Published in Hum Mol Genet on February 15, 2001
Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet (2004) 4.61
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. J Med Genet (2004) 2.40
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Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? Breast Cancer Res (2007) 1.61
Understanding missense mutations in the BRCA1 gene: an evolutionary approach. Proc Natl Acad Sci U S A (2003) 1.55
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The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families. Cancer Res (2008) 1.24
A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history. Breast Cancer Res (2009) 1.22
A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. Cancer Epidemiol Biomarkers Prev (2011) 1.15
Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain. Fam Cancer (2006) 1.15
Functional assays for BRCA1 and BRCA2. Int J Biochem Cell Biol (2006) 1.15
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. J Med Genet (2012) 1.13
Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. Nucleic Acids Res (2011) 1.11
Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population. Int J Med Sci (2012) 1.04
BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families. Fam Cancer (2006) 1.00
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. Eur J Hum Genet (2008) 1.00
Classification of Missense Mutations of Disease Genes. J Am Stat Assoc (2005) 0.99
Toward classification of BRCA1 missense variants using a biophysical approach. J Biol Chem (2010) 0.97
Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes. Breast Cancer Res (2012) 0.92
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1. Mutat Res (2008) 0.91
BRCA1 Circos: a visualisation resource for functional analysis of missense variants. J Med Genet (2015) 0.88
BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients. Fam Cancer (2012) 0.88
Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer. BMC Cancer (2004) 0.88
The Clinical Significance of Unknown Sequence Variants in BRCA Genes. Cancers (Basel) (2010) 0.88
Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore. PLoS One (2013) 0.87
Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients. Breast Cancer Res (2008) 0.87
BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression. PLoS Genet (2008) 0.87
BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African. Dis Markers (2015) 0.87
BRCT domains: A little more than kin, and less than kind. FEBS Lett (2012) 0.86
Sequence Variants of BRCA1 and BRCA2 Genes in Four Iranian Families with Breast and Ovarian Cancer. Iran J Public Health (2011) 0.85
Natural selection and mammalian BRCA1 sequences: elucidating functionally important sites relevant to breast cancer susceptibility in humans. Mamm Genome (2006) 0.85
Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del. Cancer Res (2009) 0.82
RAP80 responds to DNA damage induced by both ionizing radiation and UV irradiation and is phosphorylated at Ser 205. Cancer Res (2008) 0.82
Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1. PLoS One (2014) 0.81
A multi-exonic BRCA1 deletion identified in multiple families through single nucleotide polymorphism haplotype pair analysis and gene amplification with widely dispersed primer sets. J Mol Diagn (2005) 0.79
Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes. Int J Breast Cancer (2016) 0.79
Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic. Breast Cancer Res Treat (2015) 0.79
BRCA1 haploinsufficiency leads to altered expression of genes involved in cellular proliferation and development. PLoS One (2014) 0.78
Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2. PLoS One (2013) 0.78
Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations. Fam Cancer (2010) 0.78
BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan. Fam Cancer (2014) 0.77
When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans. Hered Cancer Clin Pract (2016) 0.77
The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer. PLoS One (2014) 0.77
Two BRCA1/2 founder mutations in Jews of Sephardic origin. Fam Cancer (2011) 0.76
Roles of DNA mutation in the coding region and DNA methylation in the 5' flanking region of BRCA1 in canine mammary tumors. J Vet Med Sci (2016) 0.75
Host Cell Reactivation and Transcriptional Activation of Carboplatin-Modified BRCA1. Breast Cancer (Auckl) (2014) 0.75
Correction: functional analysis of BRCA1 M1628V variant. J Med Genet (2007) 0.75
Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. PLoS Genet (2016) 0.75
Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18. PLoS Genet (2017) 0.75
Predicting phenotype from genotype: Improving accuracy through more robust experimental and computational modeling. Hum Mutat (2017) 0.75
Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort. Fam Cancer (2017) 0.75
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Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. Cancer Res (2000) 1.21
BRCA1 interaction with RNA polymerase II reveals a role for hRPB2 and hRPB10alpha in activated transcription. Proc Natl Acad Sci U S A (2000) 1.06
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