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3 results on '"ERCC1 polymorphism"'

2. ERCC1 C8092A (rs3212986) polymorphism as a predictive marker in esophageal cancer patients treated with cisplatin/5-FU-based neoadjuvant therapy.

Author

Rumiato, Enrica, Cavallin, Francesco, Boldrin, Elisa, Cagol, Matteo, Alfieri, Rita, Basso, Daniela, Castoro, Carlo, Ancona, Ermanno, Amadori, Alberto, Ruol, Alberto, and Saggioro, Daniela

Abstract

At present, no consensus exists on the beneficial effect of preoperative cisplatin/5-fluorouracil (5-FU)-based chemotherapy versus primary surgery in the management of patients with esophageal cancer. The aim of this study was to evaluate the impact of some relevant genetic polymorphisms, within drug-related and DNA repair genes, on the clinical outcome of esophageal cancer patients subjected to cisplatin/5-FU-based neoadjuvant treatment.DNA from 143 esophageal cancer patients, 63 receiving neoadjuvant therapy and 80 receiving primary surgery, was analyzed for the following polymorphisms: the GSTM1 null, GSTT1 null, and GSTP1 Ile105Val (rs16953) in glutathione S-transferase (GST) family, 2 in thymidylate synthase (TS) gene, and the ERCC1 Asn118Asn (rs11615), ERCC1 C8092A (rs3212986), XPD/ERCC2 Asp312Asn (rs1799793), and XPD/ERCC2 Lys751Gln (rs13181) of the nucleotide excision repair pathway.We found that the ERCC1 rs3212986, although not associated with therapeutic response, is an independent predictive marker of better outcome in a cisplatin/5-FU-based neoadjuvant setting (hazard ratio: 0.38, 95% confidence interval: 0.2-0.73, P=0.008). In contrast, no association with clinical outcome was observed for this polymorphism in the primary surgery group.Our study indicates the ERCC1 rs3212986 as a predictive marker in the cisplatin/5-FU-based neoadjuvant setting, and also suggests its use as a marker to select the appropriate therapeutic approach in esophageal cancer patients. [ABSTRACT FROM AUTHOR]

Published
2013
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3. ERCC1 C8092A (rs3212986) polymorphism as a predictive marker in esophageal cancer patients treated with cisplatin/5-FU-based neoadjuvant therapy

Author

Francesco Cavallin, Carlo Castoro, Ermanno Ancona, Daniela Basso, Daniela Saggioro, Alberto Ruol, Rita Alfieri, Enrica Rumiato, Alberto Amadori, Elisa Boldrin, and Matteo Cagol

Subjects
Oncology, Adult, Genetic Markers, Male, medicine.medical_specialty, Esophageal Neoplasms, Genotype, medicine.medical_treatment, Esophageal cancer, Adenocarcinoma, Internal medicine, Genetics, Carcinoma, Medicine, Humans, 5-fluorouracil, Molecular Targeted Therapy, General Pharmacology, Toxicology and Pharmaceutics, ERCC1 polymorphism, Molecular Biology, Genetics (clinical), Neoadjuvant therapy, Aged, Glutathione Transferase, Xeroderma Pigmentosum Group D Protein, Cisplatin, Chemotherapy, Predictive marker, Polymorphism, Genetic, business.industry, Thymidylate Synthase, Middle Aged, medicine.disease, Endonucleases, Neoadjuvant Therapy, DNA-Binding Proteins, Treatment Outcome, Glutathione S-Transferase pi, Carcinoma, Squamous Cell, Molecular Medicine, Female, Fluorouracil, ERCC1, business, medicine.drug
Abstract

At present, no consensus exists on the beneficial effect of preoperative cisplatin/5-fluorouracil (5-FU)-based chemotherapy versus primary surgery in the management of patients with esophageal cancer. The aim of this study was to evaluate the impact of some relevant genetic polymorphisms, within drug-related and DNA repair genes, on the clinical outcome of esophageal cancer patients subjected to cisplatin/5-FU-based neoadjuvant treatment.DNA from 143 esophageal cancer patients, 63 receiving neoadjuvant therapy and 80 receiving primary surgery, was analyzed for the following polymorphisms: the GSTM1 null, GSTT1 null, and GSTP1 Ile105Val (rs16953) in glutathione S-transferase (GST) family, 2 in thymidylate synthase (TS) gene, and the ERCC1 Asn118Asn (rs11615), ERCC1 C8092A (rs3212986), XPD/ERCC2 Asp312Asn (rs1799793), and XPD/ERCC2 Lys751Gln (rs13181) of the nucleotide excision repair pathway.We found that the ERCC1 rs3212986, although not associated with therapeutic response, is an independent predictive marker of better outcome in a cisplatin/5-FU-based neoadjuvant setting (hazard ratio: 0.38, 95% confidence interval: 0.2-0.73, P=0.008). In contrast, no association with clinical outcome was observed for this polymorphism in the primary surgery group.Our study indicates the ERCC1 rs3212986 as a predictive marker in the cisplatin/5-FU-based neoadjuvant setting, and also suggests its use as a marker to select the appropriate therapeutic approach in esophageal cancer patients.

Published
2013

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