- •BRCA1 p.Val1833Met is a disease-associated variant, more correlated with ovarian cancer.
- •The founder effect of p.Val1833Met variant is established revealing its Greek origin.
- •The estimated overall likelihood ratio (>1) adds further evidence in favor of causality.
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
- High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.Clin Genet. 2014; 85: 36-42https://doi.org/10.1111/cge.12274
- G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history.Breast Cancer Res Treat. 2008; 110: 377-385https://doi.org/10.1007/s10549-007-9729-y
- Breast cancer information core steering C. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.Am J Hum Genet. 2004; 75: 535-544https://doi.org/10.1086/424388
- A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.Am J Hum Genet. 2007; 81: 873-883https://doi.org/10.1086/521032
- The BRCT domain is a phospho-protein binding domain.Science. 2003; 302: 639-642https://doi.org/10.1126/science.1088753
- Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.PLoS ONE. 2013; 8: e58182https://doi.org/10.1371/journal.pone.0058182
- ClinVar: improving access to variant interpretations and supporting evidence.Nucleic Acids Res. 2018; 46: D1062-D1067https://doi.org/10.1093/nar/gkx1153
- BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.PLoS Genet. 2018; 14: e1007752https://doi.org/10.1371/journal.pgen.1007752
- Structure of an XRCC1 BRCT domain: a new protein-protein interaction module.EMBO J. 1998; 17: 6404-6411https://doi.org/10.1093/emboj/17.21.6404
- Characterisation of the BRCT domains of the breast cancer susceptibility gene product BRCA1.J Mol Biol. 2002; 320: 431-442
- Thermal unfolding of human BRCA1 BRCT-domain variants.Biochim Biophys Acta. 2007; 1774: 772-780https://doi.org/10.1016/j.bbapap.2007.03.018
- Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.Mutat Res. 2009; 660: 1-11https://doi.org/10.1016/j.mrfmmm.2008.09.017
- Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.Cancer Res. 2010; 70: 4880-4890https://doi.org/10.1158/0008-5472.CAN-09-4563
- Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation.Cancer Res. 2000; 60: 2411-2418
- Toward classification of BRCA1 missense variants using a biophysical approach.J Biol Chem. 2010; 285: 20080-20087https://doi.org/10.1074/jbc.M109.088922
- Functional characterization of BRCA1 sequence variants using a yeast small colony phenotype assay.Cancer Biol Ther. 2004; 3: 453-457
- Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.NPJ Genom Med. 2016; 1: 16001https://doi.org/10.1038/npjgenmed.2016.1
- Combining homologous recombination and phosphopeptide-binding data to predict the impact of BRCA1 BRCT variants on cancer risk.Mol Cancer Res. 2019; 17: 54-69https://doi.org/10.1158/1541-7786.MCR-17-0357
- Genetic/Familial high-risk Assessment: breast and Ovarian, version 2.2015.J Natl Compr Canc Netw. 2016; 14: 153-162
- A simple salting out procedure for extracting DNA from human nucleated cells.Nucl Acids Res. 1988; 16: 1215
- Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece.J Hum Genet. 2018; 63: 1149-1158https://doi.org/10.1038/s10038-018-0498-8
- Estimating allele age.Ann Rev Genomics Hum Genet. 2000; 1: 225-249https://doi.org/10.1146/annurev.genom.1.1.225
- A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.BMC Cancer. 2009; 9: 211https://doi.org/10.1186/1471-2407-9-211
- Haplotype analysis of two recurrent genomic rearrangements in the BRCA1 gene suggests they are founder mutations for the Greek population.Clin Genet. 2011; 80: 375-382https://doi.org/10.1111/j.1399-0004.2010.01532.x
- Haplotype analysis reveals that the recurrent BRCA1 deletion of exons 23 and 24 is a Greek founder mutation.Clin Genet. 2016; https://doi.org/10.1111/cge.12824
- Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: implications for clinical annotation.J Biol Chem. 2019; https://doi.org/10.1074/jbc.RA118.005274
- A. Germline missense variants in BRCA1: new trends and challenges for clinical annotation.Preprints. 2019; https://doi.org/10.20944/preprints201902.0090.v1
- Classification and clinical management of variants of uncertain significance in high penetrance cancer predisposition genes.Hum Mutat. 2016; 37: 331-336https://doi.org/10.1002/humu.22956
- Enigma. ENIGMA–evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.Hum Mutat. 2012; 33: 2-7https://doi.org/10.1002/humu.21628
- The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.J Med Genet. 2018; 55: 15-20https://doi.org/10.1136/jmedgenet-2017-104560
- Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val).Breast Cancer Res Treat. 2018; 172: 497-503https://doi.org/10.1007/s10549-018-4903-y
- NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017.J Natl Compr Canc Netw. 2017; 15: 9-20