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A heterozygous frameshift mutation in the Fanconi Anemia C gene in familiary T-ALL and secondary malignancy

J. R. Rischewski, H. Clausen, V. Leber, C. Niemeyer, J. Ritter, D. Schindler, R. Schneppenheim · Klinische Pädiatrie · 2000 · Heft 04 · S. 174-176

Dokument
959396
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Jahr
2000
Publikation
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Bibliografische Angaben

Zeitschrift
Klinische Pädiatrie
Autor:innen
J. R. Rischewski, H. Clausen, V. Leber, C. Niemeyer, J. Ritter, D. Schindler, R. Schneppenheim
Ausgabe
Heft 04 / 2000
Jahrgang 212
Seiten
174-176
Erschienen: 2000-01-01 00:00:00
ISSN
0300-8630

Zusammenfassung

Summary. BACKGROUND: Patients with Fanconi Anemia (FANC) have a well documented increased risk to develop malignancies, especially Acute Myeloid Leukemia (AML) and Myelodysplastic Syndrome (MDS). The risk for heterozygous individuals is not clear, epidemiological data are inconsistent. If the risk for heterozygous individuals to develop malignancies was increased, they should be found in groups of patients with AML or MDS at higher proportion than in the normal population. We are currently screening a pediatric population with hematologic malignancies for mutations in the FANCA, FANCC and FANCG gene, and report…

Schlagworte

Fanconi anemia heterozygosity malignancy risk factor Fanconi-Anämie Heterozygotie Malignome Risikofaktor Anemia Population Klinische Pädiatrie