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Our clinical data established a spectrum of MEFV mutations among Japanese patients.
We aimed to reveal the prevalence and pattern of human papillomavirus (HPV) infection and p53 mutations among Japanese head and neck squamous cell carcinoma (HNSCC) patients in relation to clinicopathological parameters.
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Among over 50 mutations of SLC25A13 described [ 25], the 851del4 (mutation I) and IVS11+1G>A (mutation II) are the most frequent mutations described among Japanese affected population, accounting for 70% of the mutant alleles, and 851del4 is the most frequent in Chinese [ 8, 20].
There are founder mutations reported among Japanese patients (c.3139-1G>C, which results in skipping of exon 26) and in Sardinian patients (c.2089-3024A>G, whicreatestes a new exon between exons 18 and 19).
Despite these findings, the prevalence and pattern of HPV infection and p53 mutations in HNSCC among Japanese patients remain less well established.
The high incidence of renal hypouricemia is a reflection of the high allele frequency (2.30 to 2.37%) of the G774A mutation in SLC22A12 among Japanese [ 29, 30].
In conclusions, homozygous UGT2B17-deletion may interact with smoking and p16-protein expression to increase the risk of TP53-mutations, and may further interact with disruptive TP53-mutations to raise relapse rates among Japanese patients with HNSCC.
These results suggest that UGT2B17-deletion interacting with p16 may modify effects of smoking on TP53-mutations and may further interact with the disruptive TP53-mutations to raise relapse rates among Japanese patients with HNSCC.
A screen of 1703 POAG patients from five different populations representing three racial groups identified Q368X as the most common mutation, occurring in 1.6% of the probands, except among Japanese [31].
In case of mutations in EYS genes, high prevalence has also been observed among Spanish population14, Americans with European origin13 and among Japanese populations60.
Because UGT2B17 deletion is common among Japanese, the power to detect interacting effects between smoking and UGT2B17-deletion on TP53-mutations can be enhanced by focusing on Japanese patients with HNSCC.
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