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Mutacije ret proto-onkogena v slovenski populaciji bolnikov z medularnim rakom ščitnice = Ret proto-oncogene mutations in the slovenian population of patients with medullary thyroid cancerMilićević, Sara ...Izhodišča. Medularni rak ščitnice (MRŠ) je redek endokrini tumor, ki se v približno 25 % primerov pojavlja v družinski obliki bolezni v sklopu multiple endokrine neoplazije tipa 2, v 75 % pa je ... bolezen sporadična. Namen dela je bil oceniti incidenco MRŠ ter pogostost in vrsto RET-mutacij v slovenski populaciji bolnikov med letoma 1995 in 2015.Metode. Retrospektivno smo analizirali podatke Registra raka Republike Slovenije in Registra bolnikov z MRŠ Onkološkega Inštituta v Ljubljani, zbrane med letoma 1995 in 2015. V ključili smo 143 bolnikov s potrjenim MRŠ in 43 njihovih zdravih sorodnikov, ki so bili napoteni na genetsko svetovanje in testira-nje. Genomsko DNK smo izolirali iz levkocitov periferne krvi. Eksone 10, 11, 13, 14, 15 in 16 RET protoonkogena smo pomnožili z verižno reakcijo s polimerazo. Točkovne mutacije RET proto-onkogena smo odkrili z metodo SSCA in DNA-sekvenciranjem. Zaznane mutacije so bile potrjene z restrikcijskimi encimi.Rezultati. Zarodno mutacijo RET protoonkogena smo odkrili pri 51 osebah; med njimi je bilo 37 bolnikov z MRŠ, kar predsta-vlja 25,9 % vseh bolnikov z MRŠ. Odkrili smo osem različnih mutacij RET protoonkogena. Najpogosteje smo potrdili mutacijo v kodonih 634 in 618, sledili so kodoni 790, 804 in 918. Povprečna groba letna incidenčna stopnja MRŠ v Sloveniji za opazovano obdobje znaša 0,34/100.000 prebivalcev.Zaključek. Ocenjena povprečna groba letna incidenčna stopnja MRŠ v Sloveniji je bila 0,34/100.000. Poleg tega smo ugotovili, da se RET-mutacija pojavlja v naši populaciji bolnikov v 25,9 % ter da najpogosteje prizadene kodona 634 in 618.Source: Onkologija : strokovni časopis za zdravnike. - ISSN 1408-1741 (Leto 24, št. 1, 2020, str. 12-18)Type of material - article, component partPublish date - 2020Language - slovenianCOBISS.SI-ID - 17214467
source: Onkologija : strokovni časopis za zdravnike. - ISSN 1408-1741 (Leto 24, št. 1, 2020, str. 12-18)
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Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Milićević, Sara | 57408 |
Bergant, Damijan, 1951- | 08748 |
Žagar, Tina, 1979- | 25531 |
Perić, Barbara, 1976- | 24299 |
Source: Personal bibliographies
and: SICRIS
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