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Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Song H, Dicks EM, Tyrer J, Intermaggio M, Chenevix-Trench G, Bowtell DD, Traficante N, Group A, Brenton J, Goranova T, Hosking K, Piskorz A, van Oudenhove E, Doherty J, Harris HR, Rossing MA, Duerst M, Dork T, Bogdanova NV, Modugno F, Moysich K, Odunsi K, Ness R, Karlan BY, Lester J, Jensen A, Krüger Kjaer S, Høgdall E, Campbell IG, Lázaro C, Pujara MA, Cunningham J, Vierkant R, Winham SJ, Hildebrandt M, Huff C, Li D, Wu X, Yu Y, Permuth JB, Levine DA, Schildkraut JM, Riggan MJ, Berchuck A, Webb PM, Group OS, Cybulski C, Gronwald J, Jakubowska A, Lubinski J, Alsop J, Harrington P, Chan I, Menon U, Pearce CL, Wu AH, de Fazio A, Kennedy CJ, Goode E, Ramus S, Gayther S, Pharoah P. Song H, et al. Among authors: cybulski c. J Med Genet. 2021 May;58(5):305-313. doi: 10.1136/jmedgenet-2019-106739. Epub 2020 Jun 16. J Med Genet. 2021. PMID: 32546565 Free PMC article.
Detection of germline mutations in the BRCA1 gene by RNA-based sequencing.
Jakubowska A, Górski B, Byrski T, Huzarski T, Gronwald J, Menkiszak J, Cybulski C, Debniak T, Hadaczek P, Scott RJ, Lubinski J. Jakubowska A, et al. Among authors: cybulski c. Hum Mutat. 2001 Aug;18(2):149-56. doi: 10.1002/humu.1164. Hum Mutat. 2001. PMID: 11462239
Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.
Cybulski C, Krzystolik K, Murgia A, Górski B, Debniak T, Jakubowska A, Martella M, Kurzawski G, Prost M, Kojder I, Limon J, Nowacki P, Sagan L, Białas B, Kałuza J, Zdunek M, Omulecka A, Jaskólski D, Kostyk E, Koraszewska-Matuszewska B, Haus O, Janiszewska H, Pecold K, Starzycka M, Słomski R, Cwirko M, Sikorski A, Gliniewicz B, Cyryłowski L, Fiszer-Maliszewska Ł, Gronwald J, Tołoczko-Grabarek A, Zajaczek S, Lubiński J. Cybulski C, et al. J Med Genet. 2002 Jul;39(7):E38. doi: 10.1136/jmg.39.7.e38. J Med Genet. 2002. PMID: 12114495 Free PMC article. No abstract available.
Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.
Kurzawski G, Suchy J, Kładny J, Safranow K, Jakubowska A, Elsakov P, Kucinskas V, Gardovski J, Irmejs A, Sibul H, Huzarski T, Byrski T, Debniak T, Cybulski C, Gronwald J, Oszurek O, Clark J, Góźdź S, Niepsuj S, Słomski R, Pławski A, Łacka-Wojciechowska A, Rozmiarek A, Fiszer-Maliszewska Ł, Bebenek M, Sorokin D, Stawicka M, Godlewski D, Richter P, Brozek I, Wysocka B, Jawień A, Banaszkiewicz Z, Kowalczyk J, Czudowska D, Goretzki PE, Moeslein G, Lubiński J. Kurzawski G, et al. Among authors: cybulski c. J Med Genet. 2002 Oct;39(10):E65. doi: 10.1136/jmg.39.10.e65. J Med Genet. 2002. PMID: 12362047 Free PMC article. No abstract available.
Molecular basis of inherited predispositions for tumors.
Lubiński J, Górski B, Kurzawski G, Jakubowska A, Cybulski C, Suchy J, Debniak T, Grabowska E, Lener M, Nej K. Lubiński J, et al. Among authors: cybulski c. Acta Biochim Pol. 2002;49(3):571-81. Acta Biochim Pol. 2002. PMID: 12422228 Free article. Review.
Germline 657del5 mutation in the NBS1 gene in breast cancer patients.
Górski B, Debniak T, Masojć B, Mierzejewski M, Medrek K, Cybulski C, Jakubowska A, Kurzawski G, Chosia M, Scott R, Lubiński J. Górski B, et al. Among authors: cybulski c. Int J Cancer. 2003 Sep 1;106(3):379-81. doi: 10.1002/ijc.11231. Int J Cancer. 2003. PMID: 12845677 Free article.
378 results