title: The Japan Society of Human Genetics award lecture. Cytogenetic aspects of cancer-predisposing genes.
abstract: Some human monogenic syndromes are characterized by a high cancer propensity, and provide a pathway to the understanding of genetic origin of human cancers. In this review, cytogenetic insights into the Fanconi's anemia (FA) and retinoblastoma (RB) genes have been presented as the model for recessively and dominantly transmitted cancer-predisposing genes, respectively. Some recessively transmitted genes are unequivocally associated with abnormalities in DNA metabolisms and homozygosity increases the genome instability, and some dominantly inherited genes are categorized into loss-of-function mutation of tumor suppressing genes. While the identified syndromes themselves are uncommon and constitute a minor fraction in population, the heterozygote expression of recessive genes is our major concern of genetic predisposition to cancer, and mutation of tumor suppressing genes, identified as somatic mutation, plays a crucial role in the development of a variety of common cancers. Moreover, their possible non-Mendelian inheritance of mutational susceptibility leads us to an even more rewarding area of cancer genetics.
authors.forename: M S
authors.initials: MS
authors.lastname: Sasaki
mesh_terms: D005134:Eye Neoplasms / Q000235:genetics; D005199:Fanconi Anemia / Q000235:genetics; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000235:genetics*; D009857:Oncogenes; D012175:Retinoblastoma / Q000235:genetics