When guidelines face reality — Lynch syndrome screening in the setting of public health system in a developing country View Full Text


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Article Info

DATE

2021-10-08

AUTHORS

Vanessa Nascimento Kozak, Enilze Maria de Souza Fonseca Ribeiro, Milena Massumi Kozonoe, Sergio Ossamu Ioshii, Jose Claudio Casali da Rocha

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. More... »

PAGES

1-11

References to SciGraph publications

  • 2018-10-22. A framework to build capacity for a reflex-testing program for Lynch syndrome in GENETICS IN MEDICINE
  • 2016-03-03. Cost-effectiveness of routine screening for Lynch syndrome in colorectal cancer patients up to 70 years of age in GENETICS IN MEDICINE
  • 2020-05-15. Overcoming the challenges associated with universal screening for Lynch syndrome in colorectal and endometrial cancer in GENETICS IN MEDICINE
  • 2015-11-24. Universal Screening of Colorectal Cancers for Lynch Syndrome: Challenges and Opportunities in DIGESTIVE DISEASES AND SCIENCES
  • 2015-01-20. Population-Based Lynch Syndrome Screening by Microsatellite Instability in Patients ≤50: Prevalence, Testing Determinants, and Result Availability Prior to Colon Surgery in THE AMERICAN JOURNAL OF GASTROENTEROLOGY
  • 2017-09-05. A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America in BMC CANCER
  • 2013-06-13. Towards a vaccine to prevent cancer in Lynch syndrome patients in FAMILIAL CANCER
  • 2018-08-14. A cancer vaccine approach for personalized treatment of Lynch Syndrome in SCIENTIFIC REPORTS
  • 2013-04-18. Implementation of routine screening for Lynch syndrome in university and safety-net health system settings: successes and challenges in GENETICS IN MEDICINE
  • 2016-10-06. Universal tumor screening for Lynch syndrome: health-care providers’ perspectives in GENETICS IN MEDICINE
  • 2018-08-03. Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: a systematic review in GENETICS IN MEDICINE
  • 2017-09-18. Hereditary gynaecologic cancers in Nepal: a proposed model of care to serve high risk populations in developing countries in HEREDITARY CANCER IN CLINICAL PRACTICE
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    DIMENSIONS

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    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/34623598


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