Associated Papers
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence.
Ramadane-Morchadi L et al.
American Journal of Human Genetics, 2025
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Crucial roles of the BRCA1-BARD1 E3 ubiquitin ligase activity in homology-directed DNA repair.
Wang M et al.
Molecular Cell, 2023
Refinement of the assignment to the ACMG/AMP BS3 and PS3 criteria of eight BRCA1 variants of uncertain significance by integrating available functional data with protein interaction assays.
Caleca L et al.
Frontiers in Oncology, 2023
Benchmarking of SpCas9 variants enables deeper base editor screens of BRCA1 and BCL2.
Sangree AK et al.
Nature Communications, 2022
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants.
Özkan S et al.
International Journal of Molecular Sciences, 2021
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM et al.
Nature, 2018
The impact of pharmacogenetics on radiation therapy outcome in cancer patients. A focus on DNA damage response genes.
Borchiellini D et al.
Cancer Treatment Reviews, 2012
Interaction between polymorphisms of DNA repair genes significantly modulated bladder cancer risk.
Zhi Y et al.
International Journal of Medical Sciences, 2012
Genetic polymorphisms and breast cancer risk: evidence from meta-analyses, pooled analyses, and genome-wide association studies.
Peng S et al.
Breast Cancer Research and Treatment, 2011
A functional -77T>C polymorphism in XRCC1 is associated with risk of breast cancer.
Liu L et al.
Breast Cancer Research and Treatment, 2011
Genetic variation in normal tissue toxicity induced by ionizing radiation.
Popanda O et al.
Mutation Research, 2009
The association of XRCC1 haplotypes and chromosomal damage levels in peripheral blood lymphocyte among coke-oven workers.
Leng S et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005
[Association of XRCC1 polymorphisms and chromosomal damage levels in coke-oven workers].
Leng SG et al.
Zhonghua Yu Fang Yi Xue Za Zhi [chinese Journal of Preventive Medicine], 2005
[A study on the inherited susceptibility of chromosomal damage in peripheral blood lymphocytes among coke oven workers].
Leng SG et al.
Zhonghua Yu Fang Yi Xue Za Zhi [chinese Journal of Preventive Medicine], 2004
Polymorphism in the DNA repair enzyme XRCC1: utility of current database and implications for human health risk assessment.
Ginsberg G et al.
Mutation Research, 0