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TP53, MSH4, and LATS1 Germline Mutations in a Family with Clustering of Nervous System Tumors
Kim, Y.H.,Ohta, T.,Oh, J.E.,Le Calvez-Kelm, F.,McKay, J.,Voegele, C.,Durand, G.,Mittelbronn, M.,Kleihues, P.,Paulus, W.,Ohgaki, H. American Association of Pathologists and Bacteriol 2014 The American journal of pathology Vol.184 No.9
Exome DNA sequencing of blood samples from a Li-Fraumeni family with a TP53 germline mutation (codon 236 deletion) and multiple nervous system tumors revealed additional germline mutations. Missense mutations in the MSH4 DNA repair gene (c.2480T>A; p.I827N) were detected in three patients with gliomas (two anaplastic astrocytomas, two glioblastomas). Two family members without a TP53 germline mutation who developed peripheral schwannomas also carried the MSH4 germline mutation, and in addition, a germline mutation of the LATS1 gene (c.286C>T; p.R96W). LATS1 is a downstream mediator of the NF2, but has not previously been found to be related to schwannomas. We therefore screened the entire coding sequence of the LATS1 gene in 65 sporadic schwannomas, 12 neurofibroma/schwannoma hybrid tumors, and 4 cases of schwannomatosis. We only found a single base deletion at codon 827 (exon 5) in a spinal schwannoma, leading to a stop at codon 835 (c.2480delG; p.*R827Kfs*8). Mutational loss of LATS1 function may thus play a role in some inherited schwannomas, but only exceptionally in sporadic schwannomas. This is the first study reporting a germline MSH4 mutation. Since it was present in all patients, it may have contributed to the subsequent acquisition of TP53 and LATS1 germline mutations.
Study of Neutron Capture Reactions Using the 4π Ge Spectrometer
H. Harada,S. Goko,A. Kimura,M. Ohta,M. Oshima,F. Kitatani,M. Igashira,T. Katabuchi,M. Mizumoto,T. Ohsaki,J. Hori,T. Fujii,K. Takamiya,J. Goto,Y. Kiyanagi,K. Kino,M. Furusaka,F. Hiraga,T. Kamiyama 한국물리학회 2011 THE JOURNAL OF THE KOREAN PHYSICAL SOCIETY Vol.59 No.23
The 4π Ge spectrometer composed of 22-30 Ge detectors was developed, and it has been used to study neutron capture reactions with a neutron time-of-flight (TOF) technique. Since the distances between the sample position and the Ge detectors are variable, it can be used as a multifunctional spectrometer. At first, it was used as a sum energy spectrometer, and resonances in ^(nat)Ag were identified as those of ^(1070Ag or ^(109)Ag. In second, it was used to deduce γ-ray intensity distribution for each resonance, and the results for ^(238)U were presented. In third, it was used to measure neutron capture cross sections of minor actinides and fission products at the electron linear accerelator facility of KURRI and at the accurate neutron-nucleus reaction measurement instrument (ANNRI) in MLF of J-PARC The preliminary results are discussed mainly based on measurements of neutron capture cross section for ^(241)Am, together with related techniques.
Measurements of Neutron-Capture Cross Sections of Palladium Isotopes at the J-PARC/MLF/ANNRI
S. Nakamura,K. Furutaka,S. Goko,H. Harada,A. Kimura,T. Kin,F. Kitatani,M. Koizumi,M. Ohta,M. Oshima,Y. Toh,J. Hori,T. Fujii,S. Fukutani,K. Takamiya,M. Igashira,T. Katabuchi,M. Mizumoto,T. Kamiyama,K. 한국물리학회 2011 THE JOURNAL OF THE KOREAN PHYSICAL SOCIETY Vol.59 No.23
The operation of a new experimental apparatus called ``Accurate Neutron-Nucleus Reaction measurement Instrument (ANNRI)''in the Material and Life science experimental Facility (MLF) at the Japan Proton Accelerator Research Complex (J-PARC) has been started for neutroncapture crosssection measurements of minor actinides and long-lived fission products. As a part of the measurements, we have measured the time-of-flight spectra of palladium-105, 106, 107 and 108 with a ``4π Ge spectrometer'' installed at the ANNRI. We obtained preliminary results of the cross sections for palladium-107 and 105 in neutron energies ranging from 0.1 eV to 300 eV.
Measurements of Neutron-Capture Cross Sections of ^(244)Cm and ^(246)Cm at J-PARC/MLF/ANNRI
A. Kimura,K. Furutaka,S. Goko,H. Harada,T. Kin,F. Kitatani,M. Koizumi,S. Nakamura,M. Ohta,M. Oshima,Y. Toh,T. Fujii,S. Fukutani,J. Hori,K. Takamiya,M. Igashira,T. Katabuchi,M. Mizumoto,T. Kamiyama,K. 한국물리학회 2011 THE JOURNAL OF THE KOREAN PHYSICAL SOCIETY Vol.59 No.23
For developments of innovative nuclear reactors, strong demands exist for the improvement of the accuracy of the neutroncapture cross sections of minor actinides (MAs) and long-lived fission products. We have constructed a Ge-spectrometer using the Accurate Neutron-Nucleus Reaction measurement Instrument (ANNRI) in the J-PARC materials and life science experimental facility (MLF). Preliminary neutroncapture cross sections of ^(244)Cm and ^(246)Cm were obtained in the neutron energy range from 1.0 eV up to 300 eV.
T. Kin,K. Furutaka,S. Goko,H. Harada,A. Kimura,F. Kitatani,S. Nakamura,M. Ohta,M. Oshima,Y. Toh,J. Hori,M. Igashira,T. Katabuchi,M. Koizumi,M. Mizumoto,T. Kamiyama,K. Kino,Y. Kiyanagi 한국물리학회 2011 THE JOURNAL OF THE KOREAN PHYSICAL SOCIETY Vol.59 No.23
A ``4π germanium spectrometer'' was developed for measurements of neutron capture cross sections of minor actinides and long-lived fission products. It was installed on the Beam Line No. 04 of the Materials and Life Science Experimental Facility of the Japan Proton Accelerator Research Complex. The time-of-flight method is used to measure the cross sections. To obtain characteristics of the spectrometer, a measurement was done of prompt gamma rays emitted following neutron capture reactions of gold whose cross section was well studied. In the present paper, we show the procedure of analysis of the data obtained with the spectrometer and discuss the characteristics to measure neutron capture cross section.
J. Hori,K. Furutaka,S. Goko,H. Harada,A. Kimura,T. Kin,F. Kitatani,M. Koizumi,S. Nakamura,M. Ohta,M. Oshima,Y. Toh,M. Igashira,T. Katabuchi,M. Mizumoto,T. Kamiyama,K. Kino,Y. Kiyanagi 한국물리학회 2011 THE JOURNAL OF THE KOREAN PHYSICAL SOCIETY Vol.59 No.23
The prompt gamma rays from the neutron capture reactions by ^(91)Zr and ^(96)Zr were measured. A neutron time-of-flight (TOF) method was adopted with a 4π Ge spectrometer installed at the Accurate Neutron-Nucleus Reaction measurement Instrument (ANNRI) in the J-PARC Material and Life science experimental Facility (MLF). The gamma-ray pulse-height spectra corresponding to the 292-eV resonance of ^(91)Zr and the 301-eV resonance of ^(96)Zr were obtained by gating on the TOF regions, respectively. The relative intensities of those transitions were derived. Moreover, we have demonstrated the nuclide discrimination technique by identifying ^(91)Zr resonances (isotopic composition of 5.3%) in the measurement of ^(96)Zr sample This technique can be applicable to the neutron capture measurement for a small amount of sample expected in case of long-lived fission products (LLFPs) such as ^(93)Zr.