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Clinical genetics and breast cancer

By Gorazd Rudolf and Borut Peterlin

Abstract

Geneti čki čimbenici već su dugo poznati kao važni rizični čimbenici kod raka dojke. Procjenjuje se da je oko 5 do 10 % slučajeva raka dojke posljedica monogenske geneti čke predispozicije. U medicinskoj obradi raka dojke važno je prepoznati one žene i obitelji kod kojih postoji velika mogućnost monogenske geneti čke predispozicije, kako bi im se omogućila primjerena genetička i klinička obrada. Naime, osobama s visokim rizikom može se ponuditi mogućnost otkrivanja genetičkim testom (dijagnosti čko ili presimptomatsko testiranje) i drugačiju razinu medicinske obrade u smislu rane prevencije i liječenja u usporedbi s općom populacijom.It is known that geneti c factors play an important role as risk factors in breast cancer. 5 to 10% of breast cancer is of monogenetic predispositi on. In the process of clinical evaluati on of pati ents with breast cancer it is very importnat to identify those pati ents with high probability of having cancer predisposing mutati ons and to provide them relevant and professional genetic and clinical management. This can lead to the identification of genetic etiology of breast cancer and allow earlier and more efficient prevention, screening and treatment of breast cancer

Topics: BRCA1; BRCA2; genetičko savjetovanje; genetičko testi ranje; rak dojke, BRCA1; BRCA2; breast cancer; DNA testing; genetic counseling
Publisher: Croatian Medical Association, Branch Rijeka
Year: 2010
OAI identifier: oai:hrcak.srce.hr:53166

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