Benefits and limitations of genome-wide association studies

V Tam, N Patel, M Turcotte, Y Bossé, G Paré… - Nature Reviews …, 2019 - nature.com
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

Epidemiological characteristics of and risk factors for breast cancer in the world

Z Momenimovahed, H Salehiniya - Breast Cancer: Targets and …, 2019 - Taylor & Francis
Aim Breast cancer is the most common cancer among women and one of the most important
causes of death among them. This review aimed to investigate the incidence and mortality …

Polygenic risk scores for prediction of breast cancer and breast cancer subtypes

N Mavaddat, K Michailidou, J Dennis, M Lush… - The American Journal of …, 2019 - cell.com
Stratification of women according to their risk of breast cancer based on polygenic risk
scores (PRSs) could improve screening and prevention strategies. Our aim was to develop …

BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors

A Lee, N Mavaddat, AN Wilcox, AP Cunningham… - Genetics in …, 2019 - nature.com
Purpose Breast cancer (BC) risk prediction allows systematic identification of individuals at
highest and lowest risk. We extend the Breast and Ovarian Analysis of Disease Incidence …

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

H Zhang, TU Ahearn, J Lecarpentier, D Barnes… - Nature …, 2020 - nature.com
Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor
subtype,–. To identify novel loci, we performed a genome-wide association study including …

Personalized early detection and prevention of breast cancer: ENVISION consensus statement

N Pashayan, AC Antoniou, U Ivanus… - Nature reviews Clinical …, 2020 - nature.com
Abstract The European Collaborative on Personalized Early Detection and Prevention of
Breast Cancer (ENVISION) brings together several international research consortia working …

Genetic predisposition to mosaic Y chromosome loss in blood

DJ Thompson, G Genovese, J Halvardson, JC Ulirsch… - Nature, 2019 - nature.com
Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common
form of clonal mosaicism,,,–, yet our knowledge of the causes and consequences of this is …

Genetic causal association between iron status and osteoarthritis: a two-sample mendelian randomization

J Xu, S Zhang, Y Tian, H Si, Y Zeng, Y Wu, Y Liu, M Li… - Nutrients, 2022 - mdpi.com
Objective: Observational studies have shown the association between iron status and
osteoarthritis (OA). However, due to difficulties of determining sequential temporality, their …

Identification of nine new susceptibility loci for endometrial cancer

TA O'mara, DM Glubb, F Amant, D Annibali… - Nature …, 2018 - nature.com
Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract
in developed countries. Through genome-wide association studies (GWAS), we have …

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

L Fachal, H Aschard, J Beesley, DR Barnes, J Allen… - Nature …, 2020 - nature.com
Genome-wide association studies have identified breast cancer risk variants in over 150
genomic regions, but the mechanisms underlying risk remain largely unknown. These …