Alternative cleavage and polyadenylation in health and disease

AJ Gruber, M Zavolan - Nature Reviews Genetics, 2019 - nature.com
Most human genes have multiple sites at which RNA 3ʹ end cleavage and polyadenylation
can occur, enabling the expression of distinct transcript isoforms under different conditions …

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 …

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 …

An atlas of alternative polyadenylation quantitative trait loci contributing to complex trait and disease heritability

L Li, KL Huang, Y Gao, Y Cui, G Wang, ND Elrod, Y Li… - Nature …, 2021 - nature.com
Genome-wide association studies have identified thousands of noncoding variants
associated with human traits and diseases. However, the functional interpretation of these …

Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors

JE Eckel-Passow, DH Lachance… - … England Journal of …, 2015 - Mass Medical Soc
Background The prediction of clinical behavior, response to therapy, and outcome of
infiltrative glioma is challenging. On the basis of previous studies of tumor biology, we …

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations

PR Loh, G Genovese, RE Handsaker, HK Finucane… - Nature, 2018 - nature.com
The selective pressures that shape clonal evolution in healthy individuals are largely
unknown. Here we investigate 8,342 mosaic chromosomal alterations, from 50 kb to 249 Mb …

The epidemiology of glioma in adults: a “state of the science” review

QT Ostrom, L Bauchet, FG Davis, I Deltour… - Neuro …, 2014 - academic.oup.com
Gliomas are the most common primary intracranial tumor, representing 81% of malignant
brain tumors. Although relatively rare, they cause significant mortality and morbidity …

Current and future strategies for treatment of glioma

NAO Bush, SM Chang, MS Berger - Neurosurgical review, 2017 - Springer
Gliomas are one of the most common types of primary brain tumors and have remained
particularly challenging to treat. This review illustrates a multidisciplinary approach to the …

Alex's Lemonade Stand Foundation infant and childhood primary brain and central nervous system tumors diagnosed in the United States in 2007–2011

QT Ostrom, PM De Blank, C Kruchko… - Neuro …, 2015 - academic.oup.com
Background CBTRUS is currently the only population-based site-specific registry in the US
that works in partnership with a public cancer surveillance organization, the CDC's NPCR …

Large-scale whole-genome sequencing of the Icelandic population

DF Gudbjartsson, H Helgason, SA Gudjonsson, F Zink… - Nature …, 2015 - nature.com
Here we describe the insights gained from sequencing the whole genomes of 2,636
Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions …