Genome-wide association studies of cancer: current insights and future perspectives

A Sud, B Kinnersley, RS Houlston - Nature Reviews Cancer, 2017 - nature.com
Genome-wide association studies (GWAS) provide an agnostic approach for investigating
the genetic basis of complex diseases. In oncology, GWAS of nearly all common …

Ovarian cancer: etiology, risk factors, and epidemiology

J Hunn, GC Rodriguez - Clinical obstetrics and gynecology, 2012 - journals.lww.com
Little is known regarding the early aspects of ovarian carcinogenesis. As a consequence,
the identification of women at risk for the disease is based primarily on clinical grounds, with …

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 …

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

CM Phelan, KB Kuchenbaecker, JP Tyrer, SP Kar… - Nature …, 2017 - nature.com
To identify common alleles associated with different histotypes of epithelial ovarian cancer
(EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC …

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 …

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

RL Milne, KB Kuchenbaecker, K Michailidou… - Nature …, 2017 - nature.com
Most common breast cancer susceptibility variants have been identified through genome-
wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease …

Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

N Mavaddat, S Peock, D Frost, S Ellis… - JNCI: Journal of the …, 2013 - academic.oup.com
Background Reliable estimates of cancer risk are critical for guiding management of BRCA1
and BRCA2 mutation carriers. The aims of this study were to derive penetrance estimates for …

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

K Michailidou, P Hall, A Gonzalez-Neira… - Nature …, 2013 - nature.com
Breast cancer is the most common cancer among women. Common variants at 27 loci have
been identified as associated with susceptibility to breast cancer, and these account for∼ …

Association of cell-free DNA tumor fraction and somatic copy number alterations with survival in metastatic triple-negative breast cancer

DG Stover, HA Parsons, G Ha, SS Freeman… - Journal of Clinical …, 2018 - ascopubs.org
Purpose Cell-free DNA (cfDNA) offers the potential for minimally invasive genome-wide
profiling of tumor alterations without tumor biopsy and may be associated with patient …

Comparison of breast cancer molecular features and survival by African and European ancestry in The Cancer Genome Atlas

D Huo, H Hu, SK Rhie, ER Gamazon… - JAMA …, 2017 - jamanetwork.com
Importance African Americans have the highest breast cancer mortality rate. Although racial
difference in the distribution of intrinsic subtypes of breast cancer is known, it is unclear if …