Associated Papers
Saturation genome editing of 11 codons and exon 13 of BRCA2 coupled with chemotherapeutic drug response accurately determines pathogenicity of variants.
Sahu S et al.
Plos Genetics, 2023
37713444 (PubMed )
Supplement: pgen.1010940.s008.xlsx › 11_codons
Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.
Aljarf R et al.
Scientific Reports, 2022
35729312 (PubMed )
Supplement: 41598_2022_13508_MOESM2_ESM.xlsx › Sheet1
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.
Burke LJ et al.
Human Mutation, 2018
Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition.
Santana Dos Santos E et al.
Cancers, 2018
Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants.
Fraile-Bethencourt E et al.
Breast Cancer Research and Treatment, 2018
Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition.
Dos Santos ES et al.
Breast Cancer Research and Treatment, 2018
In silico investigation of the impact of synonymous variants in ABCB4 gene on mRNA stability/structure, splicing accuracy and codon usage: Potential contribution to PFIC3 disease.
Khabou B et al.
Computational Biology and Chemistry, 2016
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