Fanconi anemia Li-Fraumeni-Syndrome Ataxia Teleangiectasia Bloom Syndrome DNA Ligase IV Deficiency Constitutional Mismatch Repair Deficiency Nijmegen Breakage Syndrome Rothmund-Thomson Syndrome Werner Syndrome Xeroderma Pigmentosum Dyskeratosis congenita
Conditions
Interventions
Group 1: Over an initial period of three years, blood, bone marrow, DNA from buccal swabs, skin or fibroblasts and tumour material will be collected and made available to the various subprojects for t
Sponsors
Pädiatrische Hämatologie und OnkologieMedizinische Hochschule Hannover
Eligibility
Sex/Gender
All
Age
0 Years to 120 Years
Inclusion criteria
Inclusion criteria: - Diagnosis of a cancer predisposition syndrome with underlying DNA repair defect - or: Related person (relative, partner, close person of an LFS victim) - Existence of a written consent to participate in the study
Exclusion criteria
Exclusion criteria: Lack of consent, inability to consent
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Development of cancer, development of non-malignant complications, physical abnormalities, death | — |
Secondary
| Measure | Time frame |
|---|---|
| - Creation of an infrastructure that facilitates the exchange of information, coordination of consultation and input of medical patient data for patients and medical professionals. - Investigation of the molecular causes of diseases with DNA repair defects. - Promote psychosocial support in an evidence-based way. - Improve early cancer detection through MRI imaging. - Identification of genetic traits in patients with DNA repair defects. - Developing preclinical models to find new therapies for patients with DNA repair defect associated cancer that can be tested in early clinical trials. | — |
Countries
Germany
Contacts
Public ContactChristian Kratz
Medizinische Hochschule HannoverZentrum für Kinderheilkunde und JugendmedizinKlinik für Pädiatrische Hämatologie und Onkologie
Outcome results
None listed