scholarly journals A single nucleotide polymorphism in the alcohol dehydrogenase 7 gene (alanine to glycine substitution at amino acid 92) is associated with the risk of squamous cell carcinoma of the head and neck

Cancer ◽  
2010 ◽  
Vol 116 (12) ◽  
pp. 2984-2992 ◽  
Author(s):  
Sheng Wei ◽  
Zhensheng Liu ◽  
Hui Zhao ◽  
Jiangong Niu ◽  
Li-E Wang ◽  
...  
2017 ◽  
Vol 14 (1) ◽  
pp. 27-31 ◽  
Author(s):  
Suresh Kumar Yadav ◽  
Shalini Gupta ◽  
Madan Lal Brahma Bhatt ◽  
Durga Prasad Mishra ◽  
Dayalanand Roy ◽  
...  

Cancers ◽  
2019 ◽  
Vol 12 (1) ◽  
pp. 55
Author(s):  
Guillaume B. Cardin ◽  
Monique Bernard ◽  
Houda Bahig ◽  
Phuc Felix Nguyen-Tan ◽  
Olivier Ballivy ◽  
...  

Genetic factors behind the increasing incidence of human papillomavirus (HPV) negative head and neck squamous cell carcinoma (HNSCC) in young non-smokers are suspected, but have not been identified. Recently, rs6942067, a single nucleotide polymorphism (SNP) located upstream of the DCBLD1 gene, was found associated with non-smoking lung adenocarcinoma. To validate if this SNP is also implicated in HNSCC, participants of The Cancer Genome Atlas HNSCC cohort were investigated for rs6942067 status, associated DCBLD1 expression, and clinical characteristics. Occurrence of the rs6942067 GG genotype is significantly higher in young and in HPV negative non-smoking HNSCC than in other HNSCC. Additionally, rs6942067 GG is associated with higher DCBLD1 expression in HNSCC and patients with high DCBLD1 expression have a worse overall survival at three years, both in univariate and multivariate analysis. Furthermore, high DCBLD1 expression is associated with activation of the integrin signaling pathway and its phosphorylation with EGFR and MET. Collectively, these findings suggest that DCBLD1 plays a critical role in HNSCC and demonstrate an association between rs6942067 and clinical characteristics of young age and HPV negative non-smoking status in HNSCC patients.


BMC Cancer ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Somkiat Sunpaweravong ◽  
Sacarin Bunbanjerdsuk ◽  
Tanjitti Pongrujikorn ◽  
Chaiwat Naktang ◽  
Patrapim Sunpaweravong ◽  
...  

Abstract Background The prognoses of head and neck squamous cell carcinoma (HNSCC) and esophageal squamous cell carcinoma (ESCC) are poor, especially when both tumors occur at the same time. We examined the clonal relatedness of HNSCCs with synchronous ESCCs to confirm whether the second tumors were metastasis or separate second primary malignancies (SPMs) using loss of heterozygosity (LOH) analysis. Methods Twenty-one pairs of formalin-fixed paraffin-embedded tissue from HNSCC patients with synchronous esophageal cancer were analyzed by single nucleotide polymorphism (SNP) array using the Illumina HumanCytoSNP FFPE-12 BeadChip (San Diego, CA), which contains approximately 300,000 probes. LOH was identified using Nexus Copy Number software (El Segundo, CA). Results Comparing the LOH pattern between HNSCC and paired ESCC, we found that 20 out of 21 paired tissues had a high number of discordant LOHs (LOH identified solely in the primary HNSCC but not in synchronous ESCC at the same genomic location) and a low number of concordant LOHs (LOH at the same genomic location in both HNSCC and ESCC). Only one case fell into the undetermined category. Therefore, these 20 ESCCs were classified as SPMs or second field tumors (SFTs). Moreover, the HNSCC patients with molecularly confirmed esophageal SPM had significantly poorer survival than the other patients. Conclusions We propose the use of a genome-wide SNP array as a tool to differentiate metastatic tumors from SPM/SFT. The SNP array offers genome-wide LOH information that earlier microsatellite analysis studies lack. The ability to accurately identify SPM should contribute to a better treatment plan and follow-up care of these patients.


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