Single nucleotide polymorphisms as markers of genetic susceptibility for oral potentially malignant disorders risk: Review of evidence to date

Shridhar, Krithiga; Aggarwal, Apoorva; Walia, Gagandeep Kaur; Gulati, Smriti; Geetha, A; Prabhakaran, Dorairaj; Dhillon, Preet K.; Rajaraman, Preetha

doi:10.1016/j.oraloncology.2016.08.005

Cited by 25 publications

(18 citation statements)

References 64 publications

(61 reference statements)

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“…These lines of evidence suggest that carcinogenic transformation of a leucoplakia is multifactorial and is patient‐specific . Therefore, it is possible that inter‐individual and interpopulation differences in risk could be explained partially by different distributions of genetic variants that may cause variation in the ability to metabolise carcinogens and/or effective repair of the damage caused by them . The above observations contribute to understanding of 20% of negative expression of PTEN in MSD group and 37% of negative expression in OSSC group.…”

Section: Discussionmentioning

confidence: 94%

PTEN allelic loss is an important mechanism in the late stage of development of oral leucoplakia into oral squamous cell carcinoma

et al. 2017

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PTEN allelic loss is an important mechanism in the late stage of development of oral leucoplakia into oral squamous cell carcinomaAim: The aim of this study was to analyse allelic loss of the phosphatase and tensin homologue deleted on chromosome 10 (PTEN) gene and its protein immuno-expression in dysplastic oral lesions and oral squamous cell carcinomas (OSCCs). Methods and results: Samples were collected from 153 patients [20 ranulas used as a control (C); 30 leucoplakias with mild dysplasia (MD); 30 leucoplakias with moderate to severe dysplasia (MSD); 73 oral squamous cell carcinoma (OSCC)]. PTEN protein expression was investigated using immunohistochemistry, and PTEN allelic loss was analysed by fluorescence in-situ hybridisation (FISH). Differences among groups were evaluated using the v 2 test.PTEN expression was higher in MSD (P = 0.002) and OSCC (P = 0.0259) compared with the C group; additionally, a higher expression was observed in MSD (P = 0.0035) and OSCC (P = 0.049) than MD. Regarding FISH analysis, a higher hemizygous (single copy) loss was observed in OSCC than in C (P = 0.0467) and in OSCC than in MD (P = 0.0175), as well as a higher homozygous deletion in OSCC compared with C (P = 0.0159) and OSCC than MD (P = 0.0145). Conclusion:The results of this work suggest that PTEN allelic loss is an important mechanism in the late stage of the development of oral potentially malignant lesions into oral cancer.

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Section: Discussionmentioning

confidence: 94%

PTEN allelic loss is an important mechanism in the late stage of development of oral leucoplakia into oral squamous cell carcinoma

et al. 2017

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“…Candidate gene‐association studies have not yielded consistent data on risk loci for oral potentially malignant disorders. A recent systematic review of single nucleotide polymorphism studies, for oral potentially malignant disorder risk, revealed single nucleotide polymorphisms in glutathione S‐transferase Mu 1 (null), cyclin D1 (G870A), matrix metalloproteinase 3 (‐1171; promotor region), tumor necrosis factor‐alpha (‐308; rs800629), pigmentosum group D (XPD‐codon 751), and Gemin3 (rs197412), as well as in p53 (codon 72). There is a lack of concordance in these findings in different studies and among populations.…”

Section: Potentially Malignant Oral Disordersmentioning

confidence: 99%

White, red, and mixed lesions of oral mucosa: A clinicopathologic approach to diagnosis

Warnakulasuriya

2019

Periodontology 2000

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A wide range of conditions could present as persistent white or red, or mixed white and red patches on the oral mucosa. Discussed here are some common conditions encountered in clinical practice that appear as white or red patches, together with some rare, but clinically significant, conditions. Based on pathognomonic features, major diagnostic criteria are outlined to help with the differential diagnosis, while some require further investigation (eg, biopsy and/or microbiologic or hematologic investigation) to confirm the provisional clinical diagnosis. Two conditions that require special consideration are leukoplakia and erythroplakia, as they have the potential to transform to cancer.

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“…For example, the presence of the nucleotide Thymine (T) in certain polymorphic regions of IL-1A (889-), IL-1B (+3954) or IL-1B (511-) can lead to an increased transcriptional activity of the IL1A and IL1B genes, constituting “positive” or at-risk alleles. This phenomenon has been linked to a wide range of disorders, in which there is an altered inflammatory response, such as rheumatoid arthritis, psoriasis or inflammatory bowel disease as well as other pathologies (e.g., cancer) ( 11 , 12 ). At the oral level, polymorphisms of IL-1 have been widely studied in relation to periodontal disease ( 19 ).…”

Section: Resultsmentioning

confidence: 99%

“…The role of genetic polymorphisms in different autoimmune, neurological and even oncological pathologies has been widely studied ( 11 , 12 ). On the contrary, in the case of peri-implant disease, there are still few studies and the results remain inconclusive.…”

Section: Introductionmentioning

confidence: 99%

Current understanding of genetic polymorphisms as biomarkers for risk of biological complications in implantology

et al. 2018

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BackgroundIn the last decade, multiple studies have been published that analyze the relationship between the risk of experiencing biological complications with implants and the presence of certain types of genetic polymorphisms. In the present report, we analyze the controversies that have arisen from this important area of investigation and synthesize the most prominent aspects of knowledge related to this possible etiopathogenic relationship.Material and MethodsFor this review, the biomedical databases PubMed-Medline, SciELO, and DOAJ were used. Different search strategies were employed, from which 298 articles initially emerged. After refinement of the search, 55 articles published between 2002 and 2018 were finally selected based on relevance.ResultsIn certain population groups, there is evidence to support that about a dozen polymorphisms could in some way be related to biological complications in implantology. Indeed, the results may vary according to the ethnic origin of the population studied. Most of the published investigations are initial studies reporting small sample sizes and utilizing different study group homogenization methods. We are still at a preliminary stage of our understanding and development with regard to these types of biomarkers. The interesting results identified indicate that new investigations will be necessary to eliminate the biases observed in some studies and to homogenize the research groups. In order to clarify the controversies surrounding the current knowledge in this field, we believe that it will be necessary to employ larger study groups and search for possible synergistic effects between different polymorphisms. Key words:Polymorphism, genetic markers, peri-implantitis, biological complication, dental implant.

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Single nucleotide polymorphisms as markers of genetic susceptibility for oral potentially malignant disorders risk: Review of evidence to date

Cited by 25 publications

References 64 publications

PTEN allelic loss is an important mechanism in the late stage of development of oral leucoplakia into oral squamous cell carcinoma

PTEN allelic loss is an important mechanism in the late stage of development of oral leucoplakia into oral squamous cell carcinoma

White, red, and mixed lesions of oral mucosa: A clinicopathologic approach to diagnosis

Current understanding of genetic polymorphisms as biomarkers for risk of biological complications in implantology

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