1. Organizacija in analiza obravnav genomskih informatorjev na Onkološkem inštitutu Ljubljana v letu 2023Romana Krivec Matijašič, Tina Kerševan, Mateja Krajc, 2024, original scientific article Abstract: Izhodišče: V Sloveniji je od leta 2021 uveden nov profil v zdravstvu – genomski informator. Genomski informator/svetovalec na Onkološkem inštitutu Ljubljana (OIL) prevzema del genetskih posvetov, ki jih v sklopu triaže opredeli specialist klinične genetike. V veliki meri gre za prednostne napotitve bolnikov z rakom, pri katerih je genetski izvid pomemben za načrtovanje zdravljenja. Metode: Analizirali smo podatke o napotitvah na genetsko obravnavo v letu 2023 in genetskem testiranju bolnikov, ki so jih obravnavali genomski svetovalci. Podatke smo pridobili iz zbirke podatkov Oddelka za onkološko klinično genetiko OIL. Za pripravo analize smo uporabili deskriptivne statistične metode in bivariatne metode za analizo povezanosti spremenljivk. S pomočjo bivariatnih metod smo preučevali povezave med posameznimi spremenljivkami, kot so spol, starost in vrsta genetske obravnave, ter njihovo povezanost z rezultati genetskega testiranja, kar nam je omogočilo vpogled v morebitne vzorce ali odvisnosti med njimi. Rezultati: Leta 2023 so štirje genomski svetovalci od skupno 2200 opravljenih genetskih posvetov pred testiranjem, opravili 669 svetovanj, kar predstavlja 30,4 % vseh. Od 669 obravnavanih pacientov (118 moških in 551 žensk) se jih je 662 odločilo za genetsko testiranje. Glede na stopnjo nujnosti obravnave, ki jo je označil napotni zdravnik, je bilo največ obravnavanih pod prednostno, in sicer 323 (48 %). Genetski izvid smo pri prednostno napotenih v povprečju prejeli v 29 (± 13) dneh od datuma prvega posveta. Pri 14,5 % (96) testiranih pacientih je bila patogena/ verjetno patogena različica (PR/VPR) odkrita v vsaj enem od pregledanih genov. Največ PR/VPR je bilo odkritih v genih BRCA1/2 (57,3 %). Po pogostosti jim sledijo PR/VPR v genu ATM (14,6 %) in genu CHEK2 (10,4 %). Zaključek: Vpeljava diplomiranih medicinskih sester s specialnimi znanji na področju genomskega svetovanja se je izkazala kot učinkovita strategija za zagotavljanje pravočasne genetske obravnave. Medicinske sestre po dodatnem usposabljanju samostojno izvajajo prve genetske posvete, kar je prispevalo k skrajšanju čakalnih dob in hitrejši obravnavi pacientov. Z dodatnimi posveti smo razbremenili specialiste klinične genetike, kar je pripomoglo k hitrejši obravnavi pacientov, ki niso bili napoteni prednostno.
Keywords: genetsko svetovanje, genetsko testiranje, genomsko informiranje
Published in DiRROS: 21.05.2025; Views: 139; Downloads: 47
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2. Kaskadno genetsko testiranje v družinah s sindromom LynchLidija Praprotnik, Simona Hotujec, Barbara Stojanov, Mateja Krajc, 2024, original scientific article Abstract: Izhodišče: Sindrom Lynch (LS) je najpogostejša oblika podedovane genetske predispozicije za raka debelega črevesa in danke (RDČD). Prisotnost LS je posledica zarodne patogene različice/verjetno patogene različice (PR/VPR) v enem od genov popravljanja neujemanja baznih parov (MMR). Ker je LS povezan s povečano ogroženostjo za raka, je pomembno testirati tako posvetovance kot njihove družinske člane (kaskadno testiranje). Metode: Na Oddelku za onkološko klinično genetiko Onkološkega inštituta Ljubljana (OIL) smo opravili analizo podatkov, ki smo jih pridobili iz podatkovne zbirke oddelka. Analizirali smo podatke napotenih na genetsko svetovanje v obdobju od 1. 1. 2007 do 31. 12. 2023, pri katerih je obstajal sum na prisotnost LS. Pri tem smo uporabili deskriptivne statistične metode. Rezultati: Na genetsko svetovanje je bilo zaradi ugotovljene različice v enem od genov, ki jih povezujemo z LS, v 17-letnem obdobju, napotenih 246 posameznikov iz 97 pozitivnih LS družin. Od tega je bilo pozitivnih 170 posameznikov, kar predstavlja 69,1 % vseh testiranih. Kaskadnega testiranja se je udeležilo 157 družinskih članov iz 54 družin (55,7 % glede na vse pozitivne družine), in sicer 100 žensk (63,7 %) in 57 moških (36,3 %). 90 posameznikov (57,3 %) se je odzvalo v roku 12 mesecev od razkritja rezultata prvemu testiranemu. Povprečno število krvnih sorodnikov na družino, ki so se odločili za predsimptomatsko testiranje, je bilo 1,6. Če odštejemo družine, v katerih se ni javil nihče od svojcev, pa znaša to število povprečno 2,9 svojca na družino. Zaključek: Kaskadno genetsko testiranje je uspešen sistematični proces zagotavljanja genetskega testiranja krvnih sorodnikov nosilcev PR/VPR. V primeru LS se je pri 55,7 % pozitivnih družin za kaskadno testiranje odločil vsaj en krvni sorodnik. V družinah, v katerih so sorodniki prišli na kaskadno genetsko testiranje, so v povprečju prišli skoraj trije – skoraj 60 % v enem letu.
Keywords: kaskadno testiranje, genetsko testiranje, dedni nepolipozni rak debelega črevesa in danke
Published in DiRROS: 21.05.2025; Views: 154; Downloads: 42
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3. Analiza obravnav na Oddelku za onkološko klinično genetiko po posamezni lokaciji raka in pomen genetskih izvidov pri načrtovanju zdravljenjaNina Zavrl, Simona Hotujec, Srdjan Novaković, Vida Stegel, Mateja Krajc, 2024, original scientific article Abstract: Izhodišče: Na Onkološkem inštitutu Ljubljana (OIL) obravnavamo bolnike z rakom, pri katerih je izvid genetskega testiranja pomemben za načrtovanje zdravljenja in če obstaja velika verjetnost, da je pri njih prisoten dedni sindrom za raka. Namen raziskave je bil analizirati trend obravnav pri bolnikih z rakom in oceniti stopnjo odkrivanja nosilcev zarodnih genetskih okvar. Prav tako smo analizirali stopnjo odkrivanja zarodnih patogenih različic/verjetno patogenih različic (PR/VPR) glede na družinsko anamnezo. Metode: S pomočjo programa MS Excel in deskriptivnih statističnih metod smo na Oddelku za onkološko klinično genetiko, OIL, analizirali podatke o številu napotitev, družinski anamnezi in genetskih rezultatih po štirih lokacijah raka (dojk, jajčnikov, prostate in trebušne slinavke) za obdobje od 1. 1. 2020 do 30. 6. 2024. Rezultati: V 4,5 leta je bilo na genetsko svetovanje poslanih 4.252 bolnikov, največ z rakom dojk (3.074). V povprečju je od diagnoze do testiranja za zarodne PR/VPR minilo 4,3 leta. Med vsemi testiranimi smo pri 16,5 % odkrili zarodno PR/VPR. Največja stopnja odkrivanja zarodnih PR/VPR je bila pri testiranih bolnicah z rakom jajčnikov (25,2 %), sledijo bolniki z rakom trebušne slinavke (16,2 %) in dojk (16,2 %) ter bolniki z rakom prostate (11,1 %). Najpogosteje so bile najdene zarodne PR/VPR v genih BRCA1/2. Delež bolnikov s pozitivnim genetskim izvidom med vsemi, ki so imeli pozitivno družinsko anamnezo je bil 19,5 %, med bolniki z negativno družinsko anamnezo pa 12,4 %. Zaključek: Analiza potrjuje pomen genetskega testiranja zarodnih PR/VPR pri bolnikih z rakom. Pri 16,5 % bolnikov je bil rezultat testiranja lahko uporabljen za načrtovanje zdravljenja in preventive za njihove svojce. Menimo, da bi bilo smiselno razmisliti o uvedbi univerzalnega genetskega testiranja za bolnike z določenimi diagnozami raka in kaskadnega testiranja svojcev v varnem kliničnem okolju.
Keywords: zaviralci PARP, genetsko testiranje, patogene različice
Published in DiRROS: 21.05.2025; Views: 148; Downloads: 68
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4. Breme kožnega raka v SlovenijiBarbara Perić, Vesna Zadnik, Mateja Krajc, 2024, published professional conference contribution (invited lecture) Keywords: rak (medicina), melanom, kožne bolezni, ultrazvočno sevanje, zaščita, preprečevanje bolezni
Published in DiRROS: 23.01.2025; Views: 252; Downloads: 80
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5. UvodnikMateja Krajc, 2024, preface, editorial, afterword Keywords: rak (medicina), melanom, kožne bolezni, ultrazvočno sevanje, zaščita, preprečevanje bolezni
Published in DiRROS: 23.01.2025; Views: 199; Downloads: 79
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7. 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 studyKatja Jarm, Vesna Zadnik, Mojca Birk, Miloš Vrhovec, Kristijana Hertl, Žan Klaneček, Andrej Studen, Cveto Šval, Mateja Krajc, 2023, original scientific article Abstract: Background. 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.Patients and methods. A cross-sectional population-based study enrolled 11,898 women at the age of 50, invited to BC screening. The data on BC risk factors, including breast density from the first 3,491 study responders was col-lected and BC risk was assessed using the Tyrer-Cuzick algorithm (version 8) to classify women into risk groups (low, population, moderately increased, and high risk group). The number of screening mammographies according to risk stratification was simulated. Results. 57% (6,785) of women returned BC risk questionnaires. When stratifying 3,491 women into risk groups, 34.0% were assessed with low, 62.2% with population, 3.4% with moderately increased, and 0.4% with high 10-year BC risk. In the case of potential personalised screening, the number of screening mammographies would drop by 38.6% com-pared to the current screening policy. Conclusions. The study uptake showed the feasibility of risk assessment when inviting women to regular BC screen-ing. 3.8% of Slovenian women were recognised with higher than population 10-year BC risk. According to Slovenian BC guidelines they may be screened more often. Overall, personalised screening would decrease the number of screening mammographies in Slovenia. This information is to be considered when planning the pilot and assessing the feasibility of implementing population risk-based screening.
Keywords: breast cancer screening, personalised screening, risk assessment, mammography
Published in DiRROS: 25.07.2024; Views: 583; Downloads: 392
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8. The prevalence of occult ovarian cancer in the series of 155 consequently operated high risk asymptomatic patients : Slovenian population based studyAndreja Gornjec, Sebastjan Merlo, Srdjan Novaković, Vida Stegel, Barbara Gazić, Andraž Perhavec, Ana Blatnik, Mateja Krajc, 2020, original scientific article 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. Patients and methods. A retrospective analysis of all consecutive gynaecologic preventive surgeries from January 2009 to December 2015 was performed. Participants underwent genetic counselling and BRCA1/2 testing before the procedure. Data on clinical parameters, adjuvant treatment and follow-up were collected and analysed. Results. One hundred and fifty-five RRSO were performed in 110 BRCA1, 35 BRCA2 carriers of pathogenic or likely pathogenic variants and 10 high-risk BRCA1/2 negative women, at the mean age of 48.3 years. Nine occult cancers (9/155, 5.8%) were identified; eight in BRCA1 positive women and one in high-risk BRCA1/2 negative woman. We identified four non-invasive serous intraepithelial tubal carcinomas (3 in BRCA1 carriers and 1 in a high-risk BRCA1/2 negative woman) and five invasive tubo-ovarian high grade serous cancers (all detected in BRCA1 carriers). Only one out of nine patients (11.1%) with occult cancer had a slightly elevated CA-125 value preoperatively. Conclusions. A 5.8% prevalence of occult invasive and noninvasive tubo-ovarian serous cancer after RRSO was found in high risk asymptomatic and screen negative women. We conclude that RRSO should be performed in BRCA1/2 carriers and in high-risk BRCA1/2 negative women. Age of preventive gynaecologic surgery should be carefully planned, taking into account the completion of childbearing age and type of mutation. The results favour the tubal hypothesis of tubal origin of high grade serous ovarian and peritoneal cancer. Cytology result of peritoneal cavity washing was important for the decision making process in determining treatment. Cytology examination should be performed in all cases of RRSO. CA-125 assay did not prove to be an effective screening tool for early cancer detection in our patients.
Keywords: risk-reducing salpingo-oophorectomy, occult serous cancer, serous tubal intraepithelial cancer, BRCA1/2 pathogenic or likely pathogenic variant
Published in DiRROS: 12.07.2024; Views: 566; Downloads: 193
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9. Breast cancer risk based on adapted IBIS prediction model in Slovenian women aged 40-49 years : coul it be better?Tjaša Oblak, Vesna Zadnik, Mateja Krajc, Katarina Lokar, Janez Žgajnar, 2020, original scientific article Keywords: breast surgery, IBIS, prediction models, risk factors
Published in DiRROS: 12.07.2024; Views: 509; Downloads: 187
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10. Interval cancers after negative immunochemical test compared to screen and non-respondersʼ detected cancers in Slovenian colorectal cancer screening programmeDominika Novak-Mlakar, Tatjana Kofol-Bric, Ana Lucija Škrjanec, Mateja Krajc, 2018, original scientific article 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. Patients and methods. The analysis included the population aged between 50 to 69 years, which was invited for screening between April 2011 and December 2012. The persons were followed-up until the next foreseen invitation, in average for 2 years. The data on interval cancers and cancers in non-responders were obtained from cancer registry. Gender, age, years of schooling, the cancer site and stage were compared among three observed groups. We used the proportional incidence method to calculate the screening test sensitivity. Results. Among 502,488 persons invited for screening, 493 cancers were detected after positive screening test, 79 interval cancers after negative faecal immunochemical test and 395 in non-responders. The proportion of interval cancers was 13.8%. Among the three observed groups cancers were more frequent in men (p = 0.009) and in persons aged 60+ years (p < 0.001). Comparing screen detected and cancers in non-responders with interval cancers more interval cancers were detected in persons with 10 years of schooling or more (p = 0.029 and p = 0.001), in stage III (p = 0.027) and IV (p < 0.001), and in right hemicolon (p < 0.001). Interval cancers were more frequently in stage I than non-responders cancers (p = 0.004). Test sensitivity of faecal immunochemical test was 88.45%. Conclusions. Interval cancers in Slovenian screening programme were detected in expected proportions as in similar programmes. Test sensitivity was among the highest when compared to similar programmes and was accomplished using test kit for two stool samples.
Keywords: cancer screening, colorectal cancer, faecal immunochemical test, test sensitivity
Published in DiRROS: 10.06.2024; Views: 640; Downloads: 164
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