Genetičko savjetovanje i testiranje na nasljedni rak dojke i jajnika

master's thesis

• Title (english): Genetic counselling and testing for hereditary breast and ovarian cancer
• Author: Dora Šercar
• Mentor: Ljiljana Šerman (mentor)
• Committee member: Tamara Nikuševa Martić (predsjednik povjerenstva)
• Committee member: Natalija Dedić Plavetić (član povjerenstva)
• Committee member: Ljiljana Šerman (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Medical Biology); Zagreb
• Defense date and country: 2018-07-13, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Basic Medical Sciences; Human Genetics, Genomics and Proteomics
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Oncology

Abstract

Genetičko savjetovanje je komunikacijski proces koji pomaže pojedincu razumijeti i prilagoditi se medicinskim, psihološkim i obiteljskim posljedicama genetičkog doprinosa bolesti. Ovaj proces obuhvaća tumačenje osobne i obiteljske anamneze kako bi se procijenile mogućnosti pojave ili ponavljanja genetičkih bolesti. Temelji se na edukaciji o nasljeđivanju, testiranju, praćenju i prevenciji bolesti. Genetičko testiranje, odnosno laboratorijska analiza, dio je genetičkog savjetovanja koji slijedi nakon pomno prikupljenih podataka i pripreme. Iako nisu svi slučajevi povezani s mutacijama u tim genima, nasljedni karcinom dojke i jajnika najčešće povezujemo s mutacijama gena BRCA1 i BRCA2 gena. Prepoznavanje osoba s nasljednom predispozcijom za rak najčešće se temelji na pažljivoj obiteljskoj anamnezi koja bilježi prisutnost ili odsutnost istih ili sličnih vrsta raka u članova iste obitelji. Glavna svrha probira pojedinca koji imaju rizik za obolijevanje od obiteljskog raka jest prevencija i rana detekcija raka.

Abstract (english)

Genetic counselling is a communication process which provides an individual to understand and adapt to psychological and family implications of genetic contribution to disease. The process includes explanations of personal and family anamnesis in order to estimate the possibilities of appearance and relapse of disease. It has been based on the education of heritance, testing, managing and prevention of disease. Genetic testing, which is laboratory testing, is a part of genetic counselling that follows after gathered data and preparation. Although not all the cases are in relation with mutation in those genes, hereditary breast and ovarian cancer is mostly connected to BRCA1 and BRCA2 genes. Identification of cancer hereditary predisposition is mostly based on thorough family anamnesis which counts for existence or absence of the same or similar types of cancer within the members of the same family. The main purpose of choosing those individuals with a family cancer risk is cancer prevention and early cancer detection.

• Keywords: genetičko savjetovanje; genetičko testiranje; nasljedni rak dojke i jajnika
• Keywords (english): genetic counselling; genetic testing; hereditary breast and ovarian cancer
• Language: croatian
• URN:NBN: urn:nbn:hr:105:947885
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2019-01-02 09:18:44