Published in Nat Genet on September 19, 2010
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet (2010) 4.51
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat Genet (2013) 3.42
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet (2011) 3.37
Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet (2012) 3.20
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. Nat Genet (2015) 3.02
Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Lancet Oncol (2011) 2.85
Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet (2011) 2.72
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum Mol Genet (2012) 2.45
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39
The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing. Clin Cancer Res (2011) 2.09
Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer. PLoS Genet (2012) 1.91
The BRCA1-RAP80 complex regulates DNA repair mechanism utilization by restricting end resection. J Biol Chem (2011) 1.91
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet (2013) 1.88
Inherited variation at chromosome 12p13.33, including RAD52, influences the risk of squamous cell lung carcinoma. Cancer Discov (2011) 1.87
19p13.1 is a triple-negative-specific breast cancer susceptibility locus. Cancer Res (2012) 1.81
Common breast cancer susceptibility loci are associated with triple-negative breast cancer. Cancer Res (2011) 1.65
A subset-based approach improves power and interpretation for the combined analysis of genetic association studies of heterogeneous traits. Am J Hum Genet (2012) 1.57
Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium. Hum Mol Genet (2011) 1.56
Genome-wide association study identifies breast cancer risk variant at 10q21.2: results from the Asia Breast Cancer Consortium. Hum Mol Genet (2011) 1.55
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2011) 1.51
Genetic susceptibility to triple-negative breast cancer. Cancer Res (2013) 1.48
Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nat Genet (2015) 1.47
Breast Cancer Risk - Genes, Environment and Clinics. Geburtshilfe Frauenheilkd (2011) 1.47
Fine-mapping of breast cancer susceptibility loci characterizes genetic risk in African Americans. Hum Mol Genet (2011) 1.45
Replication of breast cancer GWAS susceptibility loci in the Women's Health Initiative African American SHARe Study. Cancer Epidemiol Biomarkers Prev (2011) 1.41
Evaluation of 19 susceptibility loci of breast cancer in women of African ancestry. Carcinogenesis (2012) 1.38
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Breast Cancer Res (2012) 1.38
11q13 is a susceptibility locus for hormone receptor positive breast cancer. Hum Mutat (2012) 1.26
Novel genetic markers of breast cancer survival identified by a genome-wide association study. Cancer Res (2012) 1.24
Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany. J Community Genet (2011) 1.23
Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium. Hum Mol Genet (2014) 1.22
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res (2011) 1.22
Targeting the HER/EGFR/ErbB family to prevent breast cancer. Cancer Prev Res (Phila) (2011) 1.21
Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers. PLoS One (2011) 1.20
GWAS identifies a common breast cancer risk allele among BRCA1 carriers. Nat Genet (2010) 1.19
Hereditary breast and ovarian cancer: new genes, new treatments, new concepts. Dtsch Arztebl Int (2011) 1.17
Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev (2012) 1.17
Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25. Nat Commun (2014) 1.16
NBA1/MERIT40 and BRE interaction is required for the integrity of two distinct deubiquitinating enzyme BRCC36-containing complexes. J Biol Chem (2011) 1.14
Population sciences, translational research, and the opportunities and challenges for genomics to reduce the burden of cancer in the 21st century. Cancer Epidemiol Biomarkers Prev (2011) 1.13
Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer. PLoS Biol (2011) 1.12
Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study. Br J Cancer (2012) 1.12
Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis. J Natl Cancer Inst (2014) 1.11
The contributions of breast density and common genetic variation to breast cancer risk. J Natl Cancer Inst (2015) 1.11
A genome-wide association study of breast cancer in women of African ancestry. Hum Genet (2012) 1.11
Evaluating genome-wide association study-identified breast cancer risk variants in African-American women. PLoS One (2013) 1.10
Genetic susceptibility loci for subtypes of breast cancer in an African American population. Cancer Epidemiol Biomarkers Prev (2012) 1.10
A role for XRCC2 gene polymorphisms in breast cancer risk and survival. J Med Genet (2011) 1.10
Comprehensive functional annotation of seventy-one breast cancer risk Loci. PLoS One (2013) 1.10
Breast cancer risks and risk prediction models. Breast Care (Basel) (2015) 1.07
Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions. Sci Transl Med (2012) 1.07
The risk of breast cancer in women with a BRCA1 mutation from North America and Poland. Int J Cancer (2011) 1.06
Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes. Cancer Res (2011) 1.05
BRCA1 tumor suppressor network: focusing on its tail. Cell Biosci (2012) 1.03
PARP1-driven poly-ADP-ribosylation regulates BRCA1 function in homologous recombination-mediated DNA repair. Cancer Discov (2014) 1.02
A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium. Hum Mol Genet (2013) 1.00
Breast Cancer Risk - From Genetics to Molecular Understanding of Pathogenesis. Geburtshilfe Frauenheilkd (2013) 1.00
Hereditary breast cancer: ever more pieces to the polygenic puzzle. Hered Cancer Clin Pract (2013) 0.99
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Hum Mutat (2012) 0.98
Gene-gene interactions in breast cancer susceptibility. Hum Mol Genet (2011) 0.97
FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium. Br J Cancer (2014) 0.96
9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium. Cancer Epidemiol Biomarkers Prev (2012) 0.95
Genetic predisposition to in situ and invasive lobular carcinoma of the breast. PLoS Genet (2014) 0.95
New genetic variants improve personalized breast cancer diagnosis. AMIA Jt Summits Transl Sci Proc (2014) 0.95
Fine mapping of breast cancer genome-wide association studies loci in women of African ancestry identifies novel susceptibility markers. Carcinogenesis (2013) 0.95
Common breast cancer risk variants in the post-COGS era: a comprehensive review. Breast Cancer Res (2013) 0.94
Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21. Oncotarget (2016) 0.93
Genetic variants at chromosomes 2q35, 5p12, 6q25.1, 10q26.13, and 16q12.1 influence the risk of breast cancer in men. PLoS Genet (2011) 0.92
A comprehensive examination of breast cancer risk loci in African American women. Hum Mol Genet (2014) 0.92
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nat Genet (2016) 0.92
Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types. Cancer Discov (2016) 0.90
Estimating single nucleotide polymorphism associations using pedigree data: applications to breast cancer. Br J Cancer (2013) 0.90
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nat Commun (2016) 0.89
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. Hum Mol Genet (2011) 0.89
Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci. Hum Mol Genet (2015) 0.88
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers. PLoS Genet (2014) 0.88
2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy. Nat Commun (2014) 0.87
STaRRRT: a table of short tandem repeats in regulatory regions of the human genome. BMC Genomics (2013) 0.86
Percent Mammographic Density and Dense Area as Risk Factors for Breast Cancer. Geburtshilfe Frauenheilkd (2012) 0.86
Rat Mcs1b is concordant to the genome-wide association-identified breast cancer risk locus at human 5q11.2 and MIER3 is a candidate cancer susceptibility gene. Cancer Res (2012) 0.85
Breast Cancer Update 2014 - Focus on the Patient and the Tumour. Geburtshilfe Frauenheilkd (2015) 0.85
A common copy-number breakpoint of ERBB2 amplification in breast cancer colocalizes with a complex block of segmental duplications. Breast Cancer Res (2012) 0.84
Genotype in BRCA-associated breast cancers. Breast J (2012) 0.84
Genome-wide association study identifies four loci associated with eruption of permanent teeth. PLoS Genet (2011) 0.84
Genetic variation in IGF2 and HTRA1 and breast cancer risk among BRCA1 and BRCA2 carriers. Cancer Epidemiol Biomarkers Prev (2011) 0.84
Modern reproductive patterns associated with estrogen receptor positive but not negative breast cancer susceptibility. Evol Med Public Health (2014) 0.84
Cancer heterogeneity: origins and implications for genetic association studies. Trends Genet (2012) 0.83
Lamina-associated polypeptide (LAP)2α and other LEM proteins in cancer biology. Adv Exp Med Biol (2014) 0.83
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus. Nat Commun (2016) 0.82
Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers. Breast Cancer Res (2010) 0.82
The Role of Constitutional Copy Number Variants in Breast Cancer. Microarrays (Basel) (2015) 0.82
Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers. PLoS One (2015) 0.82
A common variant in the SIAH2 locus is associated with estrogen receptor-positive breast cancer in the Chinese Han population. PLoS One (2013) 0.82
Identification of shared and unique susceptibility pathways among cancers of the lung, breast, and prostate from genome-wide association studies and tissue-specific protein interactions. Hum Mol Genet (2015) 0.81
Metabotropic glutamate receptor 1 expression and its polymorphic variants associate with breast cancer phenotypes. PLoS One (2013) 0.81
The genetics of breast cancer: risk factors for disease. Appl Clin Genet (2011) 0.81
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev (2014) 0.80
MERIT40 Is an Akt Substrate that Promotes Resolution of DNA Damage Induced by Chemotherapy. Cell Rep (2015) 0.80
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature (2007) 144.95
Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet (2007) 22.96
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
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet (2007) 10.81
Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet (2008) 7.65
Overcoming the winner's curse: estimating penetrance parameters from case-control data. Am J Hum Genet (2007) 6.99
The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol (2002) 6.16
Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin Cancer Res (2005) 5.70
A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat Genet (2001) 5.02
The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer (2008) 3.87
RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet (2007) 3.63
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet (2008) 3.41
Variation of breast cancer risk among BRCA1/2 carriers. JAMA (2008) 3.30
NBA1, a new player in the Brca1 A complex, is required for DNA damage resistance and checkpoint control. Genes Dev (2009) 3.23
MERIT40 controls BRCA1-Rap80 complex integrity and recruitment to DNA double-strand breaks. Genes Dev (2009) 2.67
MERIT40 facilitates BRCA1 localization and DNA damage repair. Genes Dev (2009) 2.49
The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. Hum Mol Genet (2002) 2.38
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2009) 2.13
Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. Proc Natl Acad Sci U S A (2006) 1.99
A BRCA1 nonsense mutation causes exon skipping. Am J Hum Genet (1998) 1.77
The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon. Hum Mutat (2006) 1.58
The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain. Clin Cancer Res (2008) 1.43
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Mutations of the BRAF gene in human cancer. Nature (2002) 65.42
A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36
PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet (2003) 53.59
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (2007) 51.70
The structure of haplotype blocks in the human genome. Science (2002) 50.88
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res (2010) 43.51
Patterns of somatic mutation in human cancer genomes. Nature (2007) 38.41
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Common SNPs explain a large proportion of the heritability for human height. Nat Genet (2010) 35.02
Mortality results from a randomized prostate-cancer screening trial. N Engl J Med (2009) 30.05
Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Efficiency and power in genetic association studies. Nat Genet (2005) 25.56
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet (2007) 22.96
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Detecting recent positive selection in the human genome from haplotype structure. Nature (2002) 22.00
Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66
International network of cancer genome projects. Nature (2010) 20.35
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet (2008) 19.55
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res (2007) 19.07
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12
Lapatinib plus capecitabine for HER2-positive advanced breast cancer. N Engl J Med (2006) 17.08
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Assessing the impact of population stratification on genetic association studies. Nat Genet (2004) 16.28
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
Clinical efficacy of a RAF inhibitor needs broad target blockade in BRAF-mutant melanoma. Nature (2010) 16.12
Replicating genotype-phenotype associations. Nature (2007) 16.11
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet (2008) 15.89
Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci U S A (2005) 15.46
Multiple newly identified loci associated with prostate cancer susceptibility. Nat Genet (2008) 15.43
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
Calibrating a coalescent simulation of human genome sequence variation. Genome Res (2005) 15.04
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst (2004) 14.97
Evaluating and improving power in whole-genome association studies using fixed marker sets. Nat Genet (2006) 14.76
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Rare variants create synthetic genome-wide associations. PLoS Biol (2010) 14.43
Multiple regions within 8q24 independently affect risk for prostate cancer. Nat Genet (2007) 14.37
Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease. Nat Genet (2004) 14.31
The tuberous sclerosis complex. N Engl J Med (2006) 13.53
Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. Lancet Oncol (2010) 13.25
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs. Hum Mol Genet (2006) 13.16
Acquired resistance to BRAF inhibitors mediated by a RAF kinase switch in melanoma can be overcome by cotargeting MEK and IGF-1R/PI3K. Cancer Cell (2010) 12.50
Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44
The IARC TP53 database: new online mutation analysis and recommendations to users. Hum Mutat (2002) 12.39
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet (2008) 12.32
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. N Engl J Med (2007) 12.24
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10
Methods for high-density admixture mapping of disease genes. Am J Hum Genet (2004) 12.02
Prostate cancer screening in the randomized Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial: mortality results after 13 years of follow-up. J Natl Cancer Inst (2012) 11.91
A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet (2007) 11.62
Colorectal-cancer incidence and mortality with screening flexible sigmoidoscopy. N Engl J Med (2012) 11.48
Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet Epidemiol (2008) 11.28