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Sibling Osteosarcoma Without Retinoblastoma Associated With a Low Penetrance RB1 Variant: Whole Genome Findings From a Single Family
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DOI：10.1002/gcc.70124.png)
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Abstract
En 中文
Osteosarcoma is the most common primary malignant bone tumor in children and adolescents, yet its genetic etiology remains poorly understood. In this study, we described a family from the Shanghai General Hospital Osteosarcoma (SGH-OS) cohort in which two siblings developed osteosarcoma as their first primary malignancy, and we investigated the germline and somatic genetic basis underlying this familial presentation.
Keywords:
cancer predisposition
hereditary retinoblastoma
low penetrance
osteosarcoma
RB1 germline variant
whole-genome sequencing
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