Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance

di Langerud, Jonas, Jarhelle, Elisabeth, Van Ghelue, Marijke, Ariansen, Sarah Louise, Iversen, Nina
Pubblicato in Hum Genomics (2018)

Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations

di Wangensteen, Teresia, Felde, Caroline Nangota, Ahmed, Deeqa, Mæhle, Lovise, Ariansen, Sarah Louise
Pubblicato in Hered Cancer Clin Pract (2019)

BRCA1 and BRCA2 mutation spectrum – an update on mutation distribution in a large cancer genetics clinic in Norway

di Heramb, Cecilie, Wangensteen, Teresia, Grindedal, Eli Marie, Ariansen, Sarah Louise, Lothe, Sheba, Heimdal, Ketil Riddervold, Mæhle, Lovise
Pubblicato in Hered Cancer Clin Pract (2018)

Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers

di Grindedal, Eli Marie, Heramb, Cecilie, Karsrud, Inga, Ariansen, Sarah Louise, Mæhle, Lovise, Undlien, Dag Erik, Norum, Jan, Schlichting, Ellen
Pubblicato in BMC Cancer (2017)

BRCA mutation carrier detection. A model-based cost-effectiveness analysis comparing the traditional family history approach and the testing of all patients with breast cancer

di Norum, Jan, Grindedal, Eli Marie, Heramb, Cecilie, Karsrud, Inga, Ariansen, Sarah Louise, Undlien, Dag Erik, Schlichting, Ellen, Mæhle, Lovise
Pubblicato in ESMO Open (2018)

The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23—a likely pathogenic variant with reduced penetrance?

di Høberg-Vetti, Hildegunn, Ognedal, Elisabet, Buisson, Adrien, Vamre, Tone Bøe Aaman, Ariansen, Sarah, Hoover, Jacqueline M., Eide, Geir Egil, Houge, Gunnar, Fiskerstrand, Torunn, Haukanes, Bjørn Ivar, Bjorvatn, Cathrine, Knappskog, Per Morten
Pubblicato in Eur J Hum Genet (2020)

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers

di Sjursen, Wenche, Haukanes, Bjørn Ivar, Grindedal, Eli Marie, Aarset, Harald, Stormorken, Astrid, Engebretsen, Lars F, Jonsrud, Christoffer, Bjørnevoll, Inga, Andresen, Per Arne, Ariansen, Sarah, Lavik, Liss Anne S, Gilde, Bodil, Bowitz-Lothe, Inger Marie, Mæhle, Lovise, Møller, Pål
Pubblicazione 2010