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.
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.
Authors: J M Risk; E A Field; J K Field; J Whittaker; A Fryer; A Ellis; J M Shaw; P S Friedmann; D T Bishop; J Bodmer Journal: Nat Genet Date: 1994-12 Impact factor: 38.330
Authors: D P Kelsell; J M Risk; I M Leigh; H P Stevens; A Ellis; H C Hennies; A Reis; J Weissenbach; D T Bishop; N K Spurr; J K Field Journal: Hum Mol Genet Date: 1996-06 Impact factor: 6.150
Authors: A Ellis; J K Field; E A Field; P S Friedmann; A Fryer; P Howard; I M Leigh; J Risk; J M Shaw; J Whittaker Journal: Eur J Cancer B Oral Oncol Date: 1994
Authors: J M Risk; C Ruhrberg; H Hennies; H S Mills; T Di Colandrea; K E Evans; A Ellis; F M Watt; D T Bishop; N K Spurr; H P Stevens; I M Leigh; A Reis; D P Kelsell; J K Field Journal: Genomics Date: 1999-07-15 Impact factor: 5.736
Authors: M von Brevern; M C Hollstein; J M Risk; J Garde; W P Bennett; C C Harris; K R Muehlbauer; J K Field Journal: Oncogene Date: 1998-10-22 Impact factor: 9.867
Authors: Tatsha C Bholah; Vidushi S Neergheen-Bhujun; Nikolas J Hodges; Sabrina D Dyall; Theeshan Bahorun Journal: Biomed Res Int Date: 2015-08-03 Impact factor: 3.411