Published in J Med Genet on August 01, 2012
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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet (2013) 2.44
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. J Clin Oncol (2014) 2.25
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. Cancer Discov (2014) 1.80
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BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management. Oncologist (2013) 1.15
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BRCA2 hypomorphic missense variants confer moderate risks of breast cancer. Cancer Res (2017) 0.91
Long-term prognosis of early-onset breast cancer in a population-based cohort with a known BRCA1/2 mutation status. Breast Cancer Res Treat (2014) 0.84
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BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance. Ann Oncol (2015) 0.82
The role of epigenetic transcriptional regulation in BRCA1-mediated tumor suppression. Transcription (2012) 0.81
Understanding of BRCA VUS genetic results by breast cancer specialists. BMC Cancer (2015) 0.81
Genomic Biomarkers for Breast Cancer Risk. Adv Exp Med Biol (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
PALB2: research reaching to clinical outcomes for women with breast cancer. Hered Cancer Clin Pract (2016) 0.75
DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer. Epigenetics (2015) 0.75
Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort. Fam Cancer (2017) 0.75
Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A (1984) 48.41
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet (2003) 18.67
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat (2008) 5.52
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) 5.17
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet (2005) 4.98
Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet (2004) 4.61
The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer (2004) 4.06
The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer (2008) 3.87
Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics. J Med Genet (2008) 2.81
Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Res (2006) 2.79
Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. Hum Mutat (2008) 2.69
Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. Nat Struct Biol (2001) 2.56
Genetic evidence and integration of various data sources for classifying uncertain variants into a single model. Hum Mutat (2008) 2.55
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. Hum Mol Genet (2001) 2.19
Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators. J Clin Oncol (2008) 1.81
Functional assays for classification of BRCA2 variants of uncertain significance. Cancer Res (2008) 1.79
Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155. Nat Med (2011) 1.79
Rare BRCA1 haplotypes including 3'UTR SNPs associated with breast cancer risk. Cell Cycle (2011) 1.64
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. Cancer Res (2010) 1.62
Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? Breast Cancer Res (2007) 1.61
Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance. J Clin Oncol (2008) 1.56
Rare variants in the ATM gene and risk of breast cancer. Breast Cancer Res (2011) 1.36
Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs. Hum Mutat (2011) 1.31
Incorporating tumour pathology information into breast cancer risk prediction algorithms. Breast Cancer Res (2010) 1.28
Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants. J Med Genet (2005) 1.25
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
Functional polymorphisms in the BRCA1 promoter influence transcription and are associated with decreased risk for breast cancer in Chinese women. J Med Genet (2008) 1.22
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity. Hum Mutat (2010) 1.13
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members. Breast Cancer Res Treat (2011) 1.11
Characterization of BRCA1 ring finger variants of uncertain significance. Breast Cancer Res Treat (2009) 1.11
A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example. BMC Cancer (2009) 1.05
Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition. Biochemistry (2011) 1.01
Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. Hum Mutat (2011) 1.00
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. Hum Mol Genet (2011) 0.89
Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance. Hum Mutat (2010) 0.84
Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23
Intensive insulin therapy and pentastarch resuscitation in severe sepsis. N Engl J Med (2008) 19.93
Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci U S A (2005) 15.46
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst (2004) 14.97
Toll-like receptor 4-dependent contribution of the immune system to anticancer chemotherapy and radiotherapy. Nat Med (2007) 13.90
Mutational processes molding the genomes of 21 breast cancers. Cell (2012) 11.22
Aberrant luminal progenitors as the candidate target population for basal tumor development in BRCA1 mutation carriers. Nat Med (2009) 10.88
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet (2007) 10.81
The life history of 21 breast cancers. Cell (2012) 10.59
Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet (2010) 9.72
Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA (2010) 8.93
Strong time dependence of the 76-gene prognostic signature for node-negative breast cancer patients in the TRANSBIG multicenter independent validation series. Clin Cancer Res (2007) 8.41
Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial. Lancet (2010) 8.41
Validation and clinical utility of a 70-gene prognostic signature for women with node-negative breast cancer. J Natl Cancer Inst (2006) 8.38
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet (2008) 7.65
A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet (2007) 7.35
Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell (2006) 7.33
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet (2009) 6.91
Pharmacogenetics of tamoxifen biotransformation is associated with clinical outcomes of efficacy and hot flashes. J Clin Oncol (2005) 6.90
Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet (2011) 6.77
Activation of the NLRP3 inflammasome in dendritic cells induces IL-1beta-dependent adaptive immunity against tumors. Nat Med (2009) 6.73
Sequence variant on 8q24 confers susceptibility to urinary bladder cancer. Nat Genet (2008) 6.69
Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers. Nature (2008) 5.98
Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin Cancer Res (2005) 5.70
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat (2008) 5.52
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet (2010) 5.48
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) 5.17
Breast-cancer risk in families with mutations in PALB2. N Engl J Med (2014) 4.97
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet (2010) 4.96
Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med (2015) 4.77
Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet (2004) 4.61
Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies. J Natl Cancer Inst (2010) 4.54
Central nervous system metastases in women who receive trastuzumab-based therapy for metastatic breast carcinoma. Cancer (2003) 4.47
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell (2010) 4.37
The impact of cytochrome P450 2D6 metabolism in women receiving adjuvant tamoxifen. Breast Cancer Res Treat (2006) 4.35
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
New common variants affecting susceptibility to basal cell carcinoma. Nat Genet (2009) 4.15
Trends in mastectomy rates at the Mayo Clinic Rochester: effect of surgical year and preoperative magnetic resonance imaging. J Clin Oncol (2009) 4.13
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab (2005) 4.07
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nat Genet (2008) 3.90
Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst (2009) 3.89
Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA (2012) 3.85