspected LS cases in comparison to the revised Bethesda guidelines alone. In regions with limited resources, clinical and histological features associated with BAT26-unstable status could be useful to direct MSI screening in sporadic CRCs and may help guide clinical care and future research.

Entities:  

Keywords:  BAT26; Colorectal cancer; Lynch syndrome; Microsatellite instability; Universal screening

Mesh:

Substances:

Year:  2018        PMID: 29128931     DOI: 10.1007/s10689-017-0052-4

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


  33 in total

1.  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

2.  Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesis.

Authors:  J Young; L A Simms; K G Biden; C Wynter; V Whitehall; R Karamatic; J George; J Goldblatt; I Walpole; S A Robin; M M Borten; R Stitz; J Searle; D McKeone; L Fraser; D R Purdie; K Podger; R Price; R Buttenshaw; M D Walsh; M Barker; B A Leggett; J R Jass
Journal:  Am J Pathol       Date:  2001-12       Impact factor: 4.307

3.  The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas.

Authors:  J M Cunningham; C Y Kim; E R Christensen; D J Tester; Y Parc; L J Burgart; K C Halling; S K McDonnell; D J Schaid; C Walsh Vockley; V Kubly; H Nelson; V V Michels; S N Thibodeau
Journal:  Am J Hum Genet       Date:  2001-08-24       Impact factor: 11.025

4.  BAT-26, an indicator of the replication error phenotype in colorectal cancers and cell lines.

Authors:  J M Hoang; P H Cottu; B Thuille; R J Salmon; G Thomas; R Hamelin
Journal:  Cancer Res       Date:  1997-01-15       Impact factor: 12.701

5.  Patient and tumor characteristics of colon cancers with microsatellite instability: a population-based study.

Authors:  A Chao; F Gilliland; C Willman; N Joste; I M Chen; N Stone; J Ruschulte; D Viswanatha; P Duncan; R Ming; R Hoffman; E Foucar; C Key
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2000-06       Impact factor: 4.254

6.  Mononucleotide repeats BAT-26 and BAT-25 accurately detect MSI-H tumors and predict tumor content: implications for population screening.

Authors:  Caroline Brennetot; Olivier Buhard; Florence Jourdan; Jean-François Flejou; Alex Duval; Richard Hamelin
Journal:  Int J Cancer       Date:  2005-01-20       Impact factor: 7.396

7.  Burden of colorectal cancer in Central and South America.

Authors:  Monica S Sierra; David Forman
Journal:  Cancer Epidemiol       Date:  2016-09       Impact factor: 2.984

Review 8.  Familial colon cancer syndromes: an update of a rapidly evolving field.

Authors:  Swati G Patel; Dennis J Ahnen
Journal:  Curr Gastroenterol Rep       Date:  2012-10

9.  Universal Versus Targeted Screening for Lynch Syndrome: Comparing Ascertainment and Costs Based on Clinical Experience.

Authors:  Mujde Z Erten; Luca P Fernandez; Hank K Ng; Wendy C McKinnon; Brandie Heald; Christopher J Koliba; Marc S Greenblatt
Journal:  Dig Dis Sci       Date:  2016-07-06       Impact factor: 3.199

10.  Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012.

Authors:  Jacques Ferlay; Isabelle Soerjomataram; Rajesh Dikshit; Sultan Eser; Colin Mathers; Marise Rebelo; Donald Maxwell Parkin; David Forman; Freddie Bray
Journal:  Int J Cancer       Date:  2014-10-09       Impact factor: 7.396

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  3 in total

1.  CAGm: a repository of germline microsatellite variations in the 1000 genomes project.

Authors:  Nicholas Kinney; Kyle Titus-Glover; Jonathan D Wren; Robin T Varghese; Pawel Michalak; Han Liao; Ramu Anandakrishnan; Arichanah Pulenthiran; Lin Kang; Harold R Garner
Journal:  Nucleic Acids Res       Date:  2019-01-08       Impact factor: 16.971

2.  Prevalence of the BRAF p.v600e variant in patients with colorectal cancer from Mexico and its estimated frequency in Latin American and Caribbean populations.

Authors:  Jesús Arturo Hernández-Sandoval; Melva Gutiérrez-Angulo; María Teresa Magaña-Torres; Carlos Rogelio Alvizo-Rodríguez; Helen Haydee Fernanda Ramírez-Plascencia; Beatriz Armida Flores-López; Jesús Alonso Valenzuela-Pérez; Jorge Peregrina-Sandoval; José Miguel Moreno-Ortiz; Mev Domínguez-Valentín; María de la Luz Ayala-Madrigal
Journal:  J Investig Med       Date:  2020-03-16       Impact factor: 2.895

Review 3.  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

  3 in total

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