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Human Molecular Genetics|March 25, 2016
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithmsMiguel de la Hoya, Omar Soukarieh, Irene López-Perolio, et al.Journal of Medical Genetics|May 14, 2026
Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languagesArcangela De Nicolo, Diana M Eccles, Kirsimari Aaltonen, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|January 25, 2022
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic VariantsShuai Li, Valentina Silvestri, Goska Leslie, et al.Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|July 14, 2023
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer RiskLenka Stolarova, Petra Kleiblova, Petra Zemankova, et al.JAMA Oncology|July 3, 2020
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)Valentina Silvestri, Goska Leslie, Daniel R Barnes, et al.European Journal of Human Genetics : EJHG|January 14, 2022
Polygenic risk modeling for prediction of epithelial ovarian cancer riskEileen O Dareng, Jonathan P Tyrer, Daniel R Barnes, et al.NPJ Breast Cancer|November 9, 2019
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancerGisella Figlioli, Massimo Bogliolo, Irene Catucci, et al.Nature Genetics|January 9, 2020
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genesLaura Fachal, Hugues Aschard, Jonathan Beesley, et al.Pageof 3