The identification of Lynch syndrome in Congolese colorectal cancer patients
| Autor: | Isabelle Soubeyran, Henriette Poaty, J. F. Peko, Charles Gombé Mbalawa, Chandra Aba Gandzion, Deby Gassaye, Jean Bernard Nkoua Bon |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Adult
Male 0301 basic medicine congenital hereditary and neonatal diseases and abnormalities Cancer Research medicine.medical_specialty Pathology Time Factors Colorectal cancer Pedigree chart DNA Mismatch Repair 03 medical and health sciences 0302 clinical medicine Risk Factors Internal medicine Confidence Intervals Prevalence medicine Humans Radiology Nuclear Medicine and imaging Family history neoplasms Immunodeficiency Mismatch Repair Endonuclease PMS2 business.industry nutritional and metabolic diseases Hematology General Medicine Middle Aged Epithelial Cell Adhesion Molecule medicine.disease Colorectal Neoplasms Hereditary Nonpolyposis digestive system diseases Confidence interval Lynch syndrome Pedigree DNA-Binding Proteins Cross-Sectional Studies MutS Homolog 2 Protein 030104 developmental biology Congo Oncology MSH2 030220 oncology & carcinogenesis Female Colorectal Neoplasms MutL Protein Homolog 1 business Cohort study |
| Zdroj: | Bulletin du Cancer. 104:831-839 |
| ISSN: | 0007-4551 |
| DOI: | 10.1016/j.bulcan.2017.08.005 |
| Popis: | Summary Background We aimed to investigate the prevalence of Lynch syndrome as one of hereditary causes of colorectal cancer (CRC) among young Congolese individuals affected by the CRC, and to define methods for diagnosis in Congo Brazzaville. Methods We conducted a transversal cohort study of 34 patients having a CRC with a family history for a period of eight years. They were selected among 89 CRCs of any type from the Bethesda guidelines criteria combined with pedigrees. Mismatch repair (MMR) genes alterations were researched by immunohistochemistry (IHC). Results We identified with the Bethesda criteria a total of 38.2% (34/89) patients having familial CRC with a confidence interval (CI) of 95% = [0.34–0.41]. Only 14.7% (5/34) 95% CI = [0.34–2.32] patients showed MMR immunodeficiency involving firstly MLH1 protein then MSH2 protein. These data account for 5.6% (5/89) 95% CI = [0.15–0.33] of patients affected by Lynch syndrome with an earlier median age of 35 years (range 20 to 47 years). Conclusion The prevalence of Lynch syndrome found in Brazzaville is comparable to that is found in northern countries. The combined Bethesda guidelines, pedigree and IHC is an accessible and good alternative method for the positive diagnosis of Lynch syndrome in current practice in Congo. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|