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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.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.Communications Biology|January 19, 2022
Rare germline copy number variants (CNVs) and breast cancer riskJoe Dennis, Jonathan P Tyrer, Logan C Walker, 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.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.Cancer Research|March 12, 2017
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast CancerHermela Shimelis, Romy L S Mesman, Catharina Von Nicolai, et al.Medrxiv : the Preprint Server for Health Sciences|February 27, 2024
Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk predictionKristia Yiangou, Nasim Mavaddat, Joe Dennis, et al.Nature Communications|January 18, 2020
A network analysis to identify mediators of germline-driven differences in breast cancer prognosisMaria Escala-Garcia, Jean Abraham, Irene L Andrulis, et al.Pageof 18