Smjernice za genetičko savjetovanje i testiranje na nasljedni rak dojke i jajnika

Professional paper - Professional paper

• Title (english): Guidelines for genetic counselling and testing for hereditary breast and ovarian cancer
• Author: Ana Borovečki
• Author: Marijana Braš
• Author: Boris Brkljačić
• Author: Nina Canki-Klain
• Author: Natalija Dedić Plavetić
• Author: Blaženka Grahovac
• Author: Herman Haller
• Author: Nataša Jokić-Begić
• Author: Iva Kirac
• Author: Sonja Levanat
• Author: Višnja Matković
• Author: Paula Podolski
• Author: Ilona Sušac
• Author: Mario Šekerija
• Author: Ljiljana Šerman
• Author: Marina Šprem Goldštajn
• Author: Rado Žic
• Author: Tamara Žigman
• Author's institution: University of Zagreb; School of Medicine
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences

Abstract (english)

The last few decades have witnessed a great progress in feasibility and clinical utilization of genetic testing for hereditary cancers. Hereditary breast and ovarian cancers are most often the result of BRCA1 and BRCA2 gene mutations. In these guidelines we have covered: the criteria for referral of patients to genetic counselling and testing; the criteria for referral of healthy family members to predictive testing in the event when there is no possibility of testing the patient; the process of genetic counselling before and after testing; test results, their categories and risk levels; recommendations for monitoring of individuals with an increased risk; chemoprevention and prophylactic surgery for carriers of BRCA1 and BRCA2 gene mutations; preservation of reproductive function in women with breast cancer and in carriers of BRCA mutations; and informed consent for genetic testing. The guidelines are intended for all specialists who are in any way involved in the care of patients with hereditary breast and ovarian cancer, and are compiled by the working group according to the data from the relevant medical literature and from clinical experience of the members of the working group.

Abstract (croatian)

Tijekom posljednjih desetljeća svjedoci smo velikog napretka u izvedivosti i kliničkoj iskoristivosti genetičkog testiranja kod nasljednih karcinoma. Nasljedni karcinomi dojke i jajnika najčešće su posljedica mutacija u genima BRCA1 i BRCA2. Ovim smjernicama obuhvatili smo kriterije za upućivanje pacijenata na genetičko savjetovanje i testiranje; kriterije za upućivanje zdravih pojedinaca na prediktivno testiranje ako nije moguće testiranje oboljelog člana obitelji; postupak genetičkog savjetovanja prije i nakon testiranja; nalaz testiranja, kategorije nalaza i razine rizika; preporuke za daljnje praćenje osoba s povišenim rizikom; kemoprevenciju i profilaktičku kirurgiju kod nositelja/-ica patogenih mutacija gena BRCA 1 i BRCA 2; očuvanje reproduktivne funkcije u žena oboljelih od raka dojke i nositeljica mutacija BRCA i pristanak informiranog bolesnika na genetičko testiranje. Smjernice su namijenjene svim specijalistima koji su na bilo koji način uključeni u zbrinjavanje oboljelih od nasljednih karcinoma dojke i jajnika, a sastavila ih je radna skupina prema podacima iz relevantne medicinske literature te kliničkim iskustvima članova radne skupine.

• Language: croatian
• Publication type: Professional paper - Professional paper
• Publication status: Published
• Peer review: Peer review
• Publication version: Published version
• Journal title: Liječnički vjesnik
• Numbering: vol. 139, no. 5-6, pp. 107-117
• p-ISSN: 0024-3477
• URN:NBN: urn:nbn:hr:105:287026
• Publication: 2017-05
• Document URL: https://hrcak.srce.hr/file/276132
• Type of resource: Text
• Access conditions: Open access
• Created on: 2024-03-28 09:40:51