Background & Objective: Xeroderma pigmentosum group C(XPC) gene is involved in nucleotide excision repair (NER). Single nucleotide polymorphisms (SNP) in XPC gene may affect DNA repairing capacity and genetic susceptibility to cancer. This study was to investigate the correlation of XPC exon 8 Ala499Val and exon 15 Lys939Gln SNPs to the susceptibility of esophageal squamous cell carcinoma (ESCC) and gastric cardiac adenocarcinoma (GCA) in a population at a high incidence region of Hebei Province.
Methods: XPC exon 8 Ala499Val and exon 15 Lys939Gln SNPs were genotyped by polymerase chain reaction-restrictive fragment length polymorphism (PCR-RFLP) analysis in 327 ESCC patients, 253 GCA patients, and 612 healthy controls.
Results: The number of the subjects with family history of upper gastrointestinal cancer (UGIC) was significantly higher in ESCC and GCA groups than in control group. Family history of UGIC may increase the risk of developing ESCC and GCA [age and gender adjusted odds ratio (OR) =1.76 and 1.77, 95% confidence interval (CI) = 1.34-2.32 and 1.31-2.39]. The overall allelotype and genotype distributions of XPC exon 8 Ala499Val in ESCC patients were not significantly different from those in healthy controls (P>0.05). T allelotype frequency of XPC exon 8 in GCA patients was 26.5%, which was significantly lower than that in healthy controls (Chi2=6.12, P=0.01). The C/T genotype frequencies of XPC exon 8 in GCA patients and healthy controls were 35.6% and 46.1% respectively. Compared with individuals with C/C genotype, individuals with C/T genotype had significantly lower risk in developing GCA (OR=0.62, 95% CI=0.45-0.84). When stratified for smoking status and family history of UGIC, compared with individuals with C/C genotype, individuals with C/T genotype in smoker group and in the group without family history of UGIC had lower risk in developing GCA (OR=0.57, 95% CI=0.36-0.91 and 0.37-0.88). The overall allelotype and genotype distributions of XPC exon 15 Lys939Gln in ESCC and GCA patients were not significantly different from those in healthy controls (P>0.05). When stratified for smoking status and family history of UGIC, compared with individuals with A/A genotype, individuals in non-smoker group with C/C genotype had higher risk in developing ESCC (OR=2.05, 95% CI=1.15-3.66). The haplotype distribution of ESCC patients was not significantly different from that of healthy controls (P>0.05), while the haplotype distribution of GCA patients was significantly different from that of healthy controls (P=0.02). Compared with A/T haplotype, A/C and C/C haplotypes significantly increased the risk of developing GCA (OR=1.35 and 1.46, 95% CI=1.01-1.81 and 1.06-2.00).
Conclusions: In the high incidence region of Hebei Province, C/T genotype of XPC exon 8 may decrease the risk of developing GCA. Lys939Gln SNP in exon 15 may have no influence on the risk of ESCC and GCA, but when stratified for smoking status, C/C genotype of XPC exon 15 may increase the risk of developing ESCC in non-smoking population. While A/C and C/C haplotypes may increase the risk of developing GCA.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.
DNA Repair (Amst)
April 2024
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Department of Dermatology and Cutaneous Biology, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:
Inherited photosensitivity syndromes are a heterogeneous group of genetic skin disorders with tremendous phenotypic variability, characterized by photosensitivity and defective DNA repair, especially nucleotide excision repair. A cohort of 17 Iranian families with heritable photosensitivity syndromes was evaluated to identify their genetic defect. The patients' DNA was analyzed with either whole-exome sequencing or RNA sequencing (RNA-Seq).
View Article and Find Full Text PDFFamilial Melanoma Phenotype With Xeroderma Pigmentosum Group C (XP-C) Genotype - The Putative Role of MC1R Polymorphism as Modifier.
Dermatol Pract Concept
January 2024
Departments of Surgery, School of Medicine, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
Introduction: Xeroderma pigmentosum (XP), a rare inherited condition, hallmarked by extreme sensitivity to sun exposure resulting in multiple skin cancers and non-malignant skin alterations is attributed to homozygous inactivating pathogenic variants (PVs) in DNA repair genes, predominantly the XPC gene.
Objectives: Report a unique phenotypic expression of mutant XPC allele that may be compatible with a putative modifier role for MC1R polymorphism.
Methods: A family of 13 siblings, seven of whom were diagnosed with at least one cutaneous melanoma (N = 53) and non-melanoma skin cancers (N = 9) was studied.
Genetic Polymorphisms of XPC, XPD, XPG Genes and their Association with Radiotherapy Induced Toxicity among Head and Neck Cancer Patients: A Hospital Based Study from Maharashtra.
Asian Pac J Cancer Prev
January 2024
Department of Molecular Biology & Genetics, Krishna Vishwa Vidyapeeth "Deemed to be University", Taluka-Karad, Dist- Satara,Maharashtra, India.
Background: The present study was planned to investigate possible association of single nucleotide polymorphisms (SNPs) of nucleotide excision repair (NER) genes such as XPC, XPD, XPG with acute radiation induced toxicities such as skin reactions and oral mucositis in normal tissue from head and neck cancer (HNC) patients receiving radiotherapy. Methods: Two hundred and fifty HNC patients receiving radiotherapy were enrolled in this study and the acute toxicity reactions and radiation response were recorded. Association of SNPs rs2228001 of XPC, rs238406, rs13181 of XPD and rs17655 of XPG gene with normal tissue reactions in the form of dermatitis and mucositis were studied by PCR-RFLP and direct DNA sequencing.
View Article and Find Full Text PDFWhole Exome Sequencing of a Patient with a Milder Phenotype of Xeroderma Pigmentosum Group C.
Medicina (Kaunas)
April 2023
Department of Dermatology, College of Medicine, Kyung Hee University, Seoul 02447, Republic of Korea.
A 17-year-old female Korean patient (XP115KO) was previously diagnosed with Xeroderma pigmentosum group C (XPC) by Direct Sanger sequencing, which revealed a homozygous nonsense mutation in the gene (rs121965088: c.1735C > T, p.Arg579Ter).
View Article and Find Full Text PDFGenetic variants of cancer‑associated genes analyzed using next‑generation sequencing in small sporadic vestibular schwannomas.
Oncol Lett
March 2023
Department of Otolaryngology, Kindai University Faculty of Medicine, Osaka-Sayama, Osaka 589-8511, Japan.
Article Synopsis
- Vestibular schwannoma (VS) is the most common tumor found at the cerebellopontine angle and has seen a rise in sporadic cases, leading to a decrease in traditional microsurgery treatments.
- Advances in imaging techniques are replacing these surgeries, especially for smaller VS tumors.
- A genomic analysis of 10 small sporadic VS samples identified specific mutated genes, including one that was frequently mutated, but did not establish a clear link to hearing loss caused by VS.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!