A5101789636- Genetic factors in colorectal cancer
- Cancer Immunotherapy and Biomarkers
- Cancer Genomics and Diagnostics
- Ferroptosis and cancer prognosis
- Colorectal Cancer Screening and Detection
- Lymphoma Diagnosis and Treatment
- Immune cells in cancer
- Immune Cell Function and Interaction
- Colorectal Cancer Treatments and Studies
- Cell Adhesion Molecules Research
- Lung Cancer Treatments and Mutations
- Pancreatic and Hepatic Oncology Research
- Pharmacogenetics and Drug Metabolism
- Cytokine Signaling Pathways and Interactions
- Helicobacter pylori-related gastroenterology studies
- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- interferon and immune responses
- Gastric Cancer Management and Outcomes
- Immunotherapy and Immune Responses
- Multiple and Secondary Primary Cancers
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Epigenetics and DNA Methylation
- Thyroid Cancer Diagnosis and Treatment
- Atherosclerosis and Cardiovascular Diseases
National Cancer Research Institute
1988-2024
National Cancer Center Hospital East
2006-2024
National Cancer Center
2005-2023
Tokyo National Hospital
2023
National Cancer Centre Japan
2007-2021
Tochigi Cancer Center
2016
National Institute of Health Sciences
2006-2009
Japan Clinical Cancer Research Organization
2008
Tokyo Women's Medical University
2006
Fusion genes involving ZNF384 have recently been identified in B-cell precursor acute lymphoblastic leukemia, and 7 fusion partners reported. We further characterized this type of gene by whole transcriptome sequencing and/or polymerase chain reaction. In addition to previously reported genes, we BMP2K as a novel partner for ZNF384. Including the EP300-ZNF384 that recently, total frequency ZNF384-related was 4.1% 291 leukemia patients enrolled single clinical trial, TCF3-ZNF384 most...
The clinical importance of genetic testing BRCA1 and BRCA2 in breast, ovarian, prostate, pancreatic cancers is widely recognized. However, there insufficient evidence to include other cancer types that are potentially associated with management guidelines.To evaluate the association pathogenic variants additional their characteristics 100 914 individuals across 14 types.This case-control analysis identify included DNA samples information from 63 828 patients common 37 086 controls were...
Since June 2019, under the umbrella of national health insurance system, Japan has started cancer genomic medicine (CGM) with comprehensive profiling (CGP) tests. The Ministry Health, Labour and Welfare (MHLW) constructed a network CGM hospitals (a total 233 institutes as July 1, 2022) established Center for Cancer Genomics Advanced Therapeutics (C-CAT), datacenter CGM. Clinical information data from CGP tests are securely transferred to C-CAT, which then generates "C-CAT Findings" reports...
Gemcitabine is rapidly metabolized to its inactive metabolite, 2',2'-difluorodeoxyuridine (dFdU), by cytidine deaminase (CDA). We previously reported that a patient with homozygous 208A alleles of CDA showed severe adverse reactions an increase in gemcitabine plasma level. This study extended the investigation effects genetic polymorphisms on pharmacokinetics and toxicities.Genotyping was performed direct sequencing DNA obtained from peripheral blood Japanese gemcitabine-naïve cancer...
In order to identify single nucleotide polymorphisms (SNPs) and haplotype frequencies of CYP3A4 in a Japanese population, the distal enhancer proximal promoter regions, all exons, surrounding introns were sequenced from genomic DNA 416 subjects. We found 24 SNPs, including 17 novel ones: two enhancer, four promoter, one 5′-untranslated region (UTR), seven introns, three 3′-UTR. The most common SNP was c.1026+12G>A (IVS10+12G>A), with 0.249 frequency. Four non-synonymous c.554C>G (p.T185S,...
Abstract Purpose: Epidermal growth factor receptor (EGFR) mutations, especially deletional mutations in exon 19 (DEL) and L858R, predict gefitinib sensitivity patients with non–small cell lung cancer (NSCLC). In this study, we validated EGFR mutation detection using high-resolution melting analysis (HRMA) evaluated the associations between clinical outcomes advanced NSCLC treated on a larger scale. Experimental Design: The presence of DEL or L858R was HRMA paraffin-embedded tissues and/or...
ObjectiveMagnesium supplementation has been reported to have a nephroprotective effect on cisplatin-induced renal dysfunction, but little evidence exists regarding the of magnesium preloading before cisplatin administration. We started include (8 mEq) in cisplatin-containing treatment regimens January 2011. The aim present study was evaluate whether reduces nephrotoxicity.
Abstract Purpose: Epidermal growth factor receptor (EGFR) mutations, especially in-frame deletions in exon 19 (DEL) and a point mutation 21 (L858R), predict gefitinib sensitivity patients with non–small cell lung cancer (NSCLC). In this study, we verified the accuracy of EGFR analysis small samples by high-resolution melting (HRMA), which is rapid method using PCR amplification dye to analyze curves NSCLC. Experimental Design: We designed prospective study compare specificity HRMA DNA...
Aims Familial adenomatous polyposis ( FAP ) is a hereditary cancer predisposition syndrome caused by germline APC mutation. A recent study showed the enrichment of pyloric gland adenomas PGA s) stomach, in addition to fundic polyps FGP and foveolar‐type FA s), patients with . In present study, we analysed genetic alterations these ‐associated gastric lesions. Methods results Mutational statuses GNAS KRAS , which are frequently mutated sporadic s, as well those were examined s using Sanger...
The cribriform-morula variant of papillary thyroid carcinoma (CMV-PTC) is a rare PTC and associated with familial adenomatous polyposis (FAP). However, the incidence nature CMV-PTC among FAP patients have not been well characterized.The aim this study was to determine characteristics cancer screened by neck ultrasonography for patients. Design, Patients, Intervention: A total 129 were included in study. Neck performed using 12.0-MHz transducer probe. Germline APC gene mutation examined...
ABSTRACT Despite the importance of genetic testing for risk assessment and treatment in breast cancer, prognostic impact germline pathogenic variants (PVs), especially Asian populations, is unclear. We assessed PVs patients with early‐stage cancer. This study included 7278 Japanese multihospital registry patients. ATM , BRCA1 BRCA2 CDH1 CHEK2 NBN NF1 PALB2 PTEN STK11 TP53 were evaluated. PV non‐PV carriers matched by age, histology, stage. Associations between survival assessed. The primary...
To the authors' knowledge, there have been few studies of psychologic distress after disclosure genetic test results for hereditary nonpolyposis colorectal carcinoma (HNPCC). The objectives this study were to identify prevalence rates and predictors evaluate feelings guilt in Japanese probands unaffected relatives.Probands relatives interviewed immediately first counseling session HNPCC again 1 month results. major minor depression, acute stress disorder (ASD), posttraumatic (PTSD), symptoms...
Twelve single nucleotide polymorphisms (SNPs) in the human <i>CES2</i> gene, which encodes a carboxylesterase, hCE-2 [human carboxylesterase 2 (EC 3.1.1.1)], have been reported Japanese [S. R. Kim, T. Nakamura, Y. Saito, K. Sai, Nakajima, H. Shirao, Minami, A. Ohtsu, Yoshida, et al. (2003) <i>Drug Metab Pharmacokinet</i> 18:327–332). In this report, we examined functional alterations of three SNPs, nonsynonymous SNP (100C>T, R34W), an at splice acceptor site intron 8 (IVS8-2A>G), and...
The anticarcinogenic potential of vitamin D might be mediated by not only calcium metabolism but also other mechanisms initiated receptor (VDR). authors measured plasma 25-hydroxyvitamin in healthy volunteer examinees who underwent total colonoscopy Tokyo, Japan, 2004-2005, and evaluated its influence on colorectal adenoma, both alone interaction with VDR polymorphisms, which correspond to the FokI TaqI restriction sites. main analysis included 737 cases 703 controls. Compared lowest...
ObjectiveThe characteristics of familial colorectal cancer type X are poorly defined. Here we aimed to clarify the differences in clinical features between suspected and Lynch syndrome Japanese patients.