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Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer.
Hansen TV, Jønson L, Albrechtsen A, Steffensen AY, Bergsten E, Myrhøj T, Ejlertsen B, Nielsen FC. Hansen TV, et al. Among authors: steffensen ay. Breast Cancer Res Treat. 2010 Nov;124(1):259-64. doi: 10.1007/s10549-010-0909-9. Epub 2010 May 1. Breast Cancer Res Treat. 2010. PMID: 20437199
Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer.
Jønson L, Ahlborn LB, Steffensen AY, Djursby M, Ejlertsen B, Timshel S, Nielsen FC, Gerdes AM, Hansen TV. Jønson L, et al. Among authors: steffensen ay. Breast Cancer Res Treat. 2016 Jan;155(2):215-22. doi: 10.1007/s10549-015-3674-y. Epub 2016 Jan 6. Breast Cancer Res Treat. 2016. PMID: 26740214
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Thomassen M, Blanco A, Montagna M, Hansen TV, Pedersen IS, Gutiérrez-Enríquez S, Menéndez M, Fachal L, Santamariña M, Steffensen AY, Jønson L, Agata S, Whiley P, Tognazzo S, Tornero E, Jensen UB, Balmaña J, Kruse TA, Goldgar DE, Lázaro C, Diez O, Spurdle AB, Vega A. Thomassen M, et al. Among authors: steffensen ay. Breast Cancer Res Treat. 2012 Apr;132(3):1009-23. doi: 10.1007/s10549-011-1674-0. Epub 2011 Jul 19. Breast Cancer Res Treat. 2012. PMID: 21769658