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Article
Disentangling the relationships of body mass index and circulating sex hormone concentrations in mammographic density using Mendelian randomization
Mammographic density phenotypes, adjusted for age and body mass index (BMI), are strong predictors of breast cancer risk. BMI is associated with mammographic density measures, but the role of circulating sex h...
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Article
Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
The transferability and clinical value of genetic risk scores (GRSs) across populations remain limited due to an imbalance in genetic studies across ancestrally diverse populations. Here we conducted a multi-a...
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Article
Open AccessAuthor Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
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Article
Open AccessPolymorphisms in genes of melatonin biosynthesis and signaling support the light-at-night hypothesis for breast cancer
Light-at-night triggers the decline of pineal gland melatonin biosynthesis and secretion and is an IARC-classified probable breast-cancer risk factor. We applied a large-scale molecular epidemiology approach t...
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Article
Open AccessExome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
Linkage and candidate gene studies have identified several breast cancer susceptibility genes, but the overall contribution of coding variation to breast cancer is unclear. To evaluate the role of rare coding ...
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Article
Open AccessA genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry
Genome-wide studies of gene–environment interactions (G×E) may identify variants associated with disease risk in conjunction with lifestyle/environmental exposures. We conducted a genome-wide G×E analysis of ~...
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Article
Open AccessPREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants
We assessed the PREDICT v 2.2 for prognosis of breast cancer patients with pathogenic germline BRCA1 and BRCA2 variants, using follow-up data from 5453 BRCA1/2 carriers from the Consortium of Investigators of Mod...
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Article
Open AccessAggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes.
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Article
Open AccessRelevance of the MHC region for breast cancer susceptibility in Asians
Human leukocyte antigen (HLA) genes play critical roles in immune surveillance, an important defence against tumors. Imputing HLA genotypes from existing single-nucleotide polymorphism datasets is low-cost and...
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Article
Open AccessBreast cancer risks associated with missense variants in breast cancer susceptibility genes
Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain.
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Article
Open AccessOverlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification
Family history, and genetic and non-genetic risk factors can stratify women according to their individual risk of develo** breast cancer. The extent of overlap between these risk predictors is not clear.
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Article
Open AccessGenome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women
Use of menopausal hormone therapy (MHT) is associated with increased risk for breast cancer. However, the relevant mechanisms and its interaction with genetic variants are not fully understood. We conducted a ...
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Article
Open AccessGenome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci
Mammographic density (MD) phenotypes, including percent density (PMD), area of dense tissue (DA), and area of non-dense tissue (NDA), are associated with breast cancer risk. Twin studies suggest that MD phenot...
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Article
First international workshop of the ATM and cancer risk group (4-5 December 2019)
The first International Workshop of the ATM and Cancer Risk group focusing on the role of Ataxia-Telangiectasia Mutated (ATM) gene in cancer was held on December 4 and 5, 2019 at Institut Curie in Paris, France. ...
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Article
Open AccessA genome-wide association study of radiotherapy induced toxicity in head and neck cancer patients identifies a susceptibility locus associated with mucositis
A two-stage genome-wide association study was carried out in head and neck cancer (HNC) patients aiming to identify genetic variants associated with either specific radiotherapy-induced (RT) toxicity endpoints...
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Article
Open AccessRare germline copy number variants (CNVs) and breast cancer risk
Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes...
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Article
Open AccessCommon variants in breast cancer risk loci predispose to distinct tumor subtypes
Genome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how the...
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Article
Open AccessGermline breast cancer susceptibility genes, tumor characteristics, and survival
Mutations in certain genes are known to increase breast cancer risk. We study the relevance of rare protein-truncating variants (PTVs) that may result in loss-of-function in breast cancer susceptibility genes ...
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Article
Open AccessGermline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis
Breast cancer metastasis accounts for most of the deaths from breast cancer. Identification of germline variants associated with survival in aggressive types of breast cancer may inform understanding of breast...
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Article
Open AccessMendelian randomisation study of smoking exposure in relation to breast cancer risk
Despite a modest association between tobacco smoking and breast cancer risk reported by recent epidemiological studies, it is still equivocal whether smoking is causally related to breast cancer risk.
