Frequency of pathogenic germline variants in cancer-susceptibility genes in patients with osteosarcoma

L Mirabello, B Zhu, R Koster, E Karlins, M Dean… - JAMA …, 2020 - jamanetwork.com
Importance Osteosarcoma, the most common malignant bone tumor in children and
adolescents, occurs in a high number of cancer predisposition syndromes that are defined …

Molecular genetics of osteosarcoma

K Rickel, F Fang, J Tao - Bone, 2017 - Elsevier
Osteosarcoma is the predominant form of bone cancer, affecting mostly adolescents. Recent
progress made in molecular genetic studies of osteosarcoma has changed our view on the …

The genetics of osteosarcoma

JW Martin, JA Squire, M Zielenska - Sarcoma, 2012 - Wiley Online Library
Osteosarcoma is a primary bone malignancy with a particularly high incidence rate in
children and adolescents relative to other age groups. The etiology of this often aggressive …

A comprehensive candidate gene approach identifies genetic variation associated with osteosarcoma

L Mirabello, K Yu, SI Berndt, L Burdett, Z Wang… - BMC cancer, 2011 - Springer
Background Osteosarcoma (OS) is a bone malignancy which occurs primarily in
adolescents. Since it occurs during a period of rapid growth, genes important in bone …

Genome-wide association study identifies two susceptibility loci for osteosarcoma

SA Savage, L Mirabello, Z Wang, JM Gastier-Foster… - Nature …, 2013 - nature.com
Osteosarcoma is the most common primary bone malignancy of adolescents and young
adults. To better understand the genetic etiology of osteosarcoma, we performed a …

At‐risk populations for osteosarcoma: the syndromes and beyond

GT Calvert, RL Randall, KB Jones… - Sarcoma, 2012 - Wiley Online Library
Osteosarcoma is the most common primary malignancy of bone. Most cases are sporadic
without a known genetic or environmental cause. Heritable genetic predisposition …

Germline TP53 Variants and Susceptibility to Osteosarcoma

L Mirabello, M Yeager, PL Mai… - Journal of the …, 2015 - academic.oup.com
The etiologic contribution of germline genetic variation to sporadic osteosarcoma is not well
understood. Osteosarcoma is a sentinel cancer of Li-Fraumeni syndrome (LFS), in which …

Germline and somatic genetics of osteosarcoma—connecting aetiology, biology and therapy

DM Gianferante, L Mirabello, SA Savage - Nature Reviews …, 2017 - nature.com
Clinical outcomes and treatment modalities for osteosarcoma, the most common primary
cancer of bone, have changed very little over the past 30 years. The peak incidence of …

Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma

X Chen, A Bahrami, A Pappo, J Easton, J Dalton… - Cell reports, 2014 - cell.com
Pediatric osteosarcoma is characterized by multiple somatic chromosomal lesions, including
structural variations (SVs) and copy number alterations (CNAs). To define the landscape of …

Genetic predisposition to solid pediatric cancers

M Capasso, A Montella, M Tirelli, T Maiorino… - Frontiers in …, 2020 - frontiersin.org
Progresses over the past years have extensively improved our capacity to use genome-
scale analyses—including high-density genotyping and exome and genome sequencing …