小児がん臨床遺伝学とがん家系症候群

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  • Clinical Genetics of Childhood Cancer and the Cancer Family Syndrome.

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Although cancer is a rare entity in children, the clinical genetics of childhood cancer continues to make great contribution to the progress of clinical and fundamental cancer research of adults as well as children. The early work of Dr. Robert Miller and his colleagues in NCI on birth defects associated with childhood cancer suggested that human mutagenesis, carcinogenesis and teratogenesis should be studied as a whole to better understand the origin of childhood neoplasia (not just malignancy). Then, chromosomal abnormalities found in lymphocytes from cancer patients with associated congenital abnormalities have given clues to find the gene locus of each cancer. From clinical observation of patients with retinoblastoma in which familial aggregation is seen with a dominant pattern of inheritance, Knudson proposed the “two hit theory” and this led to the discovery of tumor suppressor genes proved by Cavenee from loss of heterozygosity in retinoblastoma tumor cells using RFLP markers. Since then, hereditary cancer has been considered to be inherited by germline mutation of certain tumor suppressor genes. In 1990, germline p53 point mutation was first reported in families with Li-Fraumeni family cancer syndrome characterized by dominantly inherited increased likelihood of developing various neoplasms at an early age in multiple family members. We found novel germline p53 mutations in two Japanese cancer-prone families. This review summarizes the epidemiology and molecular biology relating to the identification of cancer predisposition and discusses various problems of predictive testing for inherited mutation in cancer susceptibility genes.

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