The future of early cancer detection

RC Fitzgerald, AC Antoniou, L Fruk, N Rosenfeld - Nature medicine, 2022 - nature.com
A proactive approach to detecting cancer at an early stage can make treatments more
effective, with fewer side effects and improved long-term survival. However, as detection …

The personal and clinical utility of polygenic risk scores

A Torkamani, NE Wineinger, EJ Topol - Nature Reviews Genetics, 2018 - nature.com
Initial expectations for genome-wide association studies were high, as such studies
promised to rapidly transform personalized medicine with individualized disease risk …

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 …

From genome-wide associations to candidate causal variants by statistical fine-mapping

DJ Schaid, W Chen, NB Larson - Nature Reviews Genetics, 2018 - nature.com
Advancing from statistical associations of complex traits with genetic markers to
understanding the functional genetic variants that influence traits is often a complex process …

Association analysis identifies 65 new breast cancer risk loci

K Michailidou, S Lindström, J Dennis, J Beesley, S Hui… - Nature, 2017 - nature.com
Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as
BRCA1, and many common, mostly non-coding variants. However, much of the genetic …

Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

FR Schumacher, AA Al Olama, SI Berndt, S Benlloch… - Nature …, 2018 - nature.com
Genome-wide association studies (GWAS) and fine-mapping efforts to date have identified
more than 100 prostate cancer (PrCa)-susceptibility loci. We meta-analyzed genotype data …

Discovery of common and rare genetic risk variants for colorectal cancer

JR Huyghe, SA Bien, TA Harrison, HM Kang, S Chen… - Nature …, 2019 - nature.com
To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-
genome sequencing of 1,439 cases and 720 controls, imputed discovered sequence …

Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer

J Byun, Y Han, Y Li, J Xia, E Long, J Choi, X Xiao… - Nature …, 2022 - nature.com
To identify new susceptibility loci to lung cancer among diverse populations, we performed
cross-ancestry genome-wide association studies in European, East Asian and African …

Opportunities and challenges in phenotypic drug discovery: an industry perspective

JG Moffat, F Vincent, JA Lee, J Eder… - Nature reviews Drug …, 2017 - nature.com
Phenotypic drug discovery (PDD) approaches do not rely on knowledge of the identity of a
specific drug target or a hypothesis about its role in disease, in contrast to the target-based …

[HTML][HTML] Biomarkers in lung cancer screening: achievements, promises, and challenges

LM Seijo, N Peled, D Ajona, M Boeri, JK Field… - Journal of Thoracic …, 2019 - Elsevier
The present review is an update of the research and development efforts regarding the use
of molecular biomarkers in the lung cancer screening setting. The two main unmet clinical …