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European Journal of Human Genetics : EJHG|January 27, 2023
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European womenGisella Figlioli, Amandine Billaud, Thomas U Ahearn, 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.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.Eclinicalmedicine|May 14, 2023
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome databaseMev Dominguez-Valentin, Saskia Haupt, Toni T Seppälä, et al.Human Molecular Genetics|September 6, 2011
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriersDavid G Cox, Jacques Simard, Daniel Sinnett, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|December 17, 2019
Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 FamiliesXin Yang, Goska Leslie, Alicja Doroszuk, et al.Medrxiv : the Preprint Server for Health Sciences|March 17, 2025
Overlap of high-risk individuals across family history, genetic & non-genetic breast cancer risk models: Analysis of 180,398 women from European & Asian ancestriesPeh Joo Ho, Christine Kim Yan Loo, Meng Huang Goh, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variantInge M M Lakeman, Alexandra J van den Broek, Juliën A M Vos, 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.Cancers|November 13, 2025
Threshold-Based Overlap of Breast Cancer High-Risk Classification Using Family History, Polygenic Risk Scores, and Traditional Risk Models in 180,398 WomenPeh Joo Ho, Christine Kim Yan Loo, Ryan Jak Yang Lim, et al.Pageof 55