1. 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: 52; Downloads: 17
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2. Spremljanje bolnikov in njihovih zdravih svojcev po diagnozi dedne predispozicije za rakaMateja Krajc, 2024, published professional conference contribution Abstract: Vsaj pet odstotkov vseh novih diagnoz raka povezujemo z dedno predispozicijo. Posamezniki, ki podedujejo patogeno ali verjetno patogeno različico, so bolj ogroženi, da bodo zboleli za rakom, ki ga povezujemo z določenim dednim sindromom oziroma z okvaro določenega gena. Običajno te posameznike, ne glede na to, ali so že zboleli za rakom ali ne, vabimo na presejalne preglede za rake, za katere so ogroženi. Večinoma je program spremljanja organiziran skladno s trenutno uveljavljenimi mednarodnimi smernicami in konsenzom strokovnjakov na področjih, kjer nimamo dovolj z dokazi podrtih ukrepov zaradi redkosti sindroma. Prav zato velikokrat spremljanje sloni na klinični presoji zdravnika, ki te posameznike obravnava, upoštevajoč splošno zmogljivost, zdravstveno stanje, morebitne pridružene bolezni in pričakovano življenjsko dobo. Zato mnoge države uporabljajo spremljanja v okviru raziskovalnih projektov, kjer se optimalni intervali spremljanja in določitev primernih presejalnih testov za zgodnje odkrivanje raka pri redkih dednih sindromih za raka šele razvijajo. Tako kot je že dokazano pri presejalnih programih za raka, kamor vključujemo splošno populacijo, je tudi pri presejanju bolj ogroženih lahko prisotna psihološka stiska. Med spremljanjem namreč veliko razmišljajo o tem, ali jim bo odkrit rak, zaradi katerega so zboleli in/ali umrli njihovi svojci. V tej populaciji je zato še posebej pomembno, da posameznikom nudimo ustrezno svetovanje pred vključitvijo v program spremljanja, predamo natančen protokol pregledov in predstavimo prednosti in omejitve presejanja in spremljanja ter nudimo ustrezno psihološko pomoč.
Keywords: bolniki, genetske preiskave, spremljanje bolnikov, denost
Published in DiRROS: 06.06.2024; Views: 82; Downloads: 44
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3. Prepoznavanje ogroženosti za nastanek raka dojk na mamografskih slikahŽan Klaneček, Andrej Studen, Katja Jarm, Mateja Krajc, Miloš Vrhovec, Robert Jeraj, 2024, published professional conference contribution Abstract: Za prehod s populacijskega na personalizirano presejanje za raka dojk je v prvi vrsti potrebno natančno prepoznavanje ogroženosti za razvoj raka dojk. Standardni modeli, ki temeljijo na klasičnih značilkah, niso najbolj zanesljivi. Z razvojem umetne inteligence, predvsem na področju globokega učenja, se je izkazalo, da modeli, ki so naučeni na mamografskih slikah, dosegajo signifikantno boljše rezultate pri napovedovanju ogroženosti. Trenutno je najboljši model za napovedovanje ogroženosti MIRAI, ki je bil uspešno validiran na različnih populacijah. A vendar so rezultati še daleč od popolnih in možnosti za izboljšave je ogromno, predvsem na področju razširitve uporabnosti modela za različne proizvajalce mamografskih aparatov, vključevanja longitudinalnih sprememb in uporabe segmentiranih slik dojke.
Keywords: obvladovanje raka, presejalni programi, rak dojk, mamografija
Published in DiRROS: 06.06.2024; Views: 80; Downloads: 38
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4. Genetic counselling, BRCA1/2 status and clinico-pathologic characteristics of patients with ovarian cancer before 50 years of ageMirjam Cvelbar, Marko Hočevar, Srdjan Novaković, Vida Stegel, Andraž Perhavec, Mateja Krajc, 2017, original scientific article 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. Patients and methods. All clinical data have to be interpreted in the light of many changes happened in the field of EOC just in the last few years: new hystology stage classification (FIGO), new hystology types and differentiation grades classification, new therapeutic possibilities (PARP inhibitors available, also in Slovenia) and new guidelines for genetic counselling of EOC patients (National Comprehensive Cancer Network, NCCN), together with next-generation sequencing possibilities. Results. Compliance rate at the invitation was 43.1%. In the group of 27 invited or previously tested patients with EOC diagnosed before the age of 45 years, five gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within the group was 18.5%. There were 4 gBRCA1 and 1 gBRCA2 mutations detected. In the extended group of 42 tested patients with EOC diagnosed before the age of 50 years, 14 gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within this extended, partially selected group was 33.3%. There were 11 gBRCA1 and 3 gBRCA2 mutations detected. Conclusions. The rate of gBRCA1/2 mutation in tested unselected EOC patients under the age of 50 years was higher than 10%, namely 18.5%. Considering also a direct therapeuthic benefit of PARP inhibitors for BRCA positive patients, there is a double reason to offer genetic testing to all EOC patients younger than 50 years. Regarding clinical data, it is important to perform their re-interpretation in everyday clinical practice, because this may influence therapeutic possibilities to be offered.
Keywords: ovarian cancer, BRCA 1/2, genetic counseling
Published in DiRROS: 24.05.2024; Views: 134; Downloads: 94
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5. Breast cancer risk prediction using Tyrer-Cuzick algorithm with an 18-SNPs polygenic risk score in a European population with below-average breast cancer incidenceTjaša Oblak, Petra Škerl, Benjamin J. Narang, Rok Blagus, Mateja Krajc, Srdjan Novaković, Janez Žgajnar, 2023, original scientific article Abstract: Goals: To determine whether an 18 single nucleotide polymorphisms (SNPs) polygenic risk score (PRS18) improves breast cancer (BC) risk prediction for women at above-average risk of BC, aged 40-49, in a Central European population with BC incidence below EU average. Methods: 502 women aged 40-49 years at the time of BC diagnosis completed a questionnaire on BC risk factors (as per Tyrer-Cuzick algorithm) with data known at age 40 and before BC diagnosis. Blood samples were collected for DNA isolation. 250 DNA samples from healthy women aged 50 served as a control cohort. 18 BC-associated SNPs were genotyped in both groups and PRS18 was calculated. The predictive power of PRS18 to detect BC was evaluated using a ROC curve. 10-year BC risk was calculated using the Tyrer-Cuzick algorithm adapted to the Slovenian incidence rate (S-IBIS): first based on questionnaire-based risk factors and, second, including PRS18. Results: The AUC for PRS18 was 0.613 (95 % CI 0.570-0.657). 83.3 % of women were classified at above-average risk for BC with S-IBIS without PRS18 and 80.7 % when PRS18 was included. Conclusion: BC risk prediction models and SNPs panels should not be automatically used in clinical practice in different populations without prior population-based validation. In our population the addition of an 18SNPs PRS to questionnaire-based risk factors in the Tyrer-Cuzick algorithm in general did not improve BC risk stratification, however, some improvements were observed at higher BC risk scores and could be valuable in distinguishing women at intermediate and high risk of BC.
Keywords: early breast cancer, polygenic risk score, risk prediction
Published in DiRROS: 21.03.2024; Views: 177; Downloads: 50
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9. Dedni rak telesa maternice : kdaj je indicirano genetsko svetovanjeKsenija Strojnik, Ana Blatnik, Mateja Krajc, 2023, published scientific conference contribution 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.
Keywords: rak maternice, ginekološki raki, ginekološka onkologija
Published in DiRROS: 01.06.2023; Views: 428; Downloads: 193
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