Association of DNA repair genes polymorphisms and mutations with increased risk of head and neck cancer: a review

This study evaluates the potential for tumor dose escalation in recurrent head and neck cancer (rHNC) patients with automated non-coplanar volumetric modulated arc therapy (VMAT) stereotactic body radiation therapy (SBRT) planning (HyperArc). Twenty rHNC patients are planned with conventional VMAT SBRT to 40 Gy while minimizing organ-at-risk (OAR) doses. They are then re-planned with the HyperArc technique to match these minimal OAR doses while escalating the target dose as high as possible. Then, we compare the dosimetry, tumor control probability (TCP), and normal tissue complication probability (NTCP) for the two plan types. Our results show that the HyperArc technique significantly increases the mean planning target volume (PTV) and gross tumor volume (GTV) doses by 10.8 ± 4.4 Gy (25%) and 11.5 ± 5.1 Gy (26%) on average, respectively. There are no clinically significant differences in OAR doses, with maximum dose differences of <2 Gy on average. The average TCP is 23% (± 21%) higher for HyperArc than conventional plans, with no significant differences in NTCP for the brainstem, cord, mandible, or larynx. HyperArc can achieve significant tumor dose escalation while maintaining minimal OAR doses in the head and neck—potentially enabling improved local control for rHNC SBRT patients without increased risk of treatment-related toxicities.

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Dental Restrictions to Clinical Practice during the COVID-19 Pandemic: An Australian Perspective

JDR Clinical & Translational Research ◽

10.1177/23800844211000341 ◽

2021 ◽

pp. 238008442110003

Author(s):

T.M. Nguyen ◽

U. Tonmukayakul ◽

H. Calache

Keyword(s):

Head And Neck Cancer ◽

Clinical Practice ◽

Dental Caries ◽

Knowledge Transfer ◽

Head And Neck ◽

Neck Cancer ◽

Dental Care ◽

Oral Diseases ◽

Increased Risk ◽

Dental Profession

The coronavirus disease 2019 (COVID-19) has disrupted essential oral healthcare in Australia. Sources for COVID-19 transmission via dental settings is considered to have high potential due to the production of aerosols and because transmission can occur through the airborne route. However, COVID-19 cases in dentistry is reportedly low. Delayed timely dental care, where severe oral diseases remain undetected, untreated, or asymptomatic such as advanced dental caries, periodontitis, and head and neck cancer, can have detrimental consequences for individuals at increased risk for oral diseases. The dental profession should remain vigilant and advocate for the continuation of essential oral healthcare even in times of uncertainty. Knowledge Transfer Statement: The reportedly low COVID-19 transmission occurring in dental settings highlight achievements made by the dental profession. There are valid reasons to reconsider risk-based essential oral healthcare during the COVID-19 pandemic.

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NF-κB1 intronic region polymorphisms as risk factor for head and neck cancer in HPV-infected population from Pakistan

Current Molecular Medicine ◽

10.2174/1566524021666210302144344 ◽

2021 ◽

Vol 21 ◽

Author(s):

Sumaira Sarwar ◽

Muammad Usman Tareen ◽

Maimoona Sabir ◽

Aneesa Sultan ◽

Salman A Malik

Keyword(s):

Head And Neck Cancer ◽

Lymph Nodes ◽

Head And Neck ◽

Tobacco Use ◽

Neck Cancer ◽

Direct Sequencing ◽

Hpv Infection ◽

Pakistani Population ◽

Specific Pcr ◽

Increased Risk

Background: Head and neck cancer (HNC) developed due to the number of risk factors, including infection of Human Papillomavirus (HPV). The genetic predisposition also plays an important role in deregulating the NF-κB pathway, and certain polymorphisms are reported to affect the pathway genes. Objectives: The present study was conducted for the detection of HPV and polymorphisms in the NF-κB1 gene of HNC patients in the Pakistani population. Methods: Genomic DNA from HNC tumors samples were extracted using the Exgene SV DNA extraction Kit. Allele-specific PCR and direct sequencing were done for analysis of NF-κB1 SNPs, 94ins/del (rs28362491), rs1598858, and rs4648068. Results: The genotypes AG (36.2%/ 12%) of rs1598858, and AG (28.3%/ 12%) and GG (28.3%/ 22%) of rs4648068 were associated with significantly (p≤0.05) increased risk of head and neck cancer in studied population. Furthermore, among the HNC cases, genotypes AGrs1598858 (p≤0.014) and GGrs4648068 (p≤0.001) had increased risk of HPV related cancers. Tobacco use (OR-3.158442; [1.140, 8.754]), lymph nodes involvement (OR 4.05128; [1.854, 8.852]), and poorly differentiated tumors (OR 1.997155; [0.940, 4.245]) were positively associated with HPV induced cancers. Conclusion: It was the first comprehensive study from Pakistan, to evaluate the polymorphic variants of NF-κB1. Genotypes AGrs4648068, GGrs4648068, and AGrs1598858 of NF-κB1 gene are associated with increased risk of head and neck cancers in the Pakistani population. It can be concluded that HPV infection, lymph nodes and tobacco use can act synergetic to each other and add up in modulating HNC when present together with intronic SNPs of NF-κB1 gene.

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Polymorphisms in human DNA repair genes and head and neck squamous cell carcinoma

Journal of Genetics ◽

10.1007/s12041-012-0193-z ◽

2012 ◽

Vol 91 (3) ◽

pp. 375-384 ◽

Cited By ~ 12

Author(s):

RIM KHLIFI ◽

Ahmed Rebai ◽

Amel Hamza-Chaffai

Keyword(s):

Squamous Cell Carcinoma ◽

Dna Repair ◽

Cell Carcinoma ◽

Head And Neck ◽

Squamous Cell ◽

Neck Squamous Cell Carcinoma ◽

Dna Repair Genes ◽

Human Dna ◽

Repair Genes

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Significance of Cyclin D1 Polymorphisms in Patients with Head and Neck Cancer

The International Journal of Biological Markers ◽

10.5301/jbm.2012.9768 ◽

2013 ◽

Vol 28 (1) ◽

pp. 49-55 ◽

Cited By ~ 7

Author(s):

Maimoona Sabir ◽

Ruqia Mehmood Baig ◽

Ishrat Mahjabeen ◽

Mahmood Akhtar Kayani

Keyword(s):

Head And Neck Cancer ◽

Cyclin D1 ◽

Head And Neck ◽

Neck Cancer ◽

Smoking Status ◽

Cell Cycle Control ◽

Multivariate Logistic Regression Analysis ◽

Pakistani Population ◽

Cyclin Dependent Kinases ◽

Increased Risk

Cyclin D1 plays a key role in cell cycle control, particularly in the transition from G1 to S phase, regulated by cyclin-dependent kinases. The objective of the present study was to screen the cyclin D1 gene (CCND1) for polymorphisms in patients with head and neck cancer (HNC). Genomic DNA was isolated from blood samples of 380 HNC patients and 350 controls. In a hospital-based case-control study using the PCR-SSCP technique we found 3 novel germline mutations: g3578C>A, g3475G>C and g3383delA. The commonly reported guanine to adenine polymorphisms in exon 4 g7656G>A (rs9344) and g10861C>A (rs7177) in 3′UTR of CCND1 were also observed. The calculated frequencies of the g7656G>A (rs9344) polymorphism in GG, GA and AA genotypes were 27.3%, 38.6%, and 33.9% in HNC cases, and 44.2%, 29.4%, and 26.2% in normal healthy controls, respectively. Adjusted by age (in years), sex and smoking status, multivariate logistic regression analysis showed that the AA and GA genotypes were associated with a significantly increased risk (OR 1.34, 95% CI 1.03-1.64, p=0.028) for HNC. The CCND1 AA genotype variant was associated with an increased risk in individuals who were <40 years old (OR 1.45, 95% CI 1.02-2.08, p=0.04). In conclusion, it is suggested that the CCND1 G/A polymorphism is associated with the early onset of HNC and may contribute to HNC susceptibility in a Pakistani population.

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