1994 Fiscal Year Final Research Report Summary
Germline Mutation of Tumor suppressor Genes As an Risk Factor of Carcinogenes
| Project/Area Number |
05454408
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Orthopaedic surgery
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| Research Institution | KYOTO UNIVERSITY |
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Principal Investigator |
KATOURA Yoshihiko Kyoto University Faculty of Medicine Assistant Professor, 医学部, 助教授 (50127081)
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| Co-Investigator(Kenkyū-buntansha) |
TSUBOYAMA Tadao Kyoto University Faculty of Medicine Instructer, 医学部, 助手 (90261221)
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| Project Period (FY) |
1993 – 1994
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| Keywords | Osteosarcoma / p53 gene / germline mutation |
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| Research Abstract |
In thirty-two patients of osteosarcoma suffering before the age of thirty years old, one was revealed to have a germline mutation of p53 gene. This patient was twenty-two years old female presenting a conventional osteosarcoma in her right distal femur. After the disarticulation in the hip joint she was still alive without the sign of recurrence twe years after the treatment. There is no particular cancer predisposition in her family, and her parents and siblings are all healthy except one of her elder sister who died from a accident in her childhood.
The mutation was a base substitution of CGC to CTC in codon 158, which replace leucine for arginine. This amino acid is preserved between species and the same mutation was reported as a somatic mutation in several human tumors including a sarcoma. So, though this mutation has not yet reported as a germline mutation, it seemed to have some responsibility in the development of the osteosarcoma. Because the parents has not studied, their are no knowledge about the origin of the mutation.
The frequency of germline mutations in osteosarcoma patients seen in this study was 3.2% (one in thirty-two) . How to perform such a screening in future and how to deal with the patients with mutations were remained problem.
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