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

Autor: Norum, Jan, Grindedal, Eli Marie, Heramb, Cecilie, Karsrud, Inga, Ariansen, Sarah Louise, Undlien, Dag Erik, Schlichting, Ellen, Mæhle, Lovise

Publikováno v: In ESMO Open 2018 3(3)

A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing

Autor: Bjørnstad, Pål Marius, Aaløkken, Ragnhild Margrethe, Åsheim, June, Sundaram, Arvind, Nangota Felde, Caroline, Østby, Gina Henriette, Dalland, Marianne, Sjursen, Wenche, Carrizosa, Christian, Vigeland, Magnus Dehli, Sorte, Hanne Sørmo, Sheng, Ying, Ariansen, Sarah Louise, Grindedal, Eli Marie, Gilfillan, Gregor

Externí odkaz: https://hdl.handle.net/11250/3121705

BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories

Autor: Hovland, Henrikke Nilsen, Al-Adhami, Rafal, Ariansen, Sarah Louise, Van Ghelue, Marijke, Sjursen, Wenche, Anfinsen, Sigrid Lima, Bolstad, Marte, Berger, Amund Holte, Vetti, Hildegunn Høberg, Knappskog, Per Morten, Haukanes, Bjørn Ivar, Aukrust, Ingvild, Ognedal, Elisabet

Externí odkaz: https://hdl.handle.net/11250/3044145

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

Autor: Heramb, Cecilie, Wangensteen, Teresia, Grindedal, Eli Marie, Ariansen, Sarah Louise, Lothe, Sheba, Heimdal, Ketil Riddervold, Mæhle, Lovise

Publikováno v: Hereditary Cancer in Clinical Practice

Externí odkaz: http://hdl.handle.net/10852/65615
https://www.duo.uio.no/bitstream/handle/10852/65615/1/s13053-017-0085-6.pdf

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

Autor: Grindedal, Eli Marie, Heramb, Cecilie, Karsrud, Inga, Ariansen, Sarah Louise, Mæhle, Lovise Olaug, Undlien, Dag Erik, Norum, Jan, Schlichting, Ellen

Publikováno v: Grindedal, Eli Marie Heramb, Cecilie Karsrud, Inga Ariansen, Sarah Louise Mæhle, Lovise Olaug Undlien, Dag Erik Norum, Jan Schlichting, Ellen . Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers. BMC Cancer. 2017, 17:438, 1-13
BMC Cancer

Externí odkaz: http://hdl.handle.net/10852/62318
https://www.duo.uio.no/bitstream/handle/10852/62318/1/s12885-017-3422-2.pdf