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Article

Frequency and clinical features of germline pathogenic variants in sarcoma: a case-control study.

Journal of the National Cancer Institute - 1 Jan 2026

Rodriguez-Hernandez Adela, Horiguchi Miki, Horton Carolyn, Polfus Linda M, Bychkovsky Brittany L, Buehler Ryan M, George Suzanne, Merriam Priscilla, Garber Judy E, Rana Huma Q

Abstract excerpt

BACKGROUND: Germline multigene panel testing is not yet integrated into standard care for patients with sarcoma. This study aimed to assess the frequency and distribution of germline pathogenic variants in patients with sarcoma compared with cancer-free controls and identify differences between patients with and without germline pathogenic variants. METHODS: This retrospective cohort included 488 sarcoma patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41092038
DOI: 10.1093/jnci/djaf294
PMCID: PMC12794227

Genes

BRCA2
BRIP1
CDH1
CHEK2
NF1
POT1
RB1
SDHA
TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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