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Title:Določanje mutacij v genih brca1/2 iz citološkega materiala pri raku jajčnikov, jajcevodov in primarnem peritonealnem seroznem karcinomu
Authors:ID Gornjec, Andreja (Author)
ID Hočevar, Marko (Comentor)
ID Škof, Erik (Mentor) More about this mentor... New window
Files:.pdf DOK_Gornjec_Andreja_2020.pdf (2,11 MB)
MD5: A467764783A1956C92AE8A55B4FB5507
PID: 20.500.12556/dkum/2cae6d80-9168-4b45-a621-79d4baf8905f
 
Language:Slovenian
Work type:Doctoral dissertation
Typology:2.08 - Doctoral Dissertation
Organization:MF - Faculty of Medicine
Abstract:Izhodišče Serozni rak jajčnikov je slabo ozdravljiva bolezen. Zdravljenje ponovitve bolezni je odvisno od prisotnosti BRCA1/2 mutacije, kajti samo bolnice z znano BRCA mutacijo so upravičene do zdravljenja s poli(ADP-riboza) polimeraze inhibitorji (PARPi). Namen raziskave je bil primerjava skladnosti rezultatov analize BRCA mutacij iz citoloških vzorcev (CV) v primerjavi z rezultati določanja BRCA mutacij iz histoloških s formalinom fiksiranih v parrafinu vključenih (FFPE) vzorcev. Preiskovanke in metode dela Analiza BRCA mutacij je bila narejena pri 44 bolnicah s primarnim ali ponovnim seroznim rakom visokega gradusa iz treh vzorcev: krvi, citološkega vzorca (ascites, plevralni izliv in povečana bezgavka) in iz tumorskega tkiva. Narejena je bila primerjava rezultatov vseh treh vzorcev. Rezultati Med 44 bolnicami smo dokazali 15 zarodnih in 2 somatski mutaciji. Dokazana je bila 100 skladnost rezultatov pridobljenih iz citoloških vzorcev v primerjavi z rezultati dobljenimi iz histoloških vzorcev. Zaključek Dokazali smo 100% skladnost dobljenih rezultatov določanja BRCA mutacij iz citoloških vzorcev v primerjavi z rezultati dobljenimi iz histoloških vzorcev. Pri bolnicah z rakom jajčnikov bi lahko testiranje BRCA mutacij iz CV nadomestilo testiranje BRCA mutacij iz FFPE tkiva.
Keywords:visoko maligni serozni rak jajčnikov, BRCA1/2 mutacija, testiranje BRCA mutacij, citološki vzorec
Place of publishing:Maribor
Year of publishing:2020
PID:20.500.12556/DKUM-73473 New window
COBISS.SI-ID:22760195 New window
NUK URN:URN:SI:UM:DK:NXZT9I2U
Publication date in DKUM:16.07.2020
Views:1282
Downloads:87
Metadata:XML DC-XML DC-RDF
Categories:MF
:
GORNJEC, Andreja, 2020, Določanje mutacij v genih brca1/2 iz citološkega materiala pri raku jajčnikov, jajcevodov in primarnem peritonealnem seroznem karcinomu [online]. Doctoral dissertation. Maribor. [Accessed 25 March 2025]. Retrieved from: https://dk.um.si/IzpisGradiva.php?lang=eng&id=73473
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Licences

License:CC BY-NC-ND 4.0, Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
Link:http://creativecommons.org/licenses/by-nc-nd/4.0/
Description:The most restrictive Creative Commons license. This only allows people to download and share the work for no commercial gain and for no other purposes.
Licensing start date:24.04.2019

Secondary language

Language:English
Title:BRCA1/2 mutation testing from cytological samples in patients with ovarian, tubal and primary peritoneal serous cancer
Abstract:Background High-grade serous ovarian cancer is a detrimental disease. Treatment options in patients with a recurrent disease are dependent on BRCA1/2 mutation status since only patients with known BRCA mutation are eligible for treatment with poly(ADP-ribose) polymerase inhibitors (PARPi). The aim of this study was to compare concordance of BRCA mutation analyses from cytological samples (CS) with BRCA mutation analyses from histological formalin fixed paraffin embedded (FFPE) samples. Patients and methods Mutation analysis of BRCA1 and BRCA2 genes was performed in 44 women diagnosed with primary or recurrent high-grade ovarian cancer from three different samples: blood, cytological sample (ascites, pleural effusion and enlarged lymph nodes) and tumor tissue. Results from all three samples were compared. Results Among 44 patients, there were 15 germline mutations and two somatic mutations. A 100% concordance was found between cytological and histologic samples. Conclusion There is a 100% concordance in BRCA mutation testing between cytological and histologic samples. BRCA mutation testing from CS could replace testing from FFPE tissue in clinical decision making in ovarian cancer patients.
Keywords:high-grade serous cancer, BRCA1/2 mutation, BRCA1/2 mutation testing, cytological samples


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