Molecular Features and Methylation Status in Early Onset (≤40 Years) Colorectal Cancer: A Population Based, Case-Control Study
Colorectal cancer is usually considered a disease of the elderly. However, a small fraction of patients develops colorectal cancer earlier. The aim of our study was to define the frequency of known hereditary colorectal syndromes and to characterise genetic and epigenetic features of early nonheredi...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2015-01-01
|
| Series: | Gastroenterology Research and Practice |
| Online Access: | http://dx.doi.org/10.1155/2015/132190 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832565168362487808 |
|---|---|
| author | Giulia Magnani Daniela Furlan Nora Sahnane Luca Reggiani Bonetti Federica Domati Monica Pedroni |
| author_facet | Giulia Magnani Daniela Furlan Nora Sahnane Luca Reggiani Bonetti Federica Domati Monica Pedroni |
| author_sort | Giulia Magnani |
| collection | DOAJ |
| description | Colorectal cancer is usually considered a disease of the elderly. However, a small fraction of patients develops colorectal cancer earlier. The aim of our study was to define the frequency of known hereditary colorectal syndromes and to characterise genetic and epigenetic features of early nonhereditary tumors. Thirty-three patients ≤40 years with diagnosis of colorectal cancer and 41 patients with disease at >60 years of age were investigated for MSI, Mismatch Repair proteins expression, KRAS and BRAF mutations, hypermethylation, and LINE-1 hypomethylation. Detection of germline mutations was performed in Mismatch Repair, APC and MUTYH genes. Early onset colorectal cancer showed a high incidence of hereditary forms (18%). KRAS mutations were detected in 36% of early nonhereditary tumors. Early onset colorectal cancer disclosed an average number of methylated genes significantly lower when compared to the controls (p=0.02). Finally both of the two groups were highly methylated in ESR1, GATA5, and WT1 genes and were similar for LINE-1 hypomethylation. The genetic make-up of carcinomas differs from young to elderly patients. Early onset tumors showed more frequently a constitutional defective of Mismatch Repair System and a minor number of methylated genes. Hypermethylation of ESR1, GATA5, and WT1 genes suggests possible markers in the earlier diagnosis of colorectal tumorigenesis. |
| format | Article |
| id | doaj-art-630ef7353eb9449599f256372c3e0232 |
| institution | Kabale University |
| issn | 1687-6121 1687-630X |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Gastroenterology Research and Practice |
| spelling | doaj-art-630ef7353eb9449599f256372c3e02322025-02-03T01:08:59ZengWileyGastroenterology Research and Practice1687-61211687-630X2015-01-01201510.1155/2015/132190132190Molecular Features and Methylation Status in Early Onset (≤40 Years) Colorectal Cancer: A Population Based, Case-Control StudyGiulia Magnani0Daniela Furlan1Nora Sahnane2Luca Reggiani Bonetti3Federica Domati4Monica Pedroni5Dipartimento di Medicina Diagnostica, Clinica e Sanità Pubblica, Università di Modena e Reggio Emilia, 41124 Modena, ItalyDipartimento di Chirurgia e Scienze Morfologiche, Università dell’Insubria, 21100 Varese, ItalyDipartimento di Chirurgia e Scienze Morfologiche, Università dell’Insubria, 21100 Varese, ItalyDivisione di Anatomia Patologica, Policlinico di Modena, 41124 Modena, ItalyDipartimento di Medicina Diagnostica, Clinica e Sanità Pubblica, Università di Modena e Reggio Emilia, 41124 Modena, ItalyDipartimento di Medicina Diagnostica, Clinica e Sanità Pubblica, Università di Modena e Reggio Emilia, 41124 Modena, ItalyColorectal cancer is usually considered a disease of the elderly. However, a small fraction of patients develops colorectal cancer earlier. The aim of our study was to define the frequency of known hereditary colorectal syndromes and to characterise genetic and epigenetic features of early nonhereditary tumors. Thirty-three patients ≤40 years with diagnosis of colorectal cancer and 41 patients with disease at >60 years of age were investigated for MSI, Mismatch Repair proteins expression, KRAS and BRAF mutations, hypermethylation, and LINE-1 hypomethylation. Detection of germline mutations was performed in Mismatch Repair, APC and MUTYH genes. Early onset colorectal cancer showed a high incidence of hereditary forms (18%). KRAS mutations were detected in 36% of early nonhereditary tumors. Early onset colorectal cancer disclosed an average number of methylated genes significantly lower when compared to the controls (p=0.02). Finally both of the two groups were highly methylated in ESR1, GATA5, and WT1 genes and were similar for LINE-1 hypomethylation. The genetic make-up of carcinomas differs from young to elderly patients. Early onset tumors showed more frequently a constitutional defective of Mismatch Repair System and a minor number of methylated genes. Hypermethylation of ESR1, GATA5, and WT1 genes suggests possible markers in the earlier diagnosis of colorectal tumorigenesis.http://dx.doi.org/10.1155/2015/132190 |
| spellingShingle | Giulia Magnani Daniela Furlan Nora Sahnane Luca Reggiani Bonetti Federica Domati Monica Pedroni Molecular Features and Methylation Status in Early Onset (≤40 Years) Colorectal Cancer: A Population Based, Case-Control Study Gastroenterology Research and Practice |
| title | Molecular Features and Methylation Status in Early Onset (≤40 Years) Colorectal Cancer: A Population Based, Case-Control Study |
| title_full | Molecular Features and Methylation Status in Early Onset (≤40 Years) Colorectal Cancer: A Population Based, Case-Control Study |
| title_fullStr | Molecular Features and Methylation Status in Early Onset (≤40 Years) Colorectal Cancer: A Population Based, Case-Control Study |
| title_full_unstemmed | Molecular Features and Methylation Status in Early Onset (≤40 Years) Colorectal Cancer: A Population Based, Case-Control Study |
| title_short | Molecular Features and Methylation Status in Early Onset (≤40 Years) Colorectal Cancer: A Population Based, Case-Control Study |
| title_sort | molecular features and methylation status in early onset ≤40 years colorectal cancer a population based case control study |
| url | http://dx.doi.org/10.1155/2015/132190 |
| work_keys_str_mv | AT giuliamagnani molecularfeaturesandmethylationstatusinearlyonset40yearscolorectalcancerapopulationbasedcasecontrolstudy AT danielafurlan molecularfeaturesandmethylationstatusinearlyonset40yearscolorectalcancerapopulationbasedcasecontrolstudy AT norasahnane molecularfeaturesandmethylationstatusinearlyonset40yearscolorectalcancerapopulationbasedcasecontrolstudy AT lucareggianibonetti molecularfeaturesandmethylationstatusinearlyonset40yearscolorectalcancerapopulationbasedcasecontrolstudy AT federicadomati molecularfeaturesandmethylationstatusinearlyonset40yearscolorectalcancerapopulationbasedcasecontrolstudy AT monicapedroni molecularfeaturesandmethylationstatusinearlyonset40yearscolorectalcancerapopulationbasedcasecontrolstudy |