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Open AccessGenome-wide association study of germline variants and breast cancer-specific mortality
We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry.
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Prognostic impact of surgery for early-stage invasive breast cancer on breast cancer-specific survival, overall survival, and recurrence risk: a population-based analysis
Recent cohort studies demonstrated better overall survival (OS) or breast cancer-specific survival (BCS) for breast-conserving therapy (BCT) followed by radiation (RT) compared to mastectomy alone (MT). This i...
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A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer
The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknow...
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Correction: Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation
Nature Communications 5: Article number: 4999 (2014); Published: 23 September 2014; Updated: 10 April 2018 The original version of this Article had an incorrect volume number of 4; it should have been 5. This ...
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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Roger Milne and colleagues conduct a genome-wide association study for estrogen receptor (ER)-negative breast cancer combined with BRCA1 mutation carriers in a large cohort. They identify ten new risk variants an...
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Association analysis identifies 65 new breast cancer risk loci
Association analysis identifies 65 new breast cancer risk loci, predicts target genes for known risk loci and demonstrates a strong overlap with somatic driver genes in breast tumours.
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Open AccessAnti-nuclear autoantibodies in the general German population: prevalence and lack of association with selected cardiovascular and metabolic disorders—findings of a multicenter population-based study
We determined the prevalence of anti-nuclear autoantibodies (ANAs) in the German adult population and examined the association between ANAs and cardiovascular and metabolic disorders.
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Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
John Perry, Ken Ong and colleagues analyze genotype data on ∼370,000 women and identify 389 independent signals that associate with age at menarche, implicating ∼250 genes. Their analyses suggest causal invers...
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Open AccessDetermination of nasal and oropharyngeal microbiomes in a multicenter population-based study – findings from Pretest 1 of the German National Cohort
We examined acceptability, preference and feasibility of collecting nasal and oropharyngeal swabs, followed by microbiome analysis, in a population-based study with 524 participants. Anterior nasal and orophar...
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Open AccessFunctional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls an...
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Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry
Type 2 diabetes (T2D) has been reported to be associated with an elevated risk of breast cancer. It is unclear, however, whether this association is due to shared genetic factors.
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Open AccessIdentification of four novel susceptibility loci for oestrogen receptor negative breast cancer
Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10−8) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated...
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Open AccessGenetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium
Immunosuppression plays a pivotal role in assisting tumors to evade immune destruction and promoting tumor development. We hypothesized that genetic variation in the immunosuppression pathway genes may be impl...
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Open AccessA polymorphism in the base excision repair gene PARP2 is associated with differential prognosis by chemotherapy among postmenopausal breast cancer patients
Personalized therapy considering clinical and genetic patient characteristics will further improve breast cancer survival. Two widely used treatments, chemotherapy and radiotherapy, can induce oxidative DNA da...
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Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair
John Perry and colleagues report the results of a large genome-wide association study meta-analysis to identify variants influencing age at natural menopause. They identify 54 independent signals and find enri...
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Open AccessCommon germline polymorphisms associated with breast cancer-specific survival
Previous studies have identified common germline variants nominally associated with breast cancer survival. These associations have not been widely replicated in further studies. The purpose of this study was ...
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Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer
Doug Easton and colleagues report the results of a large-scale genome-wide association study of breast cancer. They discover 15 new susceptibility loci and highlight likely target genes in several of the newly...
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Open AccessRefined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia
The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have ...
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Open AccessEvaluation of a questionnaire to assess selected infectious diseases and their risk factors
The risk to die from an infectious disease in Germany has been continuously decreasing over the last century. Since infections are, however, not only causes of death but risk factors for diseases like cardiova...
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Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
Here 106 genomic loci associated with age at menarche, a marker of puberty timing in females, are identified; these loci show enrichment for genes involved in nuclear hormone receptor function, body mass index...