[Cancer genetic counseling as it pertains to gynaecologic oncology: general considerations in hereditary tumors].
One of the most remarkable discoveries during the last two decades is that cancer is a genetic disease, which develops in a stepwise fashion including many gene mutations. The nature of hereditary tumours has also been elucidated, with recognised inherited germline gene mutations predisposing cancer development. These are called cancer susceptibility gene mutations and mostly involve tumour suppressor genes, occasionally oncogenes, genes of the apoptosis pathway and DNA repair. As a result, cancer genetic counselling centres have been established with the objectives of identifying persons at high-risk for cancer development. In addition, activities of these centres may involve applied genetics, mostly in research setting. The major steps in cancer genetic counselling in terms of hereditary tumours include: 1. identifying at risk patients, e.g. gene mutation carriers, 2. proper counselling with full information regarding the benefits and disadvantages of DNA testing, and 3. preventive measures including screening, early detection and prophylactic surgery, drug treatment etc. In this review, the natural history and clinical characteristics of hereditary tumours are outlined, as well as, the major considerations of cancer genetic counselling are discussed.
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Fovárosi Szent István Kórház, Nogyógyászati Osztály, Rákgenetikai Tanácsadó, Budapest. bosze@axelero.hu
D000223:Adaptation, Psychological; D003376:Counseling; D042241:Early Diagnosis; D005260:Female; D020022:Genetic Predisposition to Disease; D005833:Genital Neoplasms, Female / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control / Q000523:psychology; D006801:Humans; D012731:Sex Counseling