دورية أكاديمية
Somatic targeted mutation profiling of colorectal cancer precursor lesions.
| العنوان: | Somatic targeted mutation profiling of colorectal cancer precursor lesions. |
|---|---|
| المؤلفون: | Dos Santos W; Molecular Oncology Research Center, Barretos Cancer Hospital, Rua Antenor Duarte Vilela, 1331, Barretos, SP, 14784-400, Brazil., Dos Reis MB; Molecular Oncology Research Center, Barretos Cancer Hospital, Rua Antenor Duarte Vilela, 1331, Barretos, SP, 14784-400, Brazil., Porto J; Molecular Oncology Research Center, Barretos Cancer Hospital, Rua Antenor Duarte Vilela, 1331, Barretos, SP, 14784-400, Brazil., de Carvalho AC; Molecular Oncology Research Center, Barretos Cancer Hospital, Rua Antenor Duarte Vilela, 1331, Barretos, SP, 14784-400, Brazil., Matsushita M; Department of Pathology, Barretos Cancer Hospital, Barretos, Brazil., Oliveira G; Research and Education Institute, Barretos Cancer Hospital, Barretos, Brazil., Syrjänen K; Molecular Oncology Research Center, Barretos Cancer Hospital, Rua Antenor Duarte Vilela, 1331, Barretos, SP, 14784-400, Brazil.; SMW Consultants Ltd, Kaarina, Finland.; Department of Clinical Research, Biohit Oyj, Helsinki, Finland., Reis RM; Molecular Oncology Research Center, Barretos Cancer Hospital, Rua Antenor Duarte Vilela, 1331, Barretos, SP, 14784-400, Brazil.; Life and Health Sciences Research Institute (ICVS), Medical School, University of Minho, 4710-057, Braga, Portugal.; ICVS/3B's-PT Government Associate Laboratory, 4710-057, Braga, Portugal., Guimarães DP; Molecular Oncology Research Center, Barretos Cancer Hospital, Rua Antenor Duarte Vilela, 1331, Barretos, SP, 14784-400, Brazil. guimaraes.dp@gmail.com.; Department of Endoscopy, Barretos Cancer Hospital, Barretos, Brazil. guimaraes.dp@gmail.com. |
| المصدر: | BMC medical genomics [BMC Med Genomics] 2022 Jun 28; Vol. 15 (1), pp. 143. Date of Electronic Publication: 2022 Jun 28. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: London : BioMed Central |
| مواضيع طبية MeSH: | Adenoma*/genetics , Adenoma*/pathology , Colonic Polyps*/genetics , Colonic Polyps*/pathology , Colorectal Neoplasms*/genetics , Colorectal Neoplasms*/pathology, Humans ; Mutation ; Proto-Oncogene Proteins B-raf/genetics ; Proto-Oncogene Proteins p21(ras)/genetics |
| مستخلص: | Background: Most colorectal cancers (CRC) arise from precursor lesions. This study aimed to characterize the mutation profile of colorectal cancer precursor lesions in a Brazilian population. Methods: In total, 90 formalin-fixed paraffin-embedded colorectal precursor lesions, including 67 adenomas, 7 sessile serrated lesions, and 16 hyperplastic polyps, were analyzed by next-generation sequencing using a panel of 50 oncogenes and tumor suppressor genes. The genetic ancestry of the patients was estimated. Results: Somatic driver mutations were identified in 66.7% of cases, including alterations in APC (32.2%), TP53 (20.0%), KRAS (18.9%), BRAF (13.3%) and EGFR (7.8%). Adenomas displayed a higher number of mutations, mainly in APC, compared to serrated polyps (73.1% vs. 47.8%, p = 0.026). Advanced adenomas had a significantly higher frequency of mutation in KRAS and a high overall mutation rate than early adenomas (92.9% vs. 59%, p = 0.006). A high degree of ancestry admixture was observed in the population studied, with a predominance of European components (mean of 73%) followed by African (mean of 11.3%). No association between genetic ancestry and type of lesions was found. The mutation profile of Brazilian colorectal precursor lesions exhibits alteration in APC, KRAS, TP53, and BRAF at different frequencies according to lesion type. Conclusions: These results bestow the knowledge of CRC's biologic history and support the potential of these biomarkers for precursor lesions detection in CRC screening of the Brazilian population. (© 2022. The Author(s).) |
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| فهرسة مساهمة: | Keywords: Adenoma; Brazil; Molecular profiling; Mutation; Screening; Serrated polyps |
| المشرفين على المادة: | EC 2.7.11.1 (Proto-Oncogene Proteins B-raf) EC 3.6.5.2 (Proto-Oncogene Proteins p21(ras)) |
| تواريخ الأحداث: | Date Created: 20220627 Date Completed: 20220629 Latest Revision: 20220716 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC9238170 |
| DOI: | 10.1186/s12920-022-01294-w |
| PMID: | 35761395 |
| قاعدة البيانات: | MEDLINE |
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