Abnormalities of chromosome 17 in oesophageal cancer.
BACKGROUND: Oesophageal cancer is the most common malignancy encountered in South African males, especially in the Eastern Cape and surrounding region of South Africa. There are a number of risk factors and predisposing conditions that have been implicated in the aetiology of the disease. The tylos...
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| Format: | Journal article |
| Language: | English |
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2007
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| _version_ | 1797074717405872128 |
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| author | Moodley, R Reddi, A Chetty, R Naidoo, R |
| author_facet | Moodley, R Reddi, A Chetty, R Naidoo, R |
| author_sort | Moodley, R |
| collection | OXFORD |
| description | BACKGROUND: Oesophageal cancer is the most common malignancy encountered in South African males, especially in the Eastern Cape and surrounding region of South Africa. There are a number of risk factors and predisposing conditions that have been implicated in the aetiology of the disease. The tylosis oesophageal cancer (TOC) gene, localised to a small region on chromosome 17q25, has been shown to be associated with oesophageal squamous cell carcinoma. AIM: To investigate loss of heterozygosity (LOH) and microsatellite instability (MSI) in the region of the TOC locus. METHODS: In 74 oesophagectomy specimens for squamous cell carcinoma, microsatellite PCR was performed using five fluorescently labelled TOC markers. The PCR products were analysed and the data correlated with clinicopathological findings. RESULTS: LOH ranged from 25% to 60%. LOH for the individual markers was as follows: D17S1839, 25%; D17S1864, 36%; D17S1817, 38%; D17S785, 47.8%; and D17S579, 60%. MSI ranged from 4.1% to 6.8% for the five loci in the 17q region. MSI was 4.1% for the markers D17S579, D17S785 and D17S1817. Marker D17S1864 showed MSI to occur in 4 cases (5.4%) and marker D17S1839 in 5 cases (6.8%). CONCLUSION: No significant relationship between genetic and clinical parameters was observed; however, aberrations in poorly differentiated tumours were high for markers D17S579 and D17S1864 (25% and 37%, respectively), indicating that these markers may have an underlying role in the molecular pathogenesis of oesophageal squamous cell carcinoma. In addition, 63% of patients who died showed LOH for the markers D17S579, D17S1864 and D17S1817. |
| first_indexed | 2024-03-06T23:40:12Z |
| format | Journal article |
| id | oxford-uuid:6f0a6280-fefa-4c19-ad9e-c12ee2b79d56 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T23:40:12Z |
| publishDate | 2007 |
| record_format | dspace |
| spelling | oxford-uuid:6f0a6280-fefa-4c19-ad9e-c12ee2b79d562022-03-26T19:28:16ZAbnormalities of chromosome 17 in oesophageal cancer.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:6f0a6280-fefa-4c19-ad9e-c12ee2b79d56EnglishSymplectic Elements at Oxford2007Moodley, RReddi, AChetty, RNaidoo, R BACKGROUND: Oesophageal cancer is the most common malignancy encountered in South African males, especially in the Eastern Cape and surrounding region of South Africa. There are a number of risk factors and predisposing conditions that have been implicated in the aetiology of the disease. The tylosis oesophageal cancer (TOC) gene, localised to a small region on chromosome 17q25, has been shown to be associated with oesophageal squamous cell carcinoma. AIM: To investigate loss of heterozygosity (LOH) and microsatellite instability (MSI) in the region of the TOC locus. METHODS: In 74 oesophagectomy specimens for squamous cell carcinoma, microsatellite PCR was performed using five fluorescently labelled TOC markers. The PCR products were analysed and the data correlated with clinicopathological findings. RESULTS: LOH ranged from 25% to 60%. LOH for the individual markers was as follows: D17S1839, 25%; D17S1864, 36%; D17S1817, 38%; D17S785, 47.8%; and D17S579, 60%. MSI ranged from 4.1% to 6.8% for the five loci in the 17q region. MSI was 4.1% for the markers D17S579, D17S785 and D17S1817. Marker D17S1864 showed MSI to occur in 4 cases (5.4%) and marker D17S1839 in 5 cases (6.8%). CONCLUSION: No significant relationship between genetic and clinical parameters was observed; however, aberrations in poorly differentiated tumours were high for markers D17S579 and D17S1864 (25% and 37%, respectively), indicating that these markers may have an underlying role in the molecular pathogenesis of oesophageal squamous cell carcinoma. In addition, 63% of patients who died showed LOH for the markers D17S579, D17S1864 and D17S1817. |
| spellingShingle | Moodley, R Reddi, A Chetty, R Naidoo, R Abnormalities of chromosome 17 in oesophageal cancer. |
| title | Abnormalities of chromosome 17 in oesophageal cancer. |
| title_full | Abnormalities of chromosome 17 in oesophageal cancer. |
| title_fullStr | Abnormalities of chromosome 17 in oesophageal cancer. |
| title_full_unstemmed | Abnormalities of chromosome 17 in oesophageal cancer. |
| title_short | Abnormalities of chromosome 17 in oesophageal cancer. |
| title_sort | abnormalities of chromosome 17 in oesophageal cancer |
| work_keys_str_mv | AT moodleyr abnormalitiesofchromosome17inoesophagealcancer AT reddia abnormalitiesofchromosome17inoesophagealcancer AT chettyr abnormalitiesofchromosome17inoesophagealcancer AT naidoor abnormalitiesofchromosome17inoesophagealcancer |