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Advanced Search Results For "Easton, Thomas"

1 - 10 of 1,081 results for
 "Easton, Thomas"
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Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

Publication Type: Academic Journal

Source(s): Genome Medicine, Vol 15, Iss 1, Pp 1-18 (2023)

Abstract: Abstract Background 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. Methods We evaluated the poten...

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Publication Type: Academic Journal

Source(s): Communications Biology, Vol 5, Iss 1, Pp 1-15 (2022)

Abstract: The risk of germline copy number variants (CNVs) in BRCA1 and BRCA2 pathogenic variant carriers in breast cancer is assessed, with CNVs overlapping SULT1A1 decreasing breast cancer risk in BRCA1 carriers.

Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women

Publication Type: Academic Journal

Source(s): Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)

Abstract: Abstract 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 genome-wide interaction analysis b...

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Acute seizure risk in patients with encephalitis: development and validation of clinical prediction models from two independent prospective multicentre cohorts

Publication Type: Academic Journal

Source(s): BMJ Neurology Open, Vol 4, Iss 2 (2022)

Abstract: Objective In patients with encephalitis, the development of acute symptomatic seizures is highly variable, but when present is associated with a worse outcome. We aimed to determine the factors associated with seizures in encephalitis and develop a cli...

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

Publication Type: Academic Journal

Source(s): Genome Medicine, Vol 14, Iss 1, Pp 1-17 (2022)

Abstract: Abstract Background 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. Methods We analyzed data on 59,639 breast...

Common variants in breast cancer risk loci predispose to distinct tumor subtypes

Publication Type: Academic Journal

Source(s): Breast Cancer Research, Vol 24, Iss 1, Pp 1-13 (2022)

Abstract: Abstract Background 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 these variants relate with...

Rare germline copy number variants (CNVs) and breast cancer risk

Publication Type: Academic Journal

Source(s): Communications Biology, Vol 5, Iss 1, Pp 1-15 (2022)

Abstract: Dennis et al. investigate potential breast cancer associations with rare germline copy number variants (CNVs) by conducting a genome-wide analysis in a large breast cancer case-control dataset. The authors detected associations with exonic deletions in...

Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

Publication Type: Academic Journal

Source(s): Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)

Abstract: Abstract 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 cancer progression and assist tre...

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Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

Publication Type: Academic Journal

Source(s): Breast Cancer Research, Vol 23, Iss 1, Pp 1-18 (2021)

Abstract: Abstract Background Given the high heterogeneity among breast tumors, associations between common germline genetic variants and survival that may exist within specific subgroups could go undetected in an unstratified set of breast cancer patients. Meth...

Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women

Publication Type: Academic Journal

Source(s): Nature Communications, Vol 12, Iss 1, Pp 1-8 (2021)

Abstract: GWAS have enhanced our understanding for the genetic basis of breast cancer, but the majority of them were performed for European ancestry populations. Here, the authors use a cross-ancestry approach and report seven new variants associated with breast...

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