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Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-716093


OBJECTIVE: The aim of the present study was to assess the frequency of germline mutations in patients with peritoneal carcinoma (PC) or the fallopian tube carcinoma (FTC), using a multi-gene panel. METHODS: Twenty-six patients diagnosed with either PC or FTC between January 2013 and December 2016 were recruited consecutively. Germline DNA was sequenced using a 6-gene next generation sequencing (NGS) panel following genetic counseling. Surgico-medical information was obtained from hospital records. Genetic variations were detected using the panel and were cross-validated by Sanger direct sequencing. RESULTS: Germline BRCA1/2 mutations were identified in 6 patients (23.1%). Four were detected in patients with PC and 2 were in FTC patients. No mutations were detected in TP53, PTEN, CDH1, or PALB2. We identified 11 variant of uncertain significance (VUS) in 9 patients; 2 in BRCA1, 3 in BRCA2, 2 in TP53, and 4 in CDH1. We also detected a CDH1 c.2164+16->A VUS in 3 patients. CONCLUSION: The prevalence of germline BRCA1/2 mutations in patients with PC or FTC is comparable to that of BRCA1/2 mutations in epithelial ovarian cancer patients.

DNA , Neoplasias das Tubas Uterinas , Tubas Uterinas , Feminino , Genes BRCA1 , Genes BRCA2 , Aconselhamento Genético , Variação Genética , Mutação em Linhagem Germinativa , Registros Hospitalares , Humanos , Neoplasias Ovarianas , Neoplasias Peritoneais , Peritônio , Prevalência
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-105860


PURPOSE: To compare and analyze changes in vision quality, subjective symptoms, and psycho-social satisfaction in keratoconus and myopic patients following the wearing of contact lenses. METHODS: This study enrolled 25 keratoconus and 25 myopic patients with corrected vision over 0.8 according to the Snellen chart due to treatment with contact lenses. Patients were surveyed prior to the wearing of contact lenses, and again after three months of contact lens usage with a questionnaire about quality of vision and life. The changes in visual function, visual symptoms, and psycho-social well-being before and after contact lens usage were analyzed. RESULTS: The keratoconus patients' overall degree of satisfaction was higher than the overall degree of satisfaction of myopic patients, and the motivation for contact lens usage and purpose of contact lens treatment were different in the two groups. Keratoconus patients experienced greater changes in satisfaction, particularly in satisfaction during night activities, short-distance work, and the reading of fine print. Furthermore, they experienced fewer dry eye symptoms but greater foreign body sensations than patients with myopia following treatment with contact lenses. No statistically significant differences in social role functions existed between the two groups. Keratoconus patients had a lower expectation of visual acuity recovery before treatment with contact lenses (Mann-Whitney U-test, p = 0.049) compared to myopic patients, and more anxiety about vision loss following treatment (Wilcoxon signed-rank test, p = 0.018) compared to their level of anxiety about vision loss before treatment with contact lenses. CONCLUSIONS: Although the same treatment was applied, keratoconus and myopic patients experienced different types of discomfort and areas of improvement in contact lens corrected vision. Therefore, not only corrected vision, but also subsequent improvement and discomfort outcomes should be considered by patients when choosing contact lens treatment. For patients with mild keratoconus, contact lens treatment may be an efficacious first treatment modality.

Ansiedade , Lentes de Contato , Corpos Estranhos , Humanos , Ceratocone , Motivação , Miopia , Sensação , Acuidade Visual
Genomics & Informatics ; : 50-57, 2014.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-41695


We present a new next-generation sequencing-based method to identify somatic mutations of lung cancer. It is a comprehensive mutation profiling protocol to detect somatic mutations in 30 genes found frequently in lung adenocarcinoma. The total length of the target regions is 107 kb, and a capture assay was designed to cover 99% of it. This method exhibited about 97% mean coverage at 30x sequencing depth and 42% average specificity when sequencing of more than 3.25 Gb was carried out for the normal sample. We discovered 513 variations from targeted exome sequencing of lung cancer cells, which is 3.9-fold higher than in the normal sample. The variations in cancer cells included previously reported somatic mutations in the COSMIC database, such as variations in TP53, KRAS, and STK11 of sample H-23 and in EGFR of sample H-1650, especially with more than 1,000x coverage. Among the somatic mutations, up to 91% of single nucleotide polymorphisms from the two cancer samples were validated by DNA microarray-based genotyping. Our results demonstrated the feasibility of high-throughput mutation profiling with lung adenocarcinoma samples, and the profiling method can be used as a robust and effective protocol for somatic variant screening.

Adenocarcinoma , DNA , Exoma , Sequenciamento de Nucleotídeos em Larga Escala , Pulmão , Neoplasias Pulmonares , Programas de Rastreamento , Polimorfismo de Nucleotídeo Único , Sensibilidade e Especificidade
Genomics & Informatics ; : 181-188, 2011.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-73131


In planning a model-based phylogenic study for highly related ethnic data, the SNP marker number is an important factor to determine for relationship inferences. Genotype frequency data, utilizing a sub sampling method, from 63 Pan Asian ethnic groups was used for determining the minimum SNP number required to establish such relationships. Bootstrap random sub-samplings were done from 5.6K PASNPi SNP data. DA distance was calculated and neighbour-joining trees were drawn with every re-sampling data set. Consensus trees were made with the same 100 sub-samples and bootstrap proportions were calculated. The tree consistency to the one obtained from the whole marker set, improved with increasing marker numbers. The bootstrap proportions became reliable when more than 7,000 SNPs were used at a time. Within highly related ethnic groups, the minimum SNPs number for a robust neighbor-joining tree inference was about 7,000 for a 95% bootstrap support.

Grupo com Ancestrais do Continente Asiático , Consenso , Grupos Étnicos , Genótipo , Humanos , Filogenia , Polimorfismo de Nucleotídeo Único