Familial Cancers of Head and Neck Region

Abstract

Cancers that occur in families more often than would be expected by chance are termed as familial cancers. They occur due to an inherited genetic mutation and account for 5%-10% of all cancers. This review article presents some of the common Familial Cancer Syndromes (FCS) such as MEN 2B, hyperparathyroidism-jaw tumour syndrome, familial oral squamous cell carcinoma, melanoma, nasopharyngeal carcinoma, paraganglioma, neurofibroma and other syndromes associated with head and neck region.

Enhanced expression of SETDB1 possesses prognostic value and promotes cell proliferation, migration and invasion in nasopharyngeal carcinoma

“…Nasopharyngeal carcinoma (NPC) is the most prevalent head and neck cancer in south China and east Asia, with the highest annual incidence of more than 20 per 100,000 reported among the Cantonese population (1,2). Unfortunately, most patients are diagnosed at the advanced stage (III-IVb) during their first visit.…”

Familial Aggregation of Head and Neck Cancer in Taiwan

“…17 In the case of familial oral squamous cell carcinoma, the estimated risks of FDRs is reported to be 1.1, 9.25, 103.5, or 3.812 by various studies, and is said to occur as an autosomal dominant disorder. 16 In a study by Hara et al, the age of onset of patients with oral cancer with affected FDRs was less than the reported mean of 52.8 years. 5 In an endemic region of areca quid (AQ) use, the occurrence of head and neck cancer was remarkably related with the exposure of the tobacco, alcohol, and AQrelated carcinogens.…”

“…Several tumors of familial origin in the head and neck, that is, familial parangliomas, multiple endocrine neoplasia types 1 and 2, neurofibromatosis, and familial papillary carcinoma of the thyroid, have been described in literature and are established to be the result of a germline mutation in a tumor suppressor gene. 10,16 Other wellcharacterized entities such as Lynch-II syndrome, Bloom syndrome, Fanconi anemia, xeroderma pigmentosum, ataxia telangiectasia, and Li-Fraumeni syndrome are well described to be associated with HNC. 16,28 Key features of hereditary cancer are early-age onset and multiple primary cancers.…”

“…Familial nasopharyngeal carcinoma is described to be associated with genetic polymorphisms of metabolic enzyme genes and DNA repair genes. 16 A population-based study in Taiwan reported a prevalence of nasopharyngeal cancer with affected FDRs was at 0.26%, and a generally younger age group with a mean age of 35.5 years (standard deviation [SD], 17.0), as opposed to 39.0 years (SD, 20.9) in the general population. 17 In the case of familial oral squamous cell carcinoma, the estimated risks of FDRs is reported to be 1.1, 9.25, 103.5, or 3.812 by various studies, and is said to occur as an autosomal dominant disorder.…”

Hypopharyngeal Squamous Cell Carcinoma in Sisters with LMNA Associated Familial Partial Lipodystrophy: A Case Report and Review of the Literature

“…Predisposition to hypopharyngeal cancer has previously been reported in patients with Fanconi anemia, Dyskeratosis Congenita, Xeroderma Pigmentosum, and Plummer-Vinson syndrome but, in general, a heritable component to oral and pharyngeal squamous cell cancers is not well established. 6 Rather, shared lifestyle risk factors, such as human papillomavirus (HPV) exposure, smoking, and alcohol use often contribute to reported familial tendencies of oral and pharyngeal cancers. 7 Though possibly a random occurrence, in our patient with a family history of a first degree relative with the same hypopharyngeal cancer diagnosed at the same age in the absence of a shared environment or other known lifestyle risk factors, an association with FPLD may be hypothesized.…”