A5091623593- BRCA gene mutations in cancer
- DNA Repair Mechanisms
- Genetic factors in colorectal cancer
- CRISPR and Genetic Engineering
- Cancer Genomics and Diagnostics
- Microtubule and mitosis dynamics
- Cancer-related Molecular Pathways
- Colorectal Cancer Treatments and Studies
- Nutrition, Genetics, and Disease
- NF-κB Signaling Pathways
- Gene expression and cancer classification
- Genomic variations and chromosomal abnormalities
- PARP inhibition in cancer therapy
- Cell death mechanisms and regulation
- Genetics, Bioinformatics, and Biomedical Research
- Breast Cancer Treatment Studies
- Genetic Associations and Epidemiology
- Synthesis and Biological Evaluation
- Cancer therapeutics and mechanisms
- Synthesis and Reactions of Organic Compounds
- Immunotherapy and Immune Responses
- Synthesis of heterocyclic compounds
- Genomics and Rare Diseases
- Protein Kinase Regulation and GTPase Signaling
- Synthesis and Reactivity of Heterocycles
University of Tsukuba
2023-2025
The Cancer Institute Hospital
2004-2024
Japanese Foundation For Cancer Research
2013-2024
Shiga University of Medical Science
2024
Tokyo Medical and Dental University
2014-2023
Nagoya University Hospital
2021
Cancer Institute (WIA)
1992-2014
Medical Research Institute
2007-2014
Koto Hospital
2014
Tohoku University
2013
A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods. Probable predisposing mutations have detected in five of eight kindreds presumed segregate alleles. The include an 11-base pair deletion, a 1-base insertion, stop codon, missense substitution, inferred regulatory mutation. gene is expressed numerous tissues, including ovary, encodes predicted protein 1863 amino acids. This contains...
Recent studies suggest that one or more genes on chromosome 5q21 are important for the development of colorectal cancers, particularly those associated with familial adenomatous polyposis (FAP). To facilitate identification from this locus, a portion region is tightly linked to FAP was cloned. Six contiguous stretches sequence (contigs) containing approximately 5.5 Mb DNA were isolated. Subclones these contigs used identify and position six genes, all which expressed in normal colonic...
Previous studies suggested that one or more genes on chromosome 5q21 are responsible for the inheritance of familial adenomatous polyposis (FAP) and Gardner's syndrome (GS), contribute to tumor development in patients with noninherited forms colorectal cancer. Two tightly linked FAP (MCC APC) were found be somatically altered tumors from sporadic cancer patients. One (APC) was also by point mutation germ line GS These data suggest than gene may neoplasia, mutations APC can cause both GS. The...
Loss of heterozygosity data from familial tumors suggest that BRCA1 , a gene confers susceptibility to ovarian and early-onset breast cancer, encodes tumor suppressor. The region is also subject allelic loss in sporadic cancers, an indication mutations may occur somatically these tumors. coding was examined for primary show allele at the locus. Mutations were detected 3 32 1 12 carcinomas; all four germline alterations occurred cancers. These results mutation not be critical development...
We examined somatic mutations of the adenomatous polyposis coil (APC) gene in 63 colorectal tumors (16 adenomas and 47 carcinomas) developed familial (FAP) non-FAP patients. In addition to loss heterozygosity (LOH) at APC locus 30 tumors, 43 other were detected. Twenty-one them point mutations; 16 nonsense two missense mutations, three occurred introns splicing site. Twenty-two had frameshift due deletion or insertion; nineteen deletions one 31 bp a 1-bp insertion. One tumor an intron near...
Pathogenic variants in highly penetrant genes are useful for the diagnosis, therapy, and surveillance hereditary breast cancer. Large-scale studies needed to inform future testing variant classification processes Japanese. We performed a case-control association study coding regions of 11 cancer 7051 unselected patients 11,241 female controls Japanese ancestry. Here, we identify 244 germline pathogenic variants. found 5.7% patients, ranging from 15% women diagnosed <40 years 3.2% ≥80 years,...
Hypothesis:There have been few reports on the minimum surgical margins (SMs) required for successful liver resection in patients with colorectal metastases.This requirement may be narrower than previously recommended margin of 10 mm.Objectives: To identify by assessing presence micrometastases around tumor using genetic and histological techniques, to investigate whether SMs are associated patterns recurrence or patient survival.Design: Prospective retrospective studies.Setting: Tertiary...
To implement personalized medicine, we established a large-scale patient cohort, BioBank Japan, in 2003. Japan contains DNA, serum, and clinical information derived from approximately 200,000 patients with 47 diseases. Serum were collected annually until 2012.We analyzed of participants at enrollment, including age, sex, body mass index, hypertension, smoking drinking status, across diseases, compared the results Japanese database on Patient Survey National Health Nutrition Survey. We...
Dysregulation of the G(1)/S transition in cell cycle contributes to tumor development. The oncogenic transcription factors c-Jun and c-Myc are indispensable regulators at this transition, their aberrant expression is associated with many malignancies. Degradation c-Jun/c-Myc a critical process for which initiated upon phosphorylation by glycogen synthase kinase 3 β (GSK3β). However, specific or kinases responsible priming events that precede GSK3β modification has not been definitively...
Whole-exome sequencing (Exome-seq) has been successfully applied in several recent studies. We here sequenced the exomes of 15 pancreatic tumor cell lines and their matched normal samples. captured 162,073 exons 16,954 genes targeted regions to a mean coverage 56-fold. This study identified total 1517 somatic mutations validated 934 by transcriptome sequencing. detected recurrent 56 genes. Among them, 41 have not described. The mutation rates varied widely among lines. diversity was...
Members of the RAS superfamily small guanosine triphosphatases (GTPases) transition between GDP-bound, inactive and GTP-bound, active states thereby function as binary switches in regulation various cellular activities. Whereas HRAS, NRAS, KRAS frequently acquire transforming missense mutations human cancer, little is known oncogenic roles other GTPases, including Ras-related C3 botulinum toxin substrate (RAC) proteins. We show that sarcoma cell line HT1080 harbors both NRAS(Q61K) RAC1(N92I)...