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Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country
Molecular pathology services for colorectal cancer (CRC) in Sudan represent a significant unmet clinical need. In a retrospective cohort study involving 50 patients diagnosed with CRC at three major medical settings in Sudan, we aimed to outline the introduction of a molecular genetic service for CR...
Autores principales: | , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9243080/ https://www.ncbi.nlm.nih.gov/pubmed/35768447 http://dx.doi.org/10.1038/s41598-022-14644-6 |
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author | Elsayed, Inas Geraghty, Robert Mekki, Salwa O. Mohamedani, Ahmed A. Ahern, Susan Salim, Omer E. H. Khalil, Balgis B. M. Abdelrahim, Sawsan Suliman, Suliman H. Elhassan, Moawia M. A. Salah, Salah O. Salih, Mohamed E. Widatalla, Abubakr H. Abdelhamed, Osman S. Wang, Xiaosheng Ryan, Éanna J. Winter, Des Bakhiet, Salih Sheahan, Kieran |
author_facet | Elsayed, Inas Geraghty, Robert Mekki, Salwa O. Mohamedani, Ahmed A. Ahern, Susan Salim, Omer E. H. Khalil, Balgis B. M. Abdelrahim, Sawsan Suliman, Suliman H. Elhassan, Moawia M. A. Salah, Salah O. Salih, Mohamed E. Widatalla, Abubakr H. Abdelhamed, Osman S. Wang, Xiaosheng Ryan, Éanna J. Winter, Des Bakhiet, Salih Sheahan, Kieran |
author_sort | Elsayed, Inas |
collection | PubMed |
description | Molecular pathology services for colorectal cancer (CRC) in Sudan represent a significant unmet clinical need. In a retrospective cohort study involving 50 patients diagnosed with CRC at three major medical settings in Sudan, we aimed to outline the introduction of a molecular genetic service for CRC in Sudan, and to explore the CRC molecular features and their relationship to patient survival and clinicopathological characteristics. Mismatch repair (MMR) and BRAF (V600E) mutation status were determined by immunohistochemistry. A mismatch repair deficient (dMMR) subtype was demonstrated in 16% of cases, and a presumptive Lynch Syndrome (LS) diagnosis was made in up to 14% of patients. dMMR CRC in Sudan is characterized by younger age at diagnosis and a higher incidence of right-sided tumours. We report a high mortality in Sudanese CRC patients, which correlates with advanced disease stage, and MMR status. Routine MMR immunohistochemistry (with sequential BRAF mutation analysis) is a feasible CRC prognostic and predictive molecular biomarker, as well as a screening tool for LS in low-middle-income countries (LMICs). |
format | Online Article Text |
id | pubmed-9243080 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-92430802022-07-01 Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country Elsayed, Inas Geraghty, Robert Mekki, Salwa O. Mohamedani, Ahmed A. Ahern, Susan Salim, Omer E. H. Khalil, Balgis B. M. Abdelrahim, Sawsan Suliman, Suliman H. Elhassan, Moawia M. A. Salah, Salah O. Salih, Mohamed E. Widatalla, Abubakr H. Abdelhamed, Osman S. Wang, Xiaosheng Ryan, Éanna J. Winter, Des Bakhiet, Salih Sheahan, Kieran Sci Rep Article Molecular pathology services for colorectal cancer (CRC) in Sudan represent a significant unmet clinical need. In a retrospective cohort study involving 50 patients diagnosed with CRC at three major medical settings in Sudan, we aimed to outline the introduction of a molecular genetic service for CRC in Sudan, and to explore the CRC molecular features and their relationship to patient survival and clinicopathological characteristics. Mismatch repair (MMR) and BRAF (V600E) mutation status were determined by immunohistochemistry. A mismatch repair deficient (dMMR) subtype was demonstrated in 16% of cases, and a presumptive Lynch Syndrome (LS) diagnosis was made in up to 14% of patients. dMMR CRC in Sudan is characterized by younger age at diagnosis and a higher incidence of right-sided tumours. We report a high mortality in Sudanese CRC patients, which correlates with advanced disease stage, and MMR status. Routine MMR immunohistochemistry (with sequential BRAF mutation analysis) is a feasible CRC prognostic and predictive molecular biomarker, as well as a screening tool for LS in low-middle-income countries (LMICs). Nature Publishing Group UK 2022-06-29 /pmc/articles/PMC9243080/ /pubmed/35768447 http://dx.doi.org/10.1038/s41598-022-14644-6 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Article Elsayed, Inas Geraghty, Robert Mekki, Salwa O. Mohamedani, Ahmed A. Ahern, Susan Salim, Omer E. H. Khalil, Balgis B. M. Abdelrahim, Sawsan Suliman, Suliman H. Elhassan, Moawia M. A. Salah, Salah O. Salih, Mohamed E. Widatalla, Abubakr H. Abdelhamed, Osman S. Wang, Xiaosheng Ryan, Éanna J. Winter, Des Bakhiet, Salih Sheahan, Kieran Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country |
title | Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country |
title_full | Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country |
title_fullStr | Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country |
title_full_unstemmed | Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country |
title_short | Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country |
title_sort | evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9243080/ https://www.ncbi.nlm.nih.gov/pubmed/35768447 http://dx.doi.org/10.1038/s41598-022-14644-6 |
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