We thank Dr. med. Ripperger, Professor Illig, and Professor Schlegelberger for additions and corrections to our review article from a human genetics perspective (1).
We did not intend to question in any way that the treating clinician can, is allowed to and should initiate cytogenetic and molecular genetic tests in hematological neoplasms, which are already an integral part of clinical routine diagnostics. However, for purposeful germline diagnostics we consider prior genetic counseling (for definition, see German Gene Diagnostics Act) to be necessary in the interest of the patient; for predictive or presymptomatic diagnostics, it is required by law.
DNA from fingernails is listed as possible germline material in the highly detailed expert recommendations from the University of Chicago, but we share the concerns of our Hanoverian colleagues.
We fully agree with the assessment that the sequencing of coding gene regions must be supplemented with additional analyses.
The range we gave for relative risk for breast cancer in female carriers of Fanconi anemia is based on the literature that we cited. However, we acknowledge that other publications have actually shown higher relative risks, such that the relative risk in our review should be revised upwards.
On behalf of the authors
PD Dr. med. Tilmann Bochtler
Medizinische Klinik V, Hämatologie, Onkologie und Rheumatologie,
Klinische Kooperationseinheit Molekulare Hämatologie/Onkologie,
Deutsches Krebsforschungszentrum (DKFZ)
Conflict of interest statement
The authors of each contribution declare that no conflict of interest exists.
|1.||Bochtler T, Haag GM, Schott S, Kloor M, Krämer A, Müller-Tidow C: Hematological malignancies in adults with a family predisposition. Dtsch Arztebl Int 2018; 115: 848–54 VOLLTEXT|