Common genetic variation and breast cancer risk—past, present, and future

J Lilyquist, KJ Ruddy, CM Vachon, FJ Couch - … Epidemiology, Biomarkers & …, 2018 - AACR
Breast cancer is the most common cancer among women in the United States, with up to
30% of those diagnosed displaying a family history of breast cancer. To date, 18% of the …

[HTML][HTML] The genetics of breast cancer risk in the post-genome era: thoughts on study design to move past BRCA and towards clinical relevance

AD Skol, MM Sasaki, K Onel - Breast Cancer Research, 2016 - Springer
More than 12% of women will be diagnosed with breast cancer in their lifetime. Although
there have been tremendous advances in elucidating genetic risk factors underlying both …

Association of a polygenic risk score with breast cancer among women carriers of high-and moderate-risk breast cancer genes

S Gallagher, E Hughes, S Wagner, P Tshiaba… - JAMA network …, 2020 - jamanetwork.com
Importance To date, few studies have examined the extent to which polygenic single-
nucleotide variation (SNV)(formerly single-nucleotide polymorphism) scores modify risk for …

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

K Michailidou, J Beesley, S Lindstrom, S Canisius… - Nature …, 2015 - nature.com
Genome-wide association studies (GWAS) and large-scale replication studies have
identified common variants in 79 loci associated with breast cancer, explaining∼ 14% of the …

[HTML][HTML] Risk of breast cancer among carriers of pathogenic variants in breast cancer predisposition genes varies by polygenic risk score

C Gao, EC Polley, SN Hart, H Huang, C Hu… - Journal of Clinical …, 2021 - ncbi.nlm.nih.gov
PURPOSE This study assessed the joint association of pathogenic variants (PVs) in breast
cancer (BC) predisposition genes and polygenic risk scores (PRS) with BC in the general …

[HTML][HTML] Inherited genetic susceptibility to breast cancer: the beginning of the end or the end of the beginning?

M Ghoussaini, PDP Pharoah, DF Easton - The American journal of …, 2013 - Elsevier
Genome-wide association studies have identified 72 loci associated with breast cancer
susceptibility. Seventeen of these are known to predispose to other cancers. High …

[HTML][HTML] Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

N Wilcox, M Dumont, A González-Neira, S Carvalho… - Nature …, 2023 - nature.com
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 …

[PDF][PDF] A comprehensive cis-eQTL analysis revealed target genes in breast cancer susceptibility loci identified in genome-wide association studies

X Guo, W Lin, J Bao, Q Cai, X Pan, M Bai… - The American Journal of …, 2018 - cell.com
Genome-wide association studies (GWASs) have identified more than 150 common genetic
loci for breast cancer risk. However, the target genes and underlying mechanisms remain …

[PDF][PDF] Genome-and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics

G Jia, J Ping, X Shu, Y Yang, Q Cai, SS Kweon… - The American Journal of …, 2022 - cell.com
By combining data from 160,500 individuals with breast cancer and 226,196 controls of
Asian and European ancestry, we conducted genome-and transcriptome-wide association …

Polygenic susceptibility to breast cancer: current state-of-the-art

M Ghoussaini, PDP Pharoah - Future oncology, 2009 - Future Medicine
Breast cancer is the most commonly occurring invasive cancer among women and its
estimated incidence rate worldwide is approximately 1 million cases annually. Although …