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Article

Sibling Osteosarcoma Without Retinoblastoma Associated With a Low Penetrance RB1 Variant: Whole Genome Findings From a Single Family.

Genes, chromosomes & cancer - 1 Apr 2026

Zhao Weisong, Wang Zhuoying, Tian Kai, Yang Xiyu, Jiang Yafei, Cheng Zhiwei, Sun Wei, Wang Gangyang, Cai Zhengdong, Hua Yingqi

Abstract excerpt

PURPOSE: 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...

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Identifiers

PMID: 41949209
DOI: 10.1002/gcc.70124

Genes

RB1

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