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

Pathogenic germline variants in Breast cancer susceptibility gene 1 (BRCA1) predispose carriers to hereditary breast and ovarian cancer (HBOC). Through genetic testing of patients with suspected HBOC an increasing number of novel BRCA1 variants are discovered. This creates a growing need to determin...

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Detalles Bibliográficos
Autores principales: Hovland, Henrikke N., Al-Adhami, Rafal, Ariansen, Sarah Louise, Van Ghelue, Marijke, Sjursen, Wenche, Lima, Sigrid, Bolstad, Marte, Berger, Amund H., Høberg-Vetti, Hildegunn, Knappskog, Per, Haukanes, Bjørn Ivar, Aukrust, Ingvild, Ognedal, Elisabet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9636114/
https://www.ncbi.nlm.nih.gov/pubmed/34981296
http://dx.doi.org/10.1007/s10689-021-00286-6