JOURNAL OF FAMILIAL TUMORS
Online ISSN : 2189-6674
Print ISSN : 1346-1052
Volume 3 , Issue 1
Showing 1-12 articles out of 12 articles from the selected issue
  • Norihiro Kato, Takehiko Sasazuki
    2003 Volume 3 Issue 1 Pages 26-29
    Published: 2003
    Released: December 08, 2018
    JOURNALS OPEN ACCESS
    A number of leading investigators in Japan have participated in the National Project of Medical Genomics, the so-called ″the Millennium Project″, since April 2000. As for common diseases, such as diabetes, hypertension, cancer, dementia, and allergic disorders, a nation-wide consortium has been organized to perform comprehensive approaches to individual diseases. In concert with ongoing research projects compiling SNPs and microsatellite information, Japanese investigators are planning to perform genome-wide scanning with 100,000 SNPs and 30,000 microsatellites in a case­control study design. Because a number of issues remain to be resolved (e.g., statistical power and significance levels to declare association), a symposium, named ″Hakone-yama symposium″ was held in last November 2001 to discuss practical strategies and ways to avoid the pitfalls of random screening with authorities in the relevant fields. The arguments include: (1) efficient study designs and statistical analysis, (2) lessons from distinguished achievements in the genetics of multifactorial diseases, and (3) a research trend towards the ″post-sequencing era″ .
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  • [in Japanese], [in Japanese], [in Japanese], [in Japanese], [in Japane ...
    2003 Volume 3 Issue 1 Pages 30-33
    Published: 2003
    Released: December 08, 2018
    JOURNALS OPEN ACCESS
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  • Toshiyuki Kobayashi, Okio Hino
    2003 Volume 3 Issue 1 Pages 34-39
    Published: 2003
    Released: December 08, 2018
    JOURNALS OPEN ACCESS
    Two disease determining genes, TSCJ and TSC2, have been identified for tuberous sclerosis. Both TSC I and TSC2 have a role as tumor suppressors. Products of these two genes (hamartin and tuberin) fo1·m a complex to function, although its precise physiological activity has not been determined. During the past year, negative regulation of the p70 ribosomal S6 kinase by hamartin and tuberin through the mammalian target of rapamycin (mTOR) has been reported. Including the link between signal transduction associated with S6 kinase activity and tumor development, the molecular mechanism of pathogenesis of tuberous sclerelosis and function of hamartin and tuberin will be elucidated.
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  • Yoshio Nukaga, Joji Utsunomiya
    2003 Volume 3 Issue 1 Pages 40-44
    Published: 2003
    Released: December 08, 2018
    JOURNALS OPEN ACCESS
    This study reviews the development of family registries and identifies the current conditions of the infrastructure for familial colon cancer registries in the United States and Japan. The research focuses on the different courses of development and organization of family registries in the two settings. The methodology is based on content analysis of historical and interview data. The findings show that family registries in the United States have developed through cooperative work that includes not only the National Cancer lnstitute's program for cooperative agreement but also three working bodies for multi-research projects with internal regulations. In contrast, Japanese registries have relied on investigator-oriented research funding for specific diseases, leading to fewer common research platforms among different practitioners and fewer systematic procedural regulations and guidelines.
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  • Takeo lwama, Takanobu Satoh, Naoaki Hoshino, Akira Iwasaki, Tadashi Ma ...
    2003 Volume 3 Issue 1 Pages 45-47
    Published: 2003
    Released: December 08, 2018
    JOURNALS OPEN ACCESS
    This report presents a case of Peutz- Jeghers syndrome (PJS) with a large (3 cm) polyp in the ascending colon that was detected by 18F-deoxyglucose positron emission tomography (FDG-PE'r) . Periodic gastrointestinal examination is a considerable stress for patients with PJS because polyps are distributed from the stomach to the rectum. It was revealed for the first time that a large hamartoma of PJS, which is not a cancer, could be detected by FOG­PET. FDG-PET may be a useful tool for detecting large benign polyps associated with PJS.
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  • Mari Wataya-Kaneda, Katsumi Imai, Yoko Hirayama, Okio Hino, Satoshi It ...
    2003 Volume 3 Issue 1 Pages 48-51
    Published: 2003
    Released: December 08, 2018
    JOURNALS OPEN ACCESS
    Tuberous sclerosis complex (TSC) is an autosomal dominant multi-systemic disorder characterized by systemic hamartomas. Two-thirds of cases are sporadic, and new mutations may be involved in the cases. TSC exhibits locus heterogeneity. Two genes responsible for this disease, TSC1 and TSC2, have been identified, and both of them are speculated to be tumor suppressor genes. TSC1 is located on chromosome 9q34 and encodes hamartin. TSC2 is located on 16pl3.3 and encodes tuberin. Although hamartin and tuberin are entirely different from each other, TSCl and TSC2 phenotypes have been considered identical. More than 300 mutations of TSC1 and TSC2 have been reported, and more details of characteristics of TSC1 and TSC2 have been elucidated. Here we report one novel case of TSCl. The patient was a 3-year-old male and had typical tuberous sclerosis symptoms such as seizures, multiple white macules and shagreen patches. Brain MRI demonstrated many cortical tubers and a subependymal nodule. According to the diagnostic criteria for TSC, this case was confirmed to be definite TSC. Genetic investigation of the patient confirmed 2 bp deletion (2110-2111del TA) in exon 17 of TSCl, which has neve1·been reported in TSCl patients.
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