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 …

The PANoptosome: a deadly protein complex driving pyroptosis, apoptosis, and necroptosis (PANoptosis)

P Samir, RKS Malireddi, TD Kanneganti - Frontiers in cellular and …, 2020 - frontiersin.org
Programmed cell death is regulated by evolutionarily conserved pathways that play critical
roles in development and the immune response. A newly recognized pathway for …

The GTEx Consortium atlas of genetic regulatory effects across human tissues

GTEx Consortium - Science, 2020 - science.org
The Genotype-Tissue Expression (GTEx) project was established to characterize genetic
effects on the transcriptome across human tissues and to link these regulatory mechanisms …

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

AC Fahed, M Wang, JR Homburger, AP Patel… - Nature …, 2020 - nature.com
Genetic variation can predispose to disease both through (i) monogenic risk variants that
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …

Functional genomic landscape of cancer-intrinsic evasion of killing by T cells

KA Lawson, CM Sousa, X Zhang, E Kim, R Akthar… - Nature, 2020 - nature.com
The genetic circuits that allow cancer cells to evade destruction by the host immune system
remain poorly understood,–. Here, to identify a phenotypically robust core set of genes and …

LDpred2: better, faster, stronger

F Privé, J Arbel, BJ Vilhjálmsson - Bioinformatics, 2020 - academic.oup.com
Motivation Polygenic scores have become a central tool in human genetics research.
LDpred is a popular method for deriving polygenic scores based on summary statistics and …

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 …

Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts

SR Rashkin, RE Graff, L Kachuri, KK Thai… - Nature …, 2020 - nature.com
Deciphering the shared genetic basis of distinct cancers has the potential to elucidate
carcinogenic mechanisms and inform broadly applicable risk assessment efforts. Here, we …

Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers

N Mars, JT Koskela, P Ripatti, TTJ Kiiskinen… - Nature medicine, 2020 - nature.com
Polygenic risk scores (PRSs) have shown promise in predicting susceptibility to common
diseases,–. We estimated their added value in clinical risk prediction of five common …

Prostate cancer reactivates developmental epigenomic programs during metastatic progression

MM Pomerantz, X Qiu, Y Zhu, DY Takeda, W Pan… - Nature …, 2020 - nature.com
Epigenetic processes govern prostate cancer (PCa) biology, as evidenced by the
dependency of PCa cells on the androgen receptor (AR), a prostate master transcription …