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Head and neck cancer genetics

Ah Ra Jung, Young-Gyu Eun, Young Chan Lee, Joo Kyung Noh, Kee Hwan Kwon
Although the genetic alteration of CUB and Sushi multiple domains 1 (CSMD1) is known to be associated with poor prognosis in several cancers, there is a lack of clinical relevance in head and neck cancer. The aim of this study was to offer insight into the clinical significance of CSMD1, utilizing a multimodal approach that leverages publicly available independent genome-wide expression datasets. CSMD1-related genes were found and analyzed to examine the clinical significance of CSMD1 inactivation in the HNSCC cohort of publicly available databases...
December 12, 2018: International Journal of Molecular Sciences
An-Shun Tai, Chien-Hua Peng, Shih-Chi Peng, Wen-Ping Hsieh
Multistage tumorigenesis is a dynamic process characterized by the accumulation of mutations. Thus, a tumor mass is composed of genetically divergent cell subclones. With the advancement of next-generation sequencing (NGS), mathematical models have been recently developed to decompose tumor subclonal architecture from a collective genome sequencing data. Most of the methods focused on single-nucleotide variants (SNVs). However, somatic copy number aberrations (CNAs) also play critical roles in carcinogenesis...
2018: PloS One
Tao Li, Huahuang Ling, Yaoyong Lu, Xiangcheng Wu, Maode Cai, Binguang Su, Ying Zou
Background: Published studies have evaluated the association between excision repair cross-complementing Group 5 (ERCC5) rs17655 polymorphism and head and neck cancer (HNC) susceptibility. However, these studies showed inconsistent results. Aims: The aim of this study was to get a more comprehensive estimation of this association. Materials and Methods: Multiple databases were searched for the genetic association on the ERCC5 rs17655 polymorphism and HNC risk...
December 2018: Journal of Cancer Research and Therapeutics
Henri Schmidt, Arutha Kulasinghe, Richard J N Allcock, Lit Yeen Tan, Elisa Mokany, Liz Kenny, Chamindie Punyadeera
BACKGROUND: PIK3CA pathways are the most frequently mutated oncogenic pathway in head and neck squamous cell carcinoma (HNSCC), including virally driven HNCs. PIK3CA is involved in the PI3K-PTEN-mTOR signalling pathway. PIK3CA has been implicated in HNSCC progression and PIK3CA mutations may serve as predictive biomarkers for therapy selection. Circulating tumour DNA (ctDNA) derived from necrotic and apoptotic tumour cells are thought to harbour tumour-specific genetic alterations. As such, the detection of PIK3CA alterations detected by ctDNA holds promise as a potential biomarker in HNSCC...
November 29, 2018: Diagnostics
Michelle D Williams, Alessandro Franchi, Tim Helliwell, Susan Müller, Lester D R Thompson
Standardized pathologic reporting for cancers allows for improved communication for patient care and prognostic determination. If used universally, synoptic reporting enhances comparing data globally for scientific leverage. The International Collaboration on Cancer Reporting is a nonprofit organization whose mission is to develop evidence-based, universally available surgical pathology reporting data sets. Multiple different sites within the head and neck may be affected by mucosal melanoma, whose behavior and patient outcome are not equivalent to carcinomas of the corresponding sites...
November 30, 2018: Archives of Pathology & Laboratory Medicine
Orit Kaidar-Person, Ziv Gil, Salem Billan
Head and Neck cancer is among the most common cancers worldwide, with a high prevalence in south East Asia, Brazil and central Europe. Head and Neck Squamous cell carcinoma (HNSCC) is associated with elevated mutational load but lacks specific genetic mutations. Exposure to carcinogens including tobacco and alcohol are the most dominant etiologic factors of HNSCC, while Epstein-Barr (HBV) and Human Papilloma Viruses (HPV) are associated with nasopharyngeal and oropharyngeal carcinoma, respectively. Surgery including open and minimally invasive procedures is considered the standard of care for the majority of oral cavity and early larynx cancers, while radiation therapy or concurrent chemoradiation are used for the other head and neck cancers...
September 2018: Drug Resistance Updates: Reviews and Commentaries in Antimicrobial and Anticancer Chemotherapy
Vincent Roh, Pierre Abramowski, Agnès Hiou-Feige, Kerstin Cornils, Jean-Paul Rivals, Alexandre Zougman, Tim Aranyossy, Lars Thielecke, Zinnia Truan, Maxime Mermod, Yan Monnier, Vladimir Prassolov, Ingmar Glauche, Ali Nowrouzi, Amir Abdollahi, Boris Fehse, Christian Simon, Genrich V Tolstonog
Local recurrence after surgery for head and neck squamous cell carcinoma (HNSCC) remains a common event associated with a dismal prognosis. Improving this outcome requires a better understanding of cancer cell populations that expand from postsurgical minimal residual disease (MRD). Therefore, we assessed clonal dynamics in a surgical model of barcoded HNSCC growing in the submental region of immunodeficient mice. Clonal substitution and massive reduction of clonal heterogeneity emerged as hallmarks of local recurrence, as the clones dominating in less heterogeneous recurrences were scarce in their matched primary tumors...
November 20, 2018: Cell Reports
Rodopi Emfietzoglou, Nikolaos Spyrou, Christos S Mantzoros, Maria Dalamaga
Bisphenol-A (BPA), a prototype endocrine disrupting molecule, has been associated with many disease entities such as diabetes mellitus, obesity, polycystic ovarian disease, cardiovascular disease, reproductive and neurodevelopmental disorders. BPA has also been associated mainly with hormone sensitive cancers such as breast, prostate, endometrial, ovarian, testicular and thyroid cancers but also non-hormonal sensitive cancers such as cervical and lung cancers, osteosarcoma and meningioma. Recent research has investigated the sources of contamination which are responsible for higher BPA concentrations in the oral cavity and oropharyngeal space, representing the first site of BPA exposure after ingestion...
November 17, 2018: Metabolism: Clinical and Experimental
M G Kimlin, D R Youlden, A M Brodie, T DiSipio, P Youl, V Nair-Shalliker, P D Baade
Invasive melanoma survivors have an increased risk of developing second primary cancers, however, similar risks associated with in situ melanoma haven't been established. We evaluated 43,829 first primary in situ melanoma survivors diagnosed from 1982-2012 in Queensland, Australia. Risk of second non-melanoma primary cancers was estimated from standardized incidence ratios with 95% confidence intervals. A total of 4,917 (11.3%) in situ melanoma survivors developed a second primary cancer. No net increased risk compared with the general population was found...
November 10, 2018: Journal of Investigative Dermatology
Prasenjit Chakraborty, Tanusri Karmakar, Neeraj Arora, Geetashree Mukherjee
Head and neck squamous cell carcinoma (HNSCC) is responsible for a large number of deaths each year. Oral cancer is the most frequent subtype of HNSCC. Historically, oral cancer has been associated with an increase in the consumption of tobacco and alcohol products, seen especially in the Asian subcontinent. It has also been associated with infection by the human papilloma virus (HPV), particularly strain HPV16. Treatment usually involves a multidisciplinary approach of surgery combined with chemotherapy and radiation...
October 2018: Heliyon
David M Vossen, Caroline V M Verhagen, Reidar Grénman, Roelof J C Kluin, Marcel Verheij, Michiel W M van den Brekel, Lodewyk F A Wessels, Conchita Vens
BACKGROUND: Large cancer genome studies continue to reveal new players in treatment response and tumorigenesis. The discrimination of functional alterations from the abundance of passenger genetic alterations still poses challenges and determines DNA sequence variant selection procedures. Here we evaluate variant selection strategies that select homozygous variants and rare SNPs and assess its value in detecting tumor cells with DNA repair defects. METHODS: To this end we employed a panel of 29 patient-derived head and neck squamous cell carcinoma (HNSCC) cell lines, of which a subset harbors DNA repair defects...
2018: PloS One
S Kareemaghay, M Tavassoli
Head and neck squamous cell carcinoma (HNSCC) is the sixth most common malignancy worldwide, accounting for more than 550,000 cases and 380,000 deaths annually. The primary risk factors associated with HNSCC are tobacco use and alcohol consumption; nevertheless genetic predisposition and oncogenic viruses also play important roles in the development of these malignancies. The current treatments for HNSCC patients include surgery, chemotherapy, radiotherapy, and cetuximab, and combinations of these. However, these treatments are associated with significant toxicity, and many patients are either refractory to the treatment or relapse after a short period...
November 3, 2018: International Journal of Oral and Maxillofacial Surgery
Peng Wang, Meng Jin, Chuan-Hui Sun, Like Yang, Yu-Shan Li, Xin Wang, Ya-Nan Sun, Lin-Li Tian, Ming Liu
Increasing evidence has shown that long non-coding RNAs (lncRNAs) have important biological functions and can be used as a prognostic biomarker in human cancers. However, investigation of the prognostic value of lncRNAs in head and neck squamous cell carcinoma (HNSCC) is in infancy. In the present study, we analyzed the lncRNA expression data in a large number of HNSCC patients ( n =425) derived from The Cancer Genome Atlas (TCGA) to identify an lncRNA expression signature for improving the prognosis of HNSCC...
December 21, 2018: Bioscience Reports
M Oellerich, E Schütz, J Beck, P D Walson
Genomic analyses in oncologic care allow for the development of more precise clinical laboratory tests that will be critical for personalized pharmacotherapy. Traditional biopsy-based approaches are limited by the availability of sequential tissue specimens to detect resistance. Blood-based genomic profiling ("liquid biopsy") is useful for longitudinal monitoring of tumor genomes and can complement biopsies. Tumor-associated mutations can be identified in cell-free tumor DNA (ctDNA) from patient blood samples and used for monitoring disease activity...
October 16, 2018: Therapeutic Drug Monitoring
Raquel L Costa, Mariana Boroni, Marcelo A Soares
The human papillomavirus (HPV) is present in a significant fraction of head-and-neck squamous cell cancer (HNSCC). The main goal of this study was to identify distinct co-expression patterns between HPV+ and HPV- HNSCC and to provide insights into potential regulatory mechanisms/effects within the analyzed networks. We selected cases deposited in The Cancer Genome Atlas database comprising data of gene expression, methylation profiles and mutational patterns, in addition to clinical information. The intersection among differentially expressed and differentially methylated genes showed the negative correlations between the levels of methylation and expression, suggesting that these genes have their expression levels regulated by methylation alteration patterns in their promoter...
October 15, 2018: Scientific Reports
Andrew P Zammit, Rohit Sinha, Caroline L Cooper, Christopher F L Perry, Ian H Frazer, Zewen K Tuong
Oral cavity Squamous Cell Carcinoma (OCSCC) is a common form of head and neck cancer throughout the developed and developing world. However, the etiology of OCSCC is still unclear. Here, we explored the extent to which tobacco use, Human Papillomavirus (HPV) infection and genetic and transcriptomic changes contributed to the oncogenesis of OCSCC. In a prospective observational study, we analysed fresh tissue biopsies from 45 OCSCC collected from 51 subjects presenting with OCSCC to the Brisbane Head and Neck Clinics between 2013 and 2015...
2018: PloS One
Jiao Yuan, Zhongyi Hu, Brandon A Mahal, Sihai D Zhao, Kevin H Kensler, Jingjiang Pi, Xiaowen Hu, Youyou Zhang, Yueying Wang, Junjie Jiang, Chunsheng Li, Xiaomin Zhong, Kathleen T Montone, Guoqiang Guan, Janos L Tanyi, Yi Fan, Xiaowei Xu, Mark A Morgan, Meixiao Long, Yuzhen Zhang, Rugang Zhang, Anil K Sood, Timothy R Rebbeck, Chi V Dang, Lin Zhang
Disparities in cancer care have been a long-standing challenge. We estimated the genetic ancestry of The Cancer Genome Atlas patients, and performed a pan-cancer analysis on the influence of genetic ancestry on genomic alterations. Compared with European Americans, African Americans (AA) with breast, head and neck, and endometrial cancers exhibit a higher level of chromosomal instability, while a lower level of chromosomal instability was observed in AAs with kidney cancers. The frequencies of TP53 mutations and amplification of CCNE1 were increased in AAs in the cancer types showing higher levels of chromosomal instability...
October 8, 2018: Cancer Cell
Sining Zhu, Juan Jin, Samantha Gokhale, Angeli M Lu, Haiyan Shan, Jianjun Feng, Ping Xie
The tumor necrosis factor receptor (TNF-R)-associated factor (TRAF) family of cytoplasmic adaptor proteins regulate the signal transduction pathways of a variety of receptors, including the TNF-R superfamily, Toll-like receptors (TLRs), NOD-like receptors (NLRs), RIG-I-like receptors (RLRs), and cytokine receptors. TRAF-dependent signaling pathways participate in a diverse array of important cellular processes, including the survival, proliferation, differentiation, and activation of different cell types. Many of these TRAF-dependent signaling pathways have been implicated in cancer pathogenesis...
2018: Frontiers in Immunology
Marisa C Eisenberg, Lora P Campredon, Andrew F Brouwer, Heather M Walline, Brittany M Marinelli, Yan Kwan Lau, Trey B Thomas, Rachel L Delinger, Taylor S Sullivan, Monica L Yost, Christine M Goudsmit, Thomas E Carey, Rafael Meza
INTRODUCTION: Human papillomavirus (HPV) is the primary cause of cervical and other anogenital cancers and is also associated with head and neck cancers. Incidence of HPV-related oropharyngeal squamous cell cancers (OPSCCs) is increasing, and HPV-related OPSCCs have surpassed cervical cancer as the most common HPV-related cancer in the USA. Given the multisite nature of HPV, there is strong interest in collecting data from both genital and oral sites, as well as associated data on social and sexual behaviours...
October 2, 2018: BMJ Open
Joshua E Lubek
Ongoing genetic and epigenetic research involving DNA methylation, salivary biomarkers, wild-type p53 tumor suppressor gene proteins, and HPV oncogenes are being directed at identification and treatment of dysplastic and malignant squamous cell mucosal lesions. Research is being conducted to improve immunotherapy drug response rates by increasing the amount of inflammation within the tumor microenvironment. Ongoing research is focused on the application of the antidiabetic drug metformin for the prevention and management of oral squamous cell dysplastic lesions...
November 2018: Oral and Maxillofacial Surgery Clinics of North America
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