title: Genetic risk of subsequent esophageal cancer in lymphoma and breast cancer long-term survival patients: a pilot study.
abstract: The occurrence of a second primary esophageal carcinoma (EC) in long-term cancer survivors may represent a late effect of previous radio-chemotherapeutic treatment. To identify the genetic factors that could increase this risk, we analyzed nine variants within ERCC1, XPD, XRCC1 and XRCC3 DNA repair pathway genes, and GSTP1, TP53 and MDM2 genes in 61 patients who received radio-chemotherapy for a prior lymphoma or breast cancer; 29 of them had a second primary EC. This cohort consists of 22 esophageal squamous cell carcinoma (ESCC) and 7 esophageal adenocarcinoma (EADC) patients. A validation cohort of 154 patients with sporadic EC was also included. The XPD Asp312Asn (rs1799793) was found to be associated with the risk of developing second primary ESCC (P=0.015). The resultant variant was also involved in the onset of sporadic ESCC (P=0.0018). To know in advance who among long-term cancer survivors have an increased risk of EC could lead to a more appropriate follow-up strategy.
authors.affiliation: Immunology and Molecular Oncology, Veneto Institute of Oncology IOV-IRCCS, Padova, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Boldrin
authors.affiliation: Immunology and Molecular Oncology, Veneto Institute of Oncology IOV-IRCCS, Padova, Italy.
authors.forename: E
authors.identifier: 0000-0002-1142-0006
authors.initials: E
authors.lastname: Rumiato
authors.affiliation: Department of Medicine, Surgical Pathology and Cytopathology, University of Padova, Padova, Italy.
authors.forename: M
authors.identifier: 0000-0001-6515-5482
authors.initials: M
authors.lastname: Fassan
authors.affiliation: Department of Medicine, Surgical Pathology and Cytopathology, University of Padova, Padova, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Rugge
authors.affiliation: Oncological Surgery, Veneto Institute of Oncology IOV-IRCCS, Padova, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Cagol
authors.affiliation: Medical Oncology, Veneto Institute of Oncology IOV-IRCCS, Padova, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Marino
authors.affiliation: Medical Oncology, Veneto Institute of Oncology IOV-IRCCS, Padova, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Chiarion-Sileni
authors.affiliation: Department of Surgical Sciences, Oncology and Gastroenterology, University of Padova, Padova, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Ruol
authors.affiliation: Department of Oncology, ULSS 18-Rovigo, S. Maria della Misericordia Hospital, Rovigo General Hospital, Rovigo, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Gusella
authors.affiliation: Department of Oncology, ULSS 18-Rovigo, S. Maria della Misericordia Hospital, Rovigo General Hospital, Rovigo, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Pasini
authors.affiliation: Immunology and Molecular Oncology, Veneto Institute of Oncology IOV-IRCCS, Padova, Italy.|Department of Surgical Sciences, Oncology and Gastroenterology, University of Padova, Padova, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Amadori
authors.affiliation: Immunology and Molecular Oncology, Veneto Institute of Oncology IOV-IRCCS, Padova, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Saggioro
mesh_terms: D000230:Adenocarcinoma / Q000175:diagnosis / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000235:genetics*; D001943:Breast Neoplasms / Q000473:pathology / Q000628:therapy*; D002294:Carcinoma, Squamous Cell / Q000175:diagnosis / Q000235:genetics*; D016022:Case-Control Studies; D059248:Chemoradiotherapy; D004938:Esophageal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D000077277:Esophageal Squamous Cell Carcinoma; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D008223:Lymphoma / Q000175:diagnosis / Q000628:therapy*; D008297:Male; D016609:Neoplasms, Second Primary / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D010865:Pilot Projects; D012307:Risk Factors; D017741:Survivors; D013997:Time Factors; D016896:Treatment Outcome; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human