Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0043346 (xeroderma pigmentosum)
 2,924 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This paper examines the genetic defects associated with inherited cancer syndromes and their relevance to oral cancer. Tumour suppressor genes are now thought of as either gatekeepers or caretakers according to whether they control cell growth directly by inhibiting cell proliferation and/or promoting cell death (gatekeepers) or whether they maintain the integrity of the genome by DNA repair mechanisms (caretakers). In disorders such as xeroderma pigmentosum, ataxia telangiectasia, Bloom syndrome and Fanconi's anaemia, where there are defective caretaker genes, there is an increased incidence of second primary malignancies, including oral cancer. By contrast, with the exception of Li Fraumeni syndrome, abnormalities of gatekeeper genes do not predispose to oral cancer. Not only do Li Fraumeni patients develop second primary malignancies, but defects of the p53 pathway (p53 mutation, MDM2 over-expression, CDKN2A deletion) appear to be a ubiquitous feature of sporadic oral cancer as it occurs in the West. The findings suggest that genetic instability is of fundamental importance in the pathogenesis of oral cancer.
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PMID:A review of inherited cancer syndromes and their relevance to oral squamous cell carcinoma. 1185 72

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by clinical and cellular sensitivity, pigmentary changes, and early development of malignancies in sun-exposed mucocutaneous and ocular structures due to a defective ability to repair intracellular DNA damage. Individuals with XP also have a greater frequency of oral cancer, particularly squamous cell carcinoma of the anterior third of the tongue. The current study reports four cases of XP that exhibited a characteristic crescent-shaped, atrophic, telangiectatic area on the distal border of the tongue and correlates this lesion with the development of tumors at this site during follow-up. The tongue lesion was photographed and biopsied in the four patients. During routine follow-up visits, new biopsies were performed if additional tongue lesions were observed. The studied lesions were similar in the four patients. During follow-up, squamous cell carcinoma developed in one patient and pyogenic granuloma developed in three patients and was relapsing in one. The lesion remained stable in one patient during the study. The atrophic and telangiectatic patches probably occur because of chronic sun damage to the exposed portion of the tongue, and this area has a high predisposition for the development of benign and malignant tumors.
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PMID:An atrophic, telangiectatic patch at the distal border of the tongue: a mucous membrane manifestation of xeroderma pigmentosum. 2445 84

Several studies have investigated the association between xeroderma pigmentosum group D (XPD) Lys751Gln polymorphism and oral cancer. However, the impact of XPD Lys751Gln polymorphism on oral cancer risk is unclear, owing to the obvious inconsistence among those studies. The aim of this study was to derive a more precise estimation of the association of XPD Lys751Gln polymorphism with oral cancer by performing a meta-analysis. Data were analyzed using Stata, and publication bias was estimated. We included seven study populations, comprising 1,093 cases and 2,637controls from seven publications. The pooled odds ratio (OR) with their 95 % confidence interval (95 % CI) was calculated to assess the association between XPD Lys751Gln polymorphism and risk of oral cancer. Overall, there was no association between XPD Lys751Gln polymorphism and oral cancer risk under all genetic models (Gln/Gln versus Lys/Lys: OR = 1.23, 95 % CI 0.78-1.96, p = 0.04; Lys/Gln + Gln/Gln versus Lys/Lys: OR = 1.13, 95 % CI 0.87-1.48, p = 0.03; Gln/Gln versus Lys/Gln + Lys/Lys: OR = 1.14, 95 % CI 0.79-1.63, p = 0.16; Lys/Gln versus Lys/Lys: OR = 1.12, 95 % CI 0.89-1.40, p = 0.131). Subgroup analysis by ethnicity suggested that there was no association between XPD Lys751Gln polymorphism and oral cancer risk in both Asians and Caucasians. These results suggest that XPD Lys751Gln polymorphism is not related to oral cancer risk. Further large and well-designed studies are required to confirm this conclusion.
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PMID:XPD Lys751Gln polymorphism is not associated with oral cancer risk: evidence from a meta-analysis. 2465 92

Oral squamous cell carcinoma is the most common malignancy of the oral cavity, which is usually preceded by a myriad of oral potentially malignant disorders (OPMDs). In the classification of OPMDs, inherited cancer syndromes (ICSs) were proposed as one of the categories. Inherited cancer syndromes are genetic disorders in which inherited genetic mutation in one or more genes predispose the affected individuals to the development of cancer and may also cause its early onset. Many of these syndromes are caused by mutations in tumor suppressor genes, oncogenes, and genes involved in angiogenesis. General dental practitioners frequently come across OPMDs in their day-to-day practice. It becomes of paramount importance to have knowledge about these rare but prognostically important OPMDs. With this view in mind, in this article, efforts have been made to comprehensively discuss about various ICSs that have higher potential of transformation into oral cancer. The ICSs discussed in this article are xeroderma pigmentosum (XP), ataxia telangiectasia (AT), Bloom syndrome (BS), Fanconi's anemia (FA), and Li-Fraumeni syndrome (LFS), with special emphasis on signs, symptoms, and genetic considerations.
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PMID:Oral Cancer-related Inherited Cancer Syndromes: A Comprehensive Review. 2748 6