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Phacomatoses, the inheritance of cancer, and somatic mutation
Author(s) -
Nicholls E. M.
Publication year - 1970
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1970.tb02245.x
Subject(s) - loss of heterozygosity , somatic cell , biology , genetics , mutation , germline mutation , cancer , mitosis , mitotic crossover , cancer research , inheritance (genetic algorithm) , gene , allele
There are many hereditary conditions in which benign or malignant tumour formation occurs as a principal feature. Two of these conditions are recessively inherited and in each case the lesions observed may be explained in terms of current knowledge of the action of the genes. The other conditions are all dominantly inherited, affect specific cell types, and have many general similarities. They include at least three of the phacomatoses as originally defined, and this term by extended to cover all such conditions. The theory that neoplastic lesions in these conditions are an effect of heterozygosity is discussed. The heterozygosity is believed to lead to the establishment of clones of cells which will undergo sequential somatic mutations. Selection for increased mitotic rate or cell survival within these clones will lead to benign or malignant tumour formation.