Specialised Genetic Counselling in Hereditary Forms of Malignancy

Overview

Five to ten percent of oncological diseases exhibit monogenic mode of inheritance. They occure as a consequenceof the germline mutations of tumor supressor genes and of the genes engaged in reparative processes. Most commonmonogenically determined oncological diseases are: AD form of breast and ovarian cancer, hereditary nonpolyposiscolorectal cancer (HNPCC, Lynch sy.) and familiar adenomatous polyposis (FAP). The aim of the geneticinvestigation is to evaluate whether the index family deals with the hereditary form of tumor predisposition, than, ifpossible, to perform DNA analysis in the family and to propose preventive screening program (methods) for theprobands in risk.

Key words:
hereditary tumor predisposition, DNA analysis, predictive testing, prevention.