Article
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.
Familial cancer - 1 Oct 2022
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
Abstract excerpt
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 determine the clinical significance of these variants through correct classification (class 1-5) according to established...
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