Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier

por Byrjalsen, Anna, Steffensen, Ane Y., Hansen, Thomas v. O., Wadt, Karin, Gerdes, Anne‐Marie
Publicado 2017

Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations

por Steffensen, Ane Y., Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C., Hansen, Thomas V. O.
Publicado 2010

Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic

por Ahlborn, Lise B., Dandanell, Mette, Steffensen, Ane Y., Jønson, Lars, Nielsen, Finn C., Hansen, Thomas v. O.
Publicado 2015

Functional characterization of BRCA1 gene variants by mini-gene splicing assay

por Steffensen, Ane Y, Dandanell, Mette, Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C, Hansen, Thomas vO
Publicado 2014