Recessive Mutations in Cancer Predisposition and Progression
Cancer is widely considered to represent the phenotypic manifestation of the accumulation of genetic damage1, and this notion is the subject of much of the present volume. There is a great deal of circumstantial evidence in its support which arises from examination of human populations2. There has been, for example, extensive documentation of familial aggregation of specific histological types of tumors, sometimes developing with the formal behaviour of an autosomal dominant Mendelian trait. At the level of cytogenetics, various chromosomal aberrations of the germline appear to result in increased propensities for the development of tumors. Tumors often have specific chromosomal rearrangements and, sometimes, such aberrations resemble those which, when inherited, predispose to similar disease.
KeywordsRecessive Mutation Malignancy Grade Restriction Fragment Length Polymorphism Marker Chromosome Region 13q14 High Malignancy Grade
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