Literature DB >> 34623598

When guidelines face reality - Lynch syndrome screening in the setting of public health system in a developing country.

Vanessa Nascimento Kozak1,2,3, Enilze Maria de Souza Fonseca Ribeiro4,5, Milena Massumi Kozonoe6, Sergio Ossamu Ioshii6, Jose Claudio Casali da Rocha3,7.   

Abstract

Lynch syndrome (LS) is the most common cause of hereditary colorectal cancer (CRC); however, it is still underrecognized and underdiagnosed. While international guidelines gravitate towards universal screening, the underuse of screening methods has been reported in real-world scenarios. This study aims to evaluate screening for LS among patients diagnosed with CRC in a public cancer center in Brazil and evaluate access to genetic counseling and testing for abnormal screens. For that purpose, all patients with CRC registered in our institution from July 2012 to December 2018 had their charts reviewed. Demographic and clinical characteristics were noted, as well as immunohistochemistry and microsatellite instability analysis results, when available. After applying exclusion criteria, a total of 1234 charts were reviewed. Among these, 257 patients were screened for LS, making up a 20.8% screening rate; when considering Jerusalem criteria, screening rate was 24.5%; for Bethesda criteria, it was 35.1%. Almost 80% of patients fulfilling Amsterdam criteria I/II were screened. There were 64 abnormal screens, from which 40 (62.5%) underwent genetic counseling and 12 (18.7%) underwent genetic testing. We concluded that overall screening rates for LS among CRC patients in a public cancer center in Brazil are low, and still very guided by stringent clinical criteria. Referral to genetic counseling and access to testing is limited, calling the whole process into question. Public policies aiming to raise awareness on hereditary cancer and include genetic testing in the public health system could help improve this scenario.
© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Entities:  

Keywords:  Developing countries; Lynch syndrome; Public health system; Screening rates; Underdiagnosis

Year:  2021        PMID: 34623598      PMCID: PMC8799815          DOI: 10.1007/s12687-021-00549-w

Source DB:  PubMed          Journal:  J Community Genet        ISSN: 1868-310X


  35 in total

1.  Urgent improvements needed to diagnose and manage Lynch syndrome.

Authors:  Kevin J Monahan; Deborah Alsina; Simon Bach; James Buchanan; John Burn; Sue Clark; Peter Dawson; Bianca De Souza; Farhat V N Din; Sunil Dolwani; Malcolm G Dunlop; James East; D Gareth Evans; Nicola Fearnhead; Ian M Frayling; Rob Glynne-Jones; James Hill; Richard Houlston; Mark Hull; Fiona Lalloo; Andrew Latchford; Suzy Lishman; Phil Quirke; Colin Rees; Matt Rutter; Peter Sasieni; Asha Senapati; Doug Speake; Huw Thomas; Ian Tomlinson
Journal:  BMJ       Date:  2017-03-20

Review 2.  Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer.

Authors:  Francis M Giardiello; John I Allen; Jennifer E Axilbund; C Richard Boland; Carol A Burke; Randall W Burt; James M Church; Jason A Dominitz; David A Johnson; Tonya Kaltenbach; Theodore R Levin; David A Lieberman; Douglas J Robertson; Sapna Syngal; Douglas K Rex
Journal:  Gastroenterology       Date:  2014-08       Impact factor: 22.682

3.  Universal screening of both endometrial and colon cancers increases the detection of Lynch syndrome.

Authors:  Tomer Adar; Linda H Rodgers; Kristen M Shannon; Makoto Yoshida; Tianle Ma; Anthony Mattia; Gregory Y Lauwers; Anthony J Iafrate; Nicole M Hartford; Esther Oliva; Daniel C Chung
Journal:  Cancer       Date:  2018-05-11       Impact factor: 6.860

4.  Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center.

Authors:  Brandie Heald; Thomas Plesec; Xiuli Liu; Rish Pai; Deepa Patil; Jessica Moline; Richard R Sharp; Carol A Burke; Matthew F Kalady; James Church; Charis Eng
Journal:  J Clin Oncol       Date:  2013-02-11       Impact factor: 44.544

5.  Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives.

Authors: 
Journal:  Genet Med       Date:  2009-01       Impact factor: 8.822

6.  Overcoming the challenges associated with universal screening for Lynch syndrome in colorectal and endometrial cancer.

Authors:  Patrick R Benusiglio; Florence Coulet; Alexandra Lefebvre; Alex Duval; Gregory Nuel
Journal:  Genet Med       Date:  2020-05-15       Impact factor: 8.822

7.  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

8.  Universal tumor screening for Lynch syndrome: health-care providers' perspectives.

Authors:  Yvonne Bombard; Linda Rozmovits; Anne Sorvari; Corinne Daly; June C Carroll; Erin Kennedy; Linda Rabeneck; Nancy N Baxter
Journal:  Genet Med       Date:  2016-10-06       Impact factor: 8.822

9.  Implementation of routine screening for Lynch syndrome in university and safety-net health system settings: successes and challenges.

Authors:  Evelyn Marquez; Zhuo Geng; Sarah Pass; Pia Summerour; Linda Robinson; Venetia Sarode; Samir Gupta
Journal:  Genet Med       Date:  2013-04-18       Impact factor: 8.822

Review 10.  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

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