A summary of the inaugural WHO classification of pediatric tumors: transitioning from the optical into the molecular era

SM Pfister, M Reyes-Múgica, JKC Chan, H Hasle… - Cancer discovery, 2022 - AACR
Pediatric tumors are uncommon, yet are the leading cause of cancer-related death in
childhood. Tumor types, molecular characteristics, and pathogenesis are unique, often …

Ewing sarcoma

TGP Grünewald, F Cidre-Aranaz, D Surdez… - Nature reviews Disease …, 2018 - nature.com
Ewing sarcoma is the second most frequent bone tumour of childhood and adolescence that
can also arise in soft tissue. Ewing sarcoma is a highly aggressive cancer, with a survival of …

Somatic genomic testing in patients with metastatic or advanced cancer: ASCO provisional clinical opinion

D Chakravarty, A Johnson, J Sklar… - Journal of Clinical …, 2022 - ascopubs.org
PURPOSE An ASCO provisional clinical opinion offers timely clinical direction to ASCO's
membership following publication or presentation of potentially practice-changing data from …

Bone sarcomas: ESMO–PaedCan–EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up

PG Casali, S Bielack, N Abecassis, HT Aro… - Annals of …, 2018 - annalsofoncology.org
Primary bone tumours are rare, accounting for< 0.2% of malignant neoplasms registered in
the EUROCARE (European Cancer Registry based study on survival and care of cancer …

Patterns of de novo tandem repeat mutations and their role in autism

I Mitra, B Huang, N Mousavi, N Ma, M Lamkin… - Nature, 2021 - nature.com
Autism spectrum disorder (ASD) is an early-onset developmental disorder characterized by
deficits in communication and social interaction and restrictive or repetitive behaviours …

Sequencing and characterizing short tandem repeats in the human genome

HA Tanudisastro, IW Deveson, H Dashnow… - Nature Reviews …, 2024 - nature.com
Short tandem repeats (STRs) are highly polymorphic sequences throughout the human
genome that are composed of repeated copies of a 1–6-bp motif. Over 1 million variable …

The impact of short tandem repeat variation on gene expression

SF Fotsing, J Margoliash, C Wang, S Saini, R Yanicky… - Nature …, 2019 - nature.com
Short tandem repeats (STRs) have been implicated in a variety of complex traits in humans.
However, genome-wide studies of the effects of STRs on gene expression thus far have had …

Abundant contribution of short tandem repeats to gene expression variation in humans

M Gymrek, T Willems, A Guilmatre, H Zeng, B Markus… - Nature …, 2016 - nature.com
The contribution of repetitive elements to quantitative human traits is largely unknown. Here
we report a genome-wide survey of the contribution of short tandem repeats (STRs), which …

Recurrent repeat expansions in human cancer genomes

GS Erwin, G Gürsoy, R Al-Abri, A Suriyaprakash… - Nature, 2023 - nature.com
Expansion of a single repetitive DNA sequence, termed a tandem repeat (TR), is known to
cause more than 50 diseases,. However, repeat expansions are often not explored beyond …

Loci-specific phase separation of FET fusion oncoproteins promotes gene transcription

L Zuo, G Zhang, M Massett, J Cheng, Z Guo… - Nature …, 2021 - nature.com
Abstract Abnormally formed FUS/EWS/TAF15 (FET) fusion oncoproteins are essential
oncogenic drivers in many human cancers. Interestingly, at the molecular level, they also …