Familial Head and Neck Cancer: Molecular Analysis of a New Clinical Entity

Yu, Kathy K.; Zanation, Adam M.; Moss, Jonathan R.; Yarbrough, Wendell G.

doi:10.1097/00005537-200209000-00010

Cited by 27 publications

(23 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Increased risk of OSCC has also been reported in individuals inheriting functionally inactivating mutations in the CDKN2A gene. Somatic inactivation of this important regulator of cell cycle at the G1-S boundary has also been reported in sporadic OSCC tumors [27][28][29][30]. The case for the presence of predisposing genetic factors for OSCC is strengthened by the fact that positive family history increases an individual's risk for OSCC by 2-to 4-fold.…”

Section: Etiology and Risk Factorsmentioning

confidence: 90%

Molecular mechanisms of head and neck cancer

Deshpande

Wong²

2008

Expert Review of Anticancer Therapy

View full text Add to dashboard Cite

Background-With a global incidence rank of eight and a significant portion of head and neck malignancies (~90%), oral squamous cell carcinoma (OSCC) poses a major health risk and is one of the leading cause of mortality in developing nations [1]. Distribution of the incidence of OSCC varies across the world with south-central Asia and Africa leading, followed by eastern and central Europe, and to a lesser extent Australia, Japan, and the United States. Over the past few years there has been a drastic increase in the incidence of oral cancer in most parts of the world [2]. In the United States alone, with about 17 new cases/100,000, oral cancer is the fifth most common and sixth leading cause of cancer-related mortality per year [3].While men tend to have a higher incidence of OSCC (6.6/100,000) compared to women (2.9/100,000), there is an equal mortality rate between the sexes (50%).

show abstract

Section: Etiology and Risk Factorsmentioning

confidence: 90%

Molecular mechanisms of head and neck cancer

Deshpande

Wong²

2008

Expert Review of Anticancer Therapy

View full text Add to dashboard Cite

show abstract

“…150,151 Oral cancer at a young age has also been reported in families with functionally inactivated germline mutations in p16. [152][153][154] Somatic inactivation of p16, an important regulator of the G1-S transition of the cell cycle, is also a common event in the genetic progression of sporadic oral cancers. 155 Although oral cancer is rarely associated with specific known inherited cancer syndromes, studies of the impact of family history on risk of oral cancer are consistent with a genetic component to sporadic cancers.…”

Section: Genetic Predisposition To Head and Neck Cancermentioning

confidence: 99%

Current topics in the epidemiology of oral cavity and oropharyngeal cancers

2007

View full text Add to dashboard Cite

Oral cancer incidence rates rose dramatically during the twentieth century in the United States and Europe, especially among individuals under the age of 60 years. Although influenced by age, sex, and country of origin, incidence trends were most strongly affected by elevated risk among individuals born after approximately 1915. This cohort effect was indicative of strong behavioral influences on oral cancer risk. In this article, associations between oral cancer risk and established behavioral risk factors including alcohol and tobacco use are reviewed. Additionally, possible associations between oral cancer risk and oral hygiene, diet, nutritional status, and sexual behavior as well as the influence of genetic factors on oral cancer risk are considered. Special emphasis is placed on evaluating possible risk differences in individuals above and below the age of 45 and in users and nonusers of alcohol and tobacco. Oral squamous cell carcinomas arise from several anatomic sites within the oral cavity and oropharynx, but most commonly from the oral, mobile tongue.1 In the 1980s, 2 cancer centers in the United States (U.S.) reported an increase in the proportion of incident oral tongue cancers diagnosed in men younger 40 years.2,3 Although absolute numbers had increased, these reports provided no real evidence of rising incidence. Shortly thereafter, however, a significant 2-fold increase in oral tongue cancer mortality rates between 1950 and 1982 was reported in the U.S. for men younger than 30 years. 4 This finding was corroborated by a study in Scotland. 5 Further analysis of the Scottish data revealed that the increase in incidence was not restricted to those younger than 40 but extended to all age groups less than 65 years of age born after 1920-a strong ''cohort effect.'' The cohort effect was indicated by a strong effect of year of birth on oral cancer incidence rates. A flurry of research on global changes in oral cancer incidence was stimulated by these reports.

show abstract

“…They found a high incidence of HNSCC with a nonfunctional germline point mutation within exon 2 of the p16 (CDKN2A) gene giving rise to a mutant p16 protein which is formed by substituting proline for the wild type arginine at amino acid position 87 (p16R87P). The mutant (p16R87P) allele segregated with cancer predisposition in tested family members imply a direct causal relationship between the germline p16 mutation in this family with HNSCC tumorigenesis thereby adding p16 (CDKN2A) mutation a new clinical entity for familial HNSCC [114].…”

Section: Familial and Genetic Predisposition As Risk Factorsmentioning

confidence: 89%

“…A possible explanation for the prevalence of cancer within the same family is familial aggregation of shared risk factors such as genetic polymorphism for carcinogen metabolising genes or detoxifying enzymes [18]. In a study conducted by Yu et al [114] a molecular pedigree analysis of the p16 (CDKN2A) gene locus in blood and tumour DNA from a family was performed. They found a high incidence of HNSCC with a nonfunctional germline point mutation within exon 2 of the p16 (CDKN2A) gene giving rise to a mutant p16 protein which is formed by substituting proline for the wild type arginine at amino acid position 87 (p16R87P).…”

Section: Familial and Genetic Predisposition As Risk Factorsmentioning

confidence: 99%

Head and Neck Squamous Cell Carcinoma: Prognosis using molecular approach

Mazumder

Nath

et al. 2014

Open Life Sciences

View full text Add to dashboard Cite

Head and neck squamous cell carcinoma (HNSCC) is the fifth most prevalent cancer worldwide. Apart from various known clinicopathogical factors, it is still a major concern as many genetic and epigenetic alterations bring about the possibility of this deadly disease. The aim of this review is to explore the possible role of DNA repair pathways and the polymorphic status of DNA repair genes (XPA, XPC, XPD, XRCC1 and XRCC3) in the onset of HNSCC, along with sequence variations in genes such as Glutathione S-transferases (GSTT1, M1 and P1) that are significantly associated with HNSCC risk. We also focus on the p53 gene mutation induced by various etiological agents and threat factors with its implications towards HNSCC, and emphasise the current therapeutic interventions in treating HNSCC.

show abstract

Familial Head and Neck Cancer: Molecular Analysis of a New Clinical Entity

Cited by 27 publications

References 19 publications

Molecular mechanisms of head and neck cancer

Molecular mechanisms of head and neck cancer

Current topics in the epidemiology of oral cavity and oropharyngeal cancers

Head and Neck Squamous Cell Carcinoma: Prognosis using molecular approach

Contact Info

Product

Resources

About