Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma.

ABSTRACT:

Importance

Osteosarcoma, the most common malignant bone tumor in children and adolescents, occurs in a high number of cancer predisposition syndromes that are defined by highly penetrant germline mutations. The germline genetic susceptibility to osteosarcoma outside of familial cancer syndromes remains unclear.

Objective

To investigate the germline genetic architecture of 1244 patients with osteosarcoma.

Design, setting, and participants

Whole-exome sequencing (n = 1104) or targeted sequencing (n = 140) of the DNA of 1244 patients with osteosarcoma from 10 participating international centers or studies was conducted from April 21, 2014, to September 1, 2017. The results were compared with the DNA of 1062 individuals without cancer assembled internally from 4 participa

SUBMITTER: Mirabello L 

PROVIDER: S-EPMC7082769 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature