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259 results on '"Krajc, Mateja"'

1. A Population-Based Study of Patients With Small Cell Carcinoma of the Ovary, Hypercalcemic Type, Encompassing a 30-Year Period

Author

Blatnik, Ana, Dragos, Vita Setrajcic, Blatnik, Olga, Stegel, Vida, Klancar, Gasper, Novakovic, Srdjan, Drev, Primoz, Zagar, Tina, Merlo, Sebastjan, Skof, Erik, Bojadziski, Mirjana Pavlova, Strojnik, Ksenija, and Krajc, Mateja

Subjects
Medical research -- Analysis, Medicine, Experimental -- Analysis, Immunohistochemistry -- Analysis, Ipilimumab -- Analysis, Medical records -- Analysis, Immunotherapy -- Analysis, Ethylenediaminetetraacetic acid -- Analysis, Carcinoma -- Analysis, Cancer -- Analysis, Genetic screening -- Analysis, Health
Abstract

* Context.--Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare and lethal tumor, characterized by hypercalcemia and early onset and associated with germline and somatic SMARCA4 variants. Objective.--To identify all known cases of SCCOHT in the Slovenian population from 1991 to 2021 and present genetic testing results, histopathologic findings, and clinical data for these patients. We also estimate the incidence of SCCOHT. Design.--We conducted a retrospective analysis of hospital medical records and data from the Slovenian Cancer Registry in order to identify cases of SCCOHT and obtain relevant clinical data. Histopathologic review of tumor samples with assessment of immunohistochemical staining for SMARCA4/BRG1 was undertaken to confirm the diagnosis of SCCOHT. Germline and somatic genetic analyses were performed using targeted next-generation sequencing. Results.--Between 1991 and 2021, we identified 7 cases of SCCOHT in a population of 2 million. Genetic causes were determined in all cases. Two novel germline loss-of-function variants in SMARCA4 LRG_878t1:c.1423_1429delTACCTCA p.(Tyr475Ilefs*24) and LRG_878t1: c.3216-1G>T were identified. At diagnosis, patients were ages 21 to 41 and had International Federation of Gynecology and Obstetrics, or FIGO, stage IA-III disease. Outcomes were poor, with 6 of 7 patients dying of disease-related complications within 27 months from diagnosis. One patient had stable disease for 12 months while receiving immunotherapy. Conclusions.--We present genetic, histopathologic, and clinical characteristics for all cases of SCCOHT identified in the Slovenian population during a 30-year period. We report 2 novel germline SMARCA4 variants, possibly associated with high penetrance. We estimate the minimal incidence of SCCOHT to be 0.12 per 1 million per year., Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a very rare and devastatingly lethal tumor, first defined by Scully (1) in 1979 and described in more detail by [...]

Published
2024
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2. Breast cancer risk assessment and risk distribution in 3,491 Slovenian women invited for screening at the age of 50; a population-based cross-sectional study

Author

Jarm Katja, Zadnik Vesna, Birk Mojca, Vrhovec Milos, Hertl Kristijana, Klanecek Zan, Studen Andrej, Sval Cveto, and Krajc Mateja

Subjects
breast cancer screening, personalised screening, risk assessment, ibis, tyrer-cuzick model, breast density, Medical physics. Medical radiology. Nuclear medicine, R895-920
Abstract

The evidence shows that risk-based strategy could be implemented to avoid unnecessary harm in mammography screening for breast cancer (BC) using age-only criterium. Our study aimed at identifying the uptake of Slovenian women to the BC risk assessment invitation and assessing the number of screening mammographies in case of risk-based screening.

Published
2023
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7. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

Author

Garcia-Pelaez, José, Barbosa-Matos, Rita, Lobo, Silvana, Dias, Alexandre, Garrido, Luzia, Castedo, Sérgio, Sousa, Sónia, Pinheiro, Hugo, Sousa, Liliana, Monteiro, Rita, Maqueda, Joaquin J, Fernandes, Susana, Carneiro, Fátima, Pinto, Nádia, Lemos, Carolina, Pinto, Carla, Teixeira, Manuel R, Aretz, Stefan, Bajalica-Lagercrantz, Svetlana, Balmaña, Judith, Blatnik, Ana, Benusiglio, Patrick R, Blanluet, Maud, Bours, Vincent, Brems, Hilde, Brunet, Joan, Calistri, Daniele, Capellá, Gabriel, Carrera, Sergio, Colas, Chrystelle, Dahan, Karin, de Putter, Robin, Desseignés, Camille, Domínguez-Garrido, Elena, Egas, Conceição, Evans, D Gareth, Feret, Damien, Fewings, Eleanor, Fitzgerald, Rebecca C, Coulet, Florence, Garcia-Barcina, María, Genuardi, Maurizio, Golmard, Lisa, Hackmann, Karl, Hanson, Helen, Holinski-Feder, Elke, Hüneburg, Robert, Krajc, Mateja, Lagerstedt-Robinson, Kristina, Lázaro, Conxi, Ligtenberg, Marjolijn J L, Martínez-Bouzas, Cristina, Merino, Sonia, Michils, Geneviève, Novaković, Srdjan, Patiño-García, Ana, Ranzani, Guglielmina Nadia, Schröck, Evelin, Silva, Inês, Silveira, Catarina, Soto, José L, Spier, Isabel, Steinke-Lange, Verena, Tedaldi, Gianluca, Tejada, María-Isabel, Woodward, Emma R, Tischkowitz, Marc, Hoogerbrugge, Nicoline, and Oliveira, Carla

Published
2023
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8. Genetic counselling legislation and practice in cancer in EU Member States.

Author

McCrary, J Matt, Valckenborgh, Els Van, Poirel, Hélène A, Putter, Robin de, Rooij, Jeroen van, Horgan, Denis, Dierks, Marie-Luise, Antonova, Olga, Brunet, Joan, Chirita-Emandi, Adela, Colas, Chrystelle, Dalmas, Miriam, Ehrencrona, Hans, Grima, Claire, Janavičius, Ramūnas, Klink, Barbara, Koczok, Katalin, Krajc, Mateja, Lace, Baiba, and Leitsalu, Liis

Subjects
GENETIC counseling laws, TUMOR genetics, HEALTH insurance reimbursement, RESEARCH funding, INTERVIEWING, GENETIC variation, RESEARCH methodology, GENETIC counselors, DATA analysis software, LABOR supply
Abstract

Background Somatic and germline genetic alterations are significant drivers of cancer. Increasing integration of new technologies which profile these alterations requires timely, equitable and high-quality genetic counselling to facilitate accurate diagnoses and informed decision-making by patients and their families in preventive and clinical settings. This article aims to provide an overview of genetic counselling legislation and practice across European Union (EU) Member States to serve as a foundation for future European recommendations and action. Methods National legislative databases of all 27 Member States were searched using terms relevant to genetic counselling, translated as appropriate. Interviews with relevant experts from each Member State were conducted to validate legislative search results and provide detailed insights into genetic counselling practice in each country. Results Genetic counselling is included in national legislative documents of 22 of 27 Member States, with substantial variation in legal mechanisms and prescribed details (i.e. the 'who, what, when and where' of counselling). Practice is similarly varied. Workforce capacity (25 of 27 Member States) and genetic literacy (all Member States) were common reported barriers. Recognition and/or better integration of genetic counsellors and updated legislation and were most commonly noted as the 'most important change' which would improve practice. Conclusions This review highlights substantial variability in genetic counselling across EU Member States, as well as common barriers notwithstanding this variation. Future recommendations and action should focus on addressing literacy and capacity challenges through legislative, regulatory and/or strategic approaches at EU, national, regional and/or local levels. [ABSTRACT FROM AUTHOR]

Published
2024
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9. Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe

Author

Patócs, Attila Balázs, Chappuis, Pierre, Colas, Chrystelle, Genuardi, Maurizio, Haanpää, Maria, Vetti, Hildegunn Hoberg, Hoogerbrugge, Nicoline, Irmejs, Arvids, Kahre, Tiina, Klink, Barbara, Krajc, Mateja, Milagre, Tamara Hussong, de Putter, Robin, Steinke-Lange, Verena, Wadt, Karin, Wimmer, Katharina, Marmolejo, David Humberto, Wong, Mark Yu Zheng, Bajalica-Lagercrantz, Svetlana, Tischkowitz, Marc, and Balmaña, Judith

Published
2021
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13. Screening strategy modification based on personalized breast cancer risk stratification and its implementation in the national guidelines – pilot study

Author

Krajc Mateja, Gareth Evans D, Blatnik Ana, Lokar Katarina, Žagar Tina, Tomšič Sonja, Žgajnar Janez, and Zadnik Vesna

Subjects
tyrer-cuzick model, breast cancer risk assessment, personalized breast cancer screening, breast cancer, tyrer-cuzickov model, ocena ogroženosti za raka dojk, individualizirano presejanje za raka dojk, rak dojk, Public aspects of medicine, RA1-1270
Abstract

One of the most consistent models for estimating personalized breast cancer (BC) risk is the Tyrer-Cuzick algorithm that is incorporated into the International Breast Cancer Intervention Study (IBIS) software. Our main objective was to provide criteria for the classification of the Slovenian population, which has BC incidence below the European average, into risk groups, and to evaluate the integration of the criteria in Slovenian guidelines. Our main focus was on women age

Published
2020
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14. Breast cancer risk based on adapted IBIS prediction model in Slovenian women aged 40–49 years - could it be better?

Author

Oblak Tjasa, Zadnik Vesna, Krajc Mateja, Lokar Katarina, and Zgajnar Janez

Subjects
breast cancer, early detection, risk prediction model, tailored screening, Medical physics. Medical radiology. Nuclear medicine, R895-920
Abstract

The aim of the study was to assess the proportion of women that would be classified as at above-average risk of breast cancer based on the 10 year-risk prediction of the Slovenian breast cancer incidence rate (S-IBIS) program in two presumably above-average breast cancer risk populations in age group 40-49 years: (i) women referred for any reason to diagnostic breast centres and (ii) women who were diagnosed with breast cancer aged 40–49 years. Breast cancer is the commonest female cancer in Slovenia, with an incidence rate below European average. The Tyrer-Cuzick breast cancer risk assessment algorithm was recently adapted to S-IBIS. In Slovenia a tailored mammographic screening for women at above average risk in age group 40–49 years is considered in the future. S-IBIS is a possible tool to select population at above-average risk of breast cancer for tailored screening.

Published
2020
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15. The prevalence of occult ovarian cancer in the series of 155 consequently operated high risk asymptomatic patients – Slovenian population based study

Author

Gornjec Andreja, Merlo Sebastijan, Novakovic Srdjan, Stegel Vida, Gazic Barbara, Perhavec Andraz, Blatnik Ana, and Krajc Mateja

Subjects
risk-reducing salpingo-oophorectomy (rrso), occult serous cancer, serous tubal intraepithelial cancer (stic), brca1/2 pathogenic or likely pathogenic variant, Medical physics. Medical radiology. Nuclear medicine, R895-920
Abstract

We assessed the prevalence, localization, type and outcome of occult cancer at risk-reducing salpingo-oophorectomy or salpingectomy (RRSO) in asymptomatic carriers of pathogenic or likely pathogenic BRCA1/2 variants and high-risk BRCA1/2 negative women.

Published
2020
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17. Interval cancers after negative immunochemical test compared to screen and non-responders’ detected cancers in Slovenian colorectal cancer screening programme

Author

Mlakar Dominika Novak, Bric Tatjana Kofol, Škrjanec Ana Lucija, and Krajc Mateja

Subjects
colorectal cancer screening, faecal immunochemical test, interval cancer, screen detected cancer, cancer in non-responders, test sensitivity, Medical physics. Medical radiology. Nuclear medicine, R895-920
Abstract

We assessed the incidence and characteristics of interval cancers after faecal immunochemical occult blood test and calculated the test sensitivity in Slovenian colorectal cancer screening programme.

Published
2018
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19. Uncertainty estimation for deep learning-based pectoral muscle segmentation via Monte Carlo dropout

Author

Klanecek, Zan, primary, Wagner, Tobias, additional, Wang, Yao-Kuan, additional, Cockmartin, Lesley, additional, Marshall, Nicholas, additional, Schott, Brayden, additional, Deatsch, Ali, additional, Studen, Andrej, additional, Hertl, Kristijana, additional, Jarm, Katja, additional, Krajc, Mateja, additional, Vrhovec, Miloš, additional, Bosmans, Hilde, additional, and Jeraj, Robert, additional

Published
2023
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20. Dedni rak telesa maternice

Author

Strojnik, Ksenija, Blatnik, Ana, and Krajc, Mateja

Subjects
ginekološki raki, ginekološka onkologija, rak maternice, udc:618.1
Abstract

Tudi genetski dejavniki imajo vlogo pri nagnjenosti k razvoju raka telesa maternice. Najpogosteje se pojavlja v sklopu dednega sindroma Lynch (približno 3 % vseh bolnic z rakom telesa maternice). Pri vseh bolnicah s karcinomom endometrija se zato opravlja presejanje za sindrom Lynch, in sicer z imunohistokemičnim barvanjem za izražanje beljakovin popravljanja neujemanja in/ali z določanjem mikrosatelitne nestabilnosti iz primarnega tumorja. Pri vseh je tudi zelo pomembno natančno preveriti družinsko in osebno anamnezo drugih malignih ali benignih tumorjev. Na ta način aktivno iščemo tiste, ki imajo večjo verjetnost, da so nosilke genetskih okvar, povezanih z dedno obliko raka telesa maternice. Te potrebujejo napotitev in obravnavo pri kliničnem genetiku. V Ambulanti za onkološko genetsko svetovanje Onkološkega inštituta Ljubljana obravnava teh bolnic in njihovih svojcev poteka v okviru multidisciplinarne obravnave. Nosilci podedovanih genskih okvar lahko na podlagi genetskega izvida informirano soodločajo o preventivnih ukrepih glede na njihovo ogroženost za rake, ki so povezani v določen dedni sindrom.

Published
2023

22. Genetic counselling, BRCA1/2 status and clinico-pathologic characteristics of patients with ovarian cancer before 50 years of age

Author

Cvelbar Mirjam, Hocevar Marko, Novakovic Srdjan, Stegel Vida, Perhavec Andraz, and Krajc Mateja

Subjects
ovarian cancer, brca1/2 gene, genetic counselling, Medical physics. Medical radiology. Nuclear medicine, R895-920
Abstract

In Slovenia like in other countries, till recently, personal history of epithelial ovarian cancer (EOC) has not been included among indications for genetic counselling. Recent studies reported up to 17% rate of germinal BRCA1/2 mutation (gBRCA1/2m) within the age group under 50 years at diagnosis. The original aim of this study was to invite to the genetic counselling still living patients with EOC under 45 years, to offer gBRCA1/2m testing and to perform analysis of gBRCA1/2m rate and of clinico-pathologic characteristics. Later, we added also the data of previously genetically tested patients with EOC aged 45 to 49 years.

Published
2017
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27. Dedni dejavniki, povezani z rakom prostate

Author

Krajc, Mateja, Blatnik, Ana, and Strojnik, Ksenija

Subjects
udc:616.6, dednost, genetika, rak prostate
Abstract

Rak prostate je najpogostejši rak pri moških tako v svetu kot tudi v Sloveniji. Najpomembnejši nevarnostni dejavniki za raka prostate so starost, etnična pripadnost in družinska anamneza raka prostate. Rak prostate se lahko pojavlja v sklopu različnih dednih sindromov, kot sta npr. sindrom dednega raka dojk in/ ali jajčnikov in sindrom Lynch. Moških z rakom prostate in pozitivno družinsko anamnezo rakavih obolenj ne testiramo le zato, da bi ocenili njihovo ogroženost za razvoj drugih rakov v sklopu dednega sindroma. Zaradi razvoja specifičnih zdravil je izvid genetskega testiranja lahko pri njih pomemben tudi za načrtovanje zdravljenja. Zadnjih nekaj let smo priča hitremu razvoju genetskih testiranj za zarodne patogene in verjetno patogene različice v genih, ki visoko in zmerno ogrožajo za raka prostate in lahko napovedujejo agresivnost bolezni in odziv na specifično zdravljenje. Obenem se uveljavlja tudi genetsko testiranje vzorcev tumorske DNA, ki zazna tako zarodne kot pridobljene, t. i. somatske patogene različice, vpletene v proces kancerogeneze. Genetski izvid je pomemben tudi za krvne sorodnike testiranih. Če je v določenem genu prisotna zarodna patogena različica, je možno odkrivanje nosilcev te okvare tudi med ostalimi sorodniki. Zdravim nosilcem lahko tako omogočimo njim prilagojene presejalne programe za rake, za katere so lahko visoko ali zmerno ogroženi.

Published
2023

30. Klinična genetika in rak dojk

Author

Krajc, Mateja

Subjects
udc:616-07, rak dojk, onkologija, diagnostika
Abstract

V primeru dedovanja visoko penetrantnih zarodnih patogenih različic (PR) v določenih genih se lahko močno poveča ogroženost, da bo posameznik zbolel za rakom. Prepoznavanje nosilcev zarodnih okvar je zato zelo pomembno. Vključimo jih lahko namreč v učinkovite presejalne programe za visoko ogrožene. Že leta 1999 smo se na Onkološkem inštitutu Ljubljana (OI) tega zavedali in tako kmalu po odkritju prvih genov, ki jih povezujemo z večjo ogroženostjo za raka dojk, genov BRCA1 in BRCA2, omogočili slovenskim družinam genetsko svetovanje in testiranje po najvišjih možnih standardih kakovosti. V sklopu multidisciplinarne obravnave smo tako v 23 letih dejavnosti genetski posvet in test omogočili več kot 11.000 posameznikom, največ, več kot 90 % vseh, prav s področja dednega raka dojk in jajčnikov. Dejavnost smo razširili tudi na druge dedne sindrome za raka in se umestili v sam evropski vrh kot evropski referenčni center za redke bolezni – v mrežo za dedne rake. Od 2019 vodimo državni register testiranih, obremenjenih z dednim rakom, in naše bolnike vključujemo v domače in mednarodne raziskave. Nenehno preverjamo in optimiziramo kakovost dela in s tem skrbimo za varno obravnavo bolnikov.

Published
2022

31. Program DORA – od začetkov do evropsko prepoznanega presejalnega programa za raka dojk

Author

Hertl, Kristijana, Krajc, Mateja, Jarm, Katja, and Kurir-Borovčić, Mateja

Subjects
preventivni programi, udc:614, rak dojke, javno zdravje
Abstract

V Sloveniji od leta 2008 deluje Državni presejalni program za raka dojk DORA, začetki za izvajanje programa pa segajo v leto 2003. Leta 2007 so na Zdravstvenem svetu sprejeli predlog organiziranega in centralizirano vodenega presejalnega programa, v katerem so ženske vabljene na mamografijo v specializiranih presejalnih centrih in po potrebi opravljajo dodatno diagnostiko v dveh presejalno-diagnostičnih centrih. Program DORA se je postopno širil po državi, od začetne širitve v ljubljanski in mariborski regiji (2010–2013), do končne širitve po celi državi (2014–2018). V programu DORA so ženske v starosti 50–69 let vsaki dve leti pisno povabljene na presejalni pregled z mamografijo, ki omogoča odkrivanje še netipnih sprememb v dojki. Ob sumljivih spremembah na mamografiji so ženske vabljenje na nadaljnjo obravnavo, če je odkrit rak dojk, pa tudi na zdravljenje. Od 2018 v okviru programa deluje 22 mamografov v 16 stacionarnih in 3 mobilnih presejalnih enotah ter dva presejalno-diagnostična centra za nadaljnjo obravnavo žensk in zdravljenje v presejanju odkritih rakov. Program DORA deluje v skladu z visokimi standardi evropskih smernic kakovosti in zagotavlja enako obravnavo za vse udeleženke v katerikoli presejalni enoti v Sloveniji. Cilj presejalnega programa je ob vsaj 70-odstotni udeležbi žensk doseči znižanje umrljivosti za rakom dojk v ciljni populaciji za 25–30 %. Program s 74-odstotno udeležbo v zadnjih desetih letih letno opravi več kot 110.000 mamografij in odkrije okrog 650 primerov raka dojk. Zaradi svoje organizacije, informacijske podpore, izobraževalnih in komunikacijskih aktivnosti ter strokovnega nadzora vseh korakov presejanja je evropski primer dobre prakse presejalnega programa.

Published
2022

32. Recommendations for diagnosis, treatment and follow-up of patients with ovarian cancer, fallopian tube cancer and primary peritoneal cancer

Author

Kovačević, Nina, Šegedin, Barbara, Merlo, Sebastjan, Bebar, Sonja, Blatnik, Ana, Cokan, Andrej, Cvjetičanin, Branko, Fokter Dovnik, Nina, Gazič, Barbara, Grčar Kuzmanov, Biljana, Gregorič, Brigita, Horvat, Matej, Janša, Vid, Knez, Jure, Kobal, Borut, Kobav, Manja, Krajc, Mateja, Krajec, Maja, Lasič, Mateja, Novaković, Srdjan, Pakiž, Maja, Ravnik, Maja, Smrkolj, Špela, Strojnik, Ksenija, Škof, Erik, Takač, Iztok, Vivod, Gregor, Zadnik, Vesna, and Zobec Logar, Barbara Helena

Abstract

no abstract., Onkologija : a medical-scientific journal, Vol. 26 No. 2 (2022)

Published
2022
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36. Risk of Peritoneal Carcinomatosis After Risk-Reducing Salpingo-Oophorectomy: A Systematic Review and Individual Patient Data Meta-Analysis

Author

Steenbeek, Miranda P., primary, van Bommel, Majke H.D., additional, Bulten, Johan, additional, Hulsmann, Julia A., additional, Bogaerts, Joep, additional, Garcia, Christine, additional, Cun, Han T., additional, Lu, Karen H., additional, van Beekhuizen, Heleen J., additional, Minig, Lucas, additional, Gaarenstroom, Katja N., additional, Nobbenhuis, Marielle, additional, Krajc, Mateja, additional, Rudaitis, Vilius, additional, Norquist, Barbara M., additional, Swisher, Elizabeth M., additional, Mourits, Marian J.E., additional, Massuger, Leon F.A.G., additional, Hoogerbrugge, Nicoline, additional, Hermens, Rosella P.M.G., additional, IntHout, Joanna, additional, and de Hullu, Joanne A., additional

Published
2022
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38. A study on the impact of parameter settings on the biological reproducibility and sensitivity of extracted radiomic features from full field digital mammography images

Author

Klanecek, Zan, primary, Wagner, Tobias, additional, Wang, Yao-Kuan ., additional, Cockmartin, Lesley, additional, Hertl, Kristijana, additional, Jarm, Katja, additional, Krajc, Mateja, additional, Marshall, Nicholas, additional, Studen, Andrej, additional, Vrhovec, Miloš, additional, Bosmans, Hilde, additional, and Jeraj, Robert, additional

Published
2022
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39. Real-World Data on Detection of Germline and Somatic Pathogenic/Likely Pathogenic Variants in BRCA1/2 and Other Susceptibility Genes in Ovarian Cancer Patients Using Next Generation Sequencing

Author

Stegel, Vida, primary, Blatnik, Ana, additional, Škof, Erik, additional, Dragoš, Vita Šetrajčič, additional, Krajc, Mateja, additional, Gregorič, Brigita, additional, Škerl, Petra, additional, Strojnik, Ksenija, additional, Klančar, Gašper, additional, Banjac, Marta, additional, Žgajnar, Janez, additional, Ravnik, Maja, additional, and Novaković, Srdjan, additional

Published
2022
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40. Priporočila Onkološkega inštituta za zdravljenje bolnikov z adenokarcinomom želodca

Author

Brecelj, Erik, Zadnik, Vesna, Volk, Neva, Krajc, Mateja, Blatnik, Ana, Strojnik, Ksenija, Boc, Nina, Hunt, Yasmin Marianna, Gašljević, Gorana, Jeruc, Jera, Novaković, Srdjan, Boc, Marko, Anderluh, Franc, Reberšek, Martina, Štabuc, Borut, Oblak, Irena, Ocvirk, Janja, Jeromen, Ana, Hlebanja, Zvezdana, Mesti, Tanja, Ignjatović, Marija, Hribernik, Nežka, Edhemović, Ibrahim, Pilko, Gašper, Petrič, Rok, Šečerov Ermenc, Ajra, Rotovnik-Kozjek, Nada, Velenik, Vaneja, Kramer, Sonja, Ebert Moltara, Maja, and Benedik, Jernej

Subjects
prebavni trakt, adenokarcinom želodca, priporočila, multidisciplinarno zdravljenje, udc:616.3
Published
2021

41. Predsimptomatsko genetsko testiranje za dedni sindrom raka dojk in/ali jajčnikov

Author

Babuder, Barbara, Hotujec, Simona, Blatnik, Ana, Strojnik, Ksenija, Banjac, Marta, Novakovi��, Srdjan, and Krajc, Mateja

Subjects
dedni sindrom raka dojk in jajčnikov, udc:616-07, krvni sorodniki, BRCA 1, BRCA1/2, HBOC, krvni sorodnik, genetsko testiranje, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, kaskadno testiranje, RC254-282
Abstract

Izhodi����e: Kaskadno testiranje je testiranje svojcev prvega dokazanega nosilca patogene razli��ice/verjetno patogene razli��ice (PR/VPR) dolo��enega gena v dru��ini. Uspe��nost preventive rakavih bolezni v dru��ini, v kateri je ugotovljena PR/VPR, je odvisna od identifikacije tistih krvnih sorodnikov, ki so prav tako nosilci dru��inske genetske okvare, pa sami ��e niso zboleli. ��tevilo krvnih sorodnikov iz dru��in z dednim sindromom za raka dojk in/ali jaj��nikov (HBOC), ki se v sklopu obravnave na Onkolo��kem in��titutu Ljubljana (OIL) odlo��ijo za predsimptomatsko svetovanje in testiranje po novoodkriti PR/VPR v dru��ini, je trenutno neznano. Namen: Namen raziskave je bil ugotoviti ��tevilo krvnih sorodnikov, ki so se odlo��ili za predsimptomatsko testiranje, ko je bila v dru��ini dokazana PR/VPR v genu BRCA1 in/ali BRCA2, in analizirati njihove zna��ilnosti. Metode: Analizirali smo podatke, ki smo jih pridobili iz podatkovne zbirke Oddelka za onkolo��ko klini��no genetiko OIL med letoma 1999 in 2020, o testiranih in njihovih dru��inskih ��lanih. Uporabili smo deskriptivne statisti��ne metode. Rezultati: Med 5158 napotenimi dru��inami s sumom na HBOC smo odkrili 785 BRCA1 in BRCA2 pozitivnih, kar pomeni 15,2 %. Od vseh 785 pozitivnih dru��in se pri 27 % (212/785) dru��in za genetsko svetovanje ��e ni odlo��il nih��e od svojcev. V dru��inah, kjer so se svojci odlo��ili za posvet (573 dru��in), se jih je 79 % oglasilo v prvih 12 mesecih od razkritja pozitivnega rezultata prvemu testiranemu. V teh 573 dru��inah se je skupno 1731 oseb odlo��ilo za predsimptomatsko testiranje, od tega je bilo 80,3 % ��ensk. Povpre��no ��tevilo krvnih sorodnikov, ki so se med letoma 1999 in 2020 odlo��ili za predsimptomatsko svetovanje in testiranje, je dva (2,21) na dru��ino. ��e od��tejemo dru��ine, v katerih se ni javil nih��e od svojcev, pa so se javili povpre��no trije (3,02) svojci na dru��ino, torej so poleg nosilca dru��ine na posvet pri��li vsaj ��e trije. Zaklju��ek: Kaskadno testiranje je uspe��en na��in ugotavljanja nosilcev PR/VPR v dru��ini in v populaciji. Trenutno je edini dokazano uspe��en na��in, s katerim lahko zdravim, bolj ogro��enim posameznikom omogo��imo preventivne ukrepe prepre��evanja in zgodnjega odkrivanja raka, s ��imer dokazano podalj��ujemo ��ivljenja. Mo��nost za odlo��itev o preventivnih ukrepih bi morali tako imeti vsi krvni sorodniki ob pozitivnem rezultatu prvega testiranega. Treba bo raziskati, zakaj se pri slabi tretjini pozitivnih dru��in ni javil noben dru��inski ��lan in kako lahko ��e izbolj��amo klini��ne poti, da bi pove��ali odziv svojcev., Onkologija : strokovno-znanstveni ��asopis za zdravnike, Vol. 25 No. 2 (2021)

Published
2021

42. Recommendations from the Institute of Oncology Ljubljana for the treatment of patients with gastric cancer

Author

Brecelj, Erik, Zadnik, Vesna, Volk, Neva, Krajc, Mateja, Blatnik, Ana, Strojnik, Ksenija, Boc, Nina, Hunt, Marianna Yasmin, Ga��ljevi��, Gorana, Jeruc, Jera, Novakovi��, Srdjan, Boc, Marko, Anderluh, Franc, Reber��ek, Martina, ��tabuc, Borut, Oblak, Irena, Ocvirk, Janja, Jeromen Peressutti, Ana, Hlebanja, Zvezdana, Mesti, Tanja, Ignjatovi��, Marija, Hribernik, Ne��ka, Edhemovi��, Ibrahim, Pilko, Ga��per, Petri��, Rok, ��e��erov Ermenc, Ajra, Rotovnik Kozjek, Nada, Velenik, Vaneja, Kramer, Sonja, Ebert Moltara, Maja, and Benedik, Jernej

Subjects
gastric cancer, recommendations, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, cancer patients, RC254-282
Abstract

No abstract., Onkologija : a medical-scientific journal, Vol. 25 No. 2 (2021)

Published
2021

43. Analysis of the referral trend in ovarian cancer patients who need genetic assessment for treatment planning and presentation of new clinical pathways

Author

Novak, Svetlana, Hotujec, Simona, Strojnik, Ksenija, Blatnik, Ana, Škof, Erik, Ravnik-Oblak, Maja, Novaković, Srdjan, and Krajc, Mateja

Subjects
udc:616-07, prednostna napotitev, BRCA1/2, epitelijski nemucinozni rak jajcevodov, epitelijski nemucinozni rak jajčnikov, genetsko testiranje, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, primarni peritonealni serozni karcinom/PPSC, RC254-282
Abstract

Izhodi����e: Zadnjih nekaj let se v genetskih ambulantah soo��amo s pogostej��imi napotitvami bolnikov z rakom na genetsko obravnavo. Izvid genetskega testiranja je namre�� pri bolnicah z epitelijskim nemucinoznim rakom jaj��nikov/jajcevodov/primarnim peritonealnim seroznim karcinomom (PPSC) in bolnikih z metastatskim rakom prostate/pankreasa/dojk lahko zelo pomemben za na��rtovanje zdravljenja z zaviralci poli(ADP-riboza)-polimeraze (PARP). Ker se z obravnavo obi��ajno mudi, smo izdelali dve klini��ni poti, ki omogo��ita tem bolnikom prednostno obravnavo. Namen: Namen raziskave je bil ugotoviti, ali se ��tevilo prednostnih napotitev pri bolnikih z rakom, ki potrebujejo genetski izvid za na��rtovanje zdravljenja, s ��asom spreminja. Na primeru raka jaj��nikov smo ��eleli oceniti stopnjo odkrivanja patogenih razli��ic/verjetno patogenih razli��ic (PR/VPR) v pregledovanih genih in raziskati razlike med nosilkami genetskih okvar in tistimi, ki zarodnih PR/VPR nimajo. Metode: Na Oddelku za onkolo��ko klini��no genetiko na Onkolo��kem in��titutu Ljubljana (OIL) smo opravili analizo podatkov o ��tevilu vseh prednostnih napotitev na genetsko svetovanje in testiranje od leta 2016 do leta 2020. Analizirali smo tudi podatke vseh napotenih bolnic z epitelijskim nemucinoznim rakom jaj��nikov/jajcevodov/PPSC, ki so bile testirane med letoma 2016 in 2020. Za analizo podatkov smo uporabili program MS Excel, Joinpoint Regression in IBM SPSS. Rezultati: Raziskava je pokazala, da ��tevilo prednostnih napotitev bolnikov, ki potrebujejo genetski izvid za na��rtovanje zdravljenja, z leti nara����a. Napotitve bolnic z epitelijskim nemucinoznim rakom jaj��nikov/jajcevodov/PPSC so za��ele nara����ati marca 2019 s trendom 7,7-odstotnega letnega prirastka. Od vseh 772 bolnic z epitelijskim nemucinoznim rakom jaj��nikov/jajcevodov/PPSC, napotenih med letoma 2016 in 2020, smo testirali 735 ��ensk in pri 206 (28 %) odkrili PR/VPR v panelu pregledovanih genov. Stopnja detekcije PR/VPR, gledano le za gena BRCA1/2, je 23-odstotna. Med vsemi diagnosticiranimi PR/VPR predstavljajo okvare na genih BRCA1/2 83 % vseh najdb. ��enske, ki so nosilke PR/VPR, v povpre��ju zbolijo v starosti 56,4 leta in zbolijo povpre��no 4,4 leta prej kot nenosilke (p < 0,001). V preteklosti, torej pred uvedbo testiranja za zdravljenje, 26,5 % nosilk z negativno dru��insko anamnezo ne bi zaznali, saj so smernice testiranje priporo��ale le pri bolnicah s pozitivno dru��insko anamnezo. Zaklju��ek: Pri��ujo��a analiza potrjuje pomen prednostnega genetskega presejanja bolnikov, ki potrebujejo izvid za na��rtovanje zdravljenja. Nove klini��ne poti, ki jih opisujemo v ��lanku, omogo��ajo hitro in kakovostno obravnavo ter pravo��asno in strokovno predajo rezultatov. Prav tako pri bolnikih z rakom omogo��ajo informirano odlo��anje o genetskem testiranju in soodlo��anje o preventivnih ukrepih pri njihovih krvnih sorodnikih., Onkologija : strokovno-znanstveni ��asopis za zdravnike, Vol. 25 No. 2 (2021)

Published
2021

44. Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe

Author

Marmolejo, David Humberto, primary, Wong, Mark Yu Zheng, additional, Bajalica-Lagercrantz, Svetlana, additional, Tischkowitz, Marc, additional, Balmaña, Judith, additional, Patócs, Attila Balázs, additional, Chappuis, Pierre, additional, Colas, Chrystelle, additional, Genuardi, Maurizio, additional, Haanpää, Maria, additional, Vetti, Hildegunn Hoberg, additional, Hoogerbrugge, Nicoline, additional, Irmejs, Arvids, additional, Kahre, Tiina, additional, Klink, Barbara, additional, Krajc, Mateja, additional, Milagre, Tamara Hussong, additional, de Putter, Robin, additional, Steinke-Lange, Verena, additional, Wadt, Karin, additional, and Wimmer, Katharina, additional

Published
2021
Full Text
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46. Quality assured implementation of the Slovenian breast cancer screening programme

Author

Jarm, Katja, primary, Kadivec, Maksimiljan, additional, Šval, Cveto, additional, Hertl, Kristijana, additional, Primic Žakelj, Maja, additional, Dean, Peter B., additional, von Karsa, Lawrence, additional, Žgajnar, Janez, additional, Gazić, Barbara, additional, Kutnar, Veronika, additional, Zdešar, Urban, additional, Kurir Borovčić, Mateja, additional, Zadnik, Vesna, additional, Josipović, Igor, additional, and Krajc, Mateja, additional

Published
2021
Full Text
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49. Uvodnik

Author

Krajc, Mateja

Subjects
covid-19, obvladovanje raka, javno zdravje, udc:614.2
Published
2021

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