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Individual assessment of genetic sarcoma susceptibility in children, adolescents, and young adults with sarcomas

Individual assessment of genetic sarcoma susceptibility in children, adolescents, and young adults with sarcomas - Genetic sarcoma susceptibility

Status
Recruiting
Phases
Unknown
Study type
Interventional
Source
DRKS
Registry ID
DRKS00031253
Enrollment
60
Registered
2025-03-25
Start date
2023-10-05
Completion date
Unknown
Last updated
2025-11-24

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

C40-C41 C45-C49

Interventions

Group 1: Peripheral blood and/ or buccal swabs will be taken from all study patients for DNA extraction and subsequent whole exome sequencing (WES).

Sponsors

Universitätsklinikum Freiburg, Kinder-und Jugendklinik
Lead Sponsor

Eligibility

Sex/Gender
All
Age
No minimum to 50 Years

Inclusion criteria

Inclusion criteria: Prior diagnosis of a bone or soft-tissue sarcoma, Written informed consent

Exclusion criteria

Exclusion criteria: No diagnosis of sarcoma, Lack of informed consent

Design outcomes

Primary

MeasureTime frame
To determine if prevalence of P/LP germline variants in 117 candidate sarcoma-relevant CPGs was higher in sarcoma patients meeting clinical risk criteria compared to those not meeting these criteria.—

Secondary

MeasureTime frame
To evaluate if prevalence of P/LP germline variants in 117 candidate sarcoma-relevant CPGs was higher in individuals diagnosed with sarcomas as children, adolescents and young adults (age 0-25 years) compared to those that were diagnosed with sarcomas as adults (age 25-50 years).—

Countries

Germany

Contacts

Public ContactSimone Hettmer

Universitätsklinikum Freiburg, KJK, Klinik für Pädiatrische Hämatologie und Onkologie

simone.hettmer@uniklinik-freiburg.de+49 761 270 43000

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026