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

BACKGROUND: Founder mutations in the two breast cancer genes, BRCA1 and BRCA2, have been described in many populations, among these are Ashkenazi-Jewish, Polish, Norwegian and Icelandic. Founder mutation testing in patients with relevant ancestry has been a cost-efficient approach in such population...

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Detalles Bibliográficos
Autores principales: Heramb, Cecilie, Wangensteen, Teresia, Grindedal, Eli Marie, Ariansen, Sarah Louise, Lothe, Sheba, Heimdal, Ketil Riddervold, Mæhle, Lovise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5761139/
https://www.ncbi.nlm.nih.gov/pubmed/29339979
http://dx.doi.org/10.1186/s13053-017-0085-6