We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER(+) or ER(-)) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER(-) tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor a) in 11...
Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), impli...
The breast cancer risk variants identified in genome-wide association studies explain only a small f...
Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibi...
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 11...
Estrogen receptor (ER)-negative breast cancer shows a higher incidence in women of African ancestry ...
Genome wide association studies (GWAS) and large scale replication studies have identified common va...
Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regi...
Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele fr...
Genome-wide association studies have identified 20 genomic regions associated with risk of epithelia...
Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we...
Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified...
Background: Genome-wide association studies (GWAS) have identified multiple common breast cancer sus...
BACKGROUND: Genome-wide association studies (GWAS) have identified multiple common breast cancer sus...
We recently identified a novel susceptibility variant, rs865686, for estrogen-receptor positive brea...
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor a) in 11...
Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), impli...
The breast cancer risk variants identified in genome-wide association studies explain only a small f...
Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibi...
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 11...
Estrogen receptor (ER)-negative breast cancer shows a higher incidence in women of African ancestry ...
Genome wide association studies (GWAS) and large scale replication studies have identified common va...
Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regi...
Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele fr...
Genome-wide association studies have identified 20 genomic regions associated with risk of epithelia...
Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we...
Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified...
Background: Genome-wide association studies (GWAS) have identified multiple common breast cancer sus...
BACKGROUND: Genome-wide association studies (GWAS) have identified multiple common breast cancer sus...
We recently identified a novel susceptibility variant, rs865686, for estrogen-receptor positive brea...
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor a) in 11...
Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), impli...
The breast cancer risk variants identified in genome-wide association studies explain only a small f...