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Human Mutation|February 21, 2018
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicityMara Colombo, Irene Lòpez-Perolio, Huong D Meeks, et al.American Journal of Human Genetics|September 20, 2016
Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 RegulationMaya Ghoussaini, Juliet D French, Kyriaki Michailidou, et al.Journal of Medical Genetics|July 14, 2023
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in IsraelHagai Levi, Shai Carmi, Saharon Rosset, 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.Communications Biology|January 19, 2022
Rare germline copy number variants (CNVs) and breast cancer riskJoe Dennis, Jonathan P Tyrer, Logan C Walker, et al.Cancer Medicine|July 4, 2023
Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survivalAnna Morra, Maartje A C Schreurs, Irene L Andrulis, et al.International Journal of Cancer|April 19, 2016
Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancerJiajun Shi, Yanfeng Zhang, Wei Zheng, et al.Journal of Medical Genetics|February 28, 2016
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testingDouglas F Easton, Fabienne Lesueur, Brennan Decker, et al.Breast Cancer Research : BCR|December 29, 2024
Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk predictionKristia Yiangou, Nasim Mavaddat, Joe Dennis, et al.American Journal of Human Genetics|June 16, 2015
Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 ExpressionHatef Darabi, Karen McCue, Jonathan Beesley, et al.Pageof 24