Inheritance and genetic of human malignancies.
Journal Title: Postępy Nauk Medycznych - Year 2010, Vol 23, Issue 7
Abstract
Human cancers are caused by genetic and environmental factors. Genetic susceptibility can be divided into monogenic and polygenic predisposition; the risk of cancer development can be defined as “high” or “moderate”. It is estimated that around 30% of all malignancies are caused by “high-risk” genetic predisposition. Depending on the position and type of DNA changes the pattern of inheritance as well as clinical and pedigree characteristics may be different. Pedigrees of monogenic diseases with autosomal dominant inheritance are characterised by occurrence of disorder in all generations (vertical transmission), among men and women, among 50% of the relatives. Such diseases are caused by constitutional mutations of single genes, present in all cells of the body. Evaluation of the pedigree and clinical data of families with aggregations of cancers should exclude phenocopies (accidental malignancy not related to mutation responsible for the aggregation of malignant tumors). In polygenic type of inheritance single individuals can be affected. DNA alterations associated with “moderate” risk are responsible for moderate cancer familial aggregations. Such patomechanism may have significant clinical impact, since moderate cancer familial aggregations are frequent. Associations of “weak” mutations and polymorphisms of many genes and additional influence of environmental factors can significantly increase the risk of cancer development.
Authors and Affiliations
Tadeusz Dębniak, Jan Lubiński
Keywords
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