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Page 1
Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.
Feliubadaló L, López-Fernández A, Pineda M, Díez O, Del Valle J, Gutiérrez-Enríquez S, Teulé A, González S, Stjepanovic N, Salinas M, Capellá G, Brunet J, Lázaro C, Balmaña J; Catalan Hereditary Cancer Group. Feliubadaló L, et al. Among authors: stjepanovic n. Int J Cancer. 2019 Nov 15;145(10):2682-2691. doi: 10.1002/ijc.32304. Epub 2019 Apr 15. Int J Cancer. 2019. PMID: 30927264
Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer.
Montalban G, Bonache S, Moles-Fernández A, Gisbert-Beamud A, Tenés A, Bach V, Carrasco E, López-Fernández A, Stjepanovic N, Balmaña J, Diez O, Gutiérrez-Enríquez S. Montalban G, et al. Among authors: stjepanovic n. J Med Genet. 2019 Feb;56(2):63-74. doi: 10.1136/jmedgenet-2018-105606. Epub 2018 Nov 24. J Med Genet. 2019. PMID: 30472649
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Moles-Fernández A, Duran-Lozano L, Montalban G, Bonache S, López-Perolio I, Menéndez M, Santamariña M, Behar R, Blanco A, Carrasco E, López-Fernández A, Stjepanovic N, Balmaña J, Capellá G, Pineda M, Vega A, Lázaro C, de la Hoya M, Diez O, Gutiérrez-Enríquez S. Moles-Fernández A, et al. Among authors: stjepanovic n. Front Genet. 2018 Sep 5;9:366. doi: 10.3389/fgene.2018.00366. eCollection 2018. Front Genet. 2018. PMID: 30233647 Free PMC article.
Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.
Duran-Lozano L, Montalban G, Bonache S, Moles-Fernández A, Tenés A, Castroviejo-Bermejo M, Carrasco E, López-Fernández A, Torres-Esquius S, Gadea N, Stjepanovic N, Balmaña J, Gutiérrez-Enríquez S, Diez O. Duran-Lozano L, et al. Among authors: stjepanovic n. Breast Cancer Res Treat. 2019 Apr;174(2):543-550. doi: 10.1007/s10549-018-05094-8. Epub 2018 Dec 14. Breast Cancer Res Treat. 2019. PMID: 30552643
Chromosome fragility in the buccal epithelium in patients with Fanconi anemia.
Ramírez MJ, Minguillón J, Loveless S, Lake K, Carrasco E, Stjepanovic N, Balmaña J, Català A, Mehta PA, Surrallés J. Ramírez MJ, et al. Among authors: stjepanovic n. Cancer Lett. 2020 Mar 1;472:1-7. doi: 10.1016/j.canlet.2019.12.008. Epub 2019 Dec 10. Cancer Lett. 2020. PMID: 31830560
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
Bogliolo M, Pujol R, Aza-Carmona M, Muñoz-Subirana N, Rodriguez-Santiago B, Casado JA, Rio P, Bauser C, Reina-Castillón J, Lopez-Sanchez M, Gonzalez-Quereda L, Gallano P, Catalá A, Ruiz-Llobet A, Badell I, Diaz-Heredia C, Hladun R, Senent L, Argiles B, Bergua Burgues JM, Bañez F, Arrizabalaga B, López Almaraz R, Lopez M, Figuera Á, Molinés A, Pérez de Soto I, Hernando I, Muñoz JA, Del Rosario Marin M, Balmaña J, Stjepanovic N, Carrasco E, Cuesta I, Cosuelo JM, Regueiro A, Moraleda Jimenez J, Galera-Miñarro AM, Rosiñol L, Carrió A, Beléndez-Bieler C, Escudero Soto A, Cela E, de la Mata G, Fernández-Delgado R, Garcia-Pardos MC, Sáez-Villaverde R, Barragaño M, Portugal R, Lendinez F, Hernadez I, Vagace JM, Tapia M, Nieto J, Garcia M, Gonzalez M, Vicho C, Galvez E, Valiente A, Antelo ML, Ancliff P, Garcia F, Dopazo J, Sevilla J, Paprotka T, Pérez-Jurado LA, Bueren J, Surralles J. Bogliolo M, et al. Among authors: stjepanovic n. J Med Genet. 2020 Apr;57(4):258-268. doi: 10.1136/jmedgenet-2019-106249. Epub 2019 Oct 5. J Med Genet. 2020. PMID: 31586946
Breast cancer risk after age 60 among BRCA1 and BRCA2 mutation carriers.
Stjepanovic N, Lubinski J, Moller P, Randall Armel S, Foulkes WD, Tung N, Neuhausen SL, Kotsopoulos J, Sun P, Sun S, Eisen A, Narod SA; Hereditary Breast Cancer Clinical Study Group. Stjepanovic N, et al. Breast Cancer Res Treat. 2021 Jun;187(2):515-523. doi: 10.1007/s10549-020-06072-9. Epub 2021 Jan 10. Breast Cancer Res Treat. 2021. PMID: 33423179
Additional germline findings from a tumor profiling program.
Stjepanovic N, Stockley TL, Bedard PL, McCuaig JM, Aronson M, Holter S, Semotiuk K, Leighl NB, Jang R, Krzyzanowska MK, Oza AM, Gupta A, Elser C, Ahmed L, Wang L, Kamel-Reid S, Siu LL, Kim RH. Stjepanovic N, et al. BMC Med Genomics. 2018 Aug 9;11(1):65. doi: 10.1186/s12920-018-0383-5. BMC Med Genomics. 2018. PMID: 30092803 Free PMC article.
30 results