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Systematic minigene-based splicing analysis and tentative clinical classification of 52 CHEK2 splice-site variants
Contralateral breast cancer risk in patients with breast cancer and a germline-BRCA1/2 pathogenic variant undergoing radiation
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants
Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
Polygenic risk modeling for prediction of epithelial ovarian cancer risk
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants
Breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers using polygenic risk scores
RAD51D aberrant splicing in breast cancer
Breast cancer risk genes
Comprehensive functional characterization and clinical interpretation of 20 splice-site variants of the RAD51C gene
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Correction
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status
Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
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