A rare PALB2 germline variant causing G2/M cell cycle arrest is associated with isolated myelosarcoma in infancy

Autor: Angelina Beer, Ricardo Beck, Anne Schedel, Malte vonBonin, Jörn Meinel, Ulrike Anne Friedrich, Maria Menzel, Meinolf Suttorp, Sebastian Brenner, Guido Fitze, Björn Lange, Ralf Knöfler, Julia Hauer, Franziska Auer

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)

Abstract Background Isolated myelosarcoma of infancy is a rare presentation of acute myelogenous leukaemia (AML). Because of its rarity and early onset in infancy underlying genetic predisposition is potentially relevant in disease initiation. Method

Externí odkaz: https://doaj.org/article/fa12650b4cac4017b884900abbc6b7ef

Clinical criteria for genetic testing in pediatric oncology show a low specificity and miss every 4thchild carrying a cancer predisposition

Autor: Ulrike Anne Friedrich, Marc Bienias, Claudia Zinke, Maria Prazenicova, Judith Lohse, Arne Jahn, Maria Menzel, Jonas Langanke, Carolin Walter, Rabea Wagener, Triantafyllia Brozou, Julian Varghese, Martin Dugas, Evelin Schröck, Meinolf Suttorp, Arndt Borkhardt, Julia Hauer, Franziska Auer

Clinical checklists are the current gold standard to determine whether a child with cancer shows indications for genetic testing. Nevertheless, the efficacy of these tests to reliably detect genetic cancer predisposition in children with cancer is st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ce3188a203aaeb2594c8b67fc1314030
https://doi.org/10.1101/2022.10.22.22281392

Familial Predisposition to B-Cell Precursor Acute Lymphoblastic Leukemia Mediated By PAX5 Germline Variants

Autor: Franziska Auer, Adela Escuerdo, Ulrike Anne Friedrich, Polina Stepensky, Arndt Borkhardt, Sarah Elitzur, Masatoshi Takagi, Julia Hauer

Publikováno v: Blood. 140:8888-8889

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4197b23fdce57c6baa03937fb90d2e71
https://doi.org/10.1182/blood-2022-166646

Germline POT1 Deregulation Can Predispose to Myeloid Malignancies in Childhood

Autor: Franziska Auer, Dalileh Nabi, Glen Pearce, Friedrich Stölzel, Gudrun Göhring, Maria Menzel, Rabea Wagener, Julia Hauer, Triantafyllia Brozou, Carolin Walter, Arndt Borkhardt, Ulrike Anne Friedrich, Miriam Erlacher, Juha Mehtonen, Martha Witschas, Pia Michler, Anne Schedel, Merja Heinäniemi, Martin Dugas

Publikováno v: International Journal of Molecular Sciences
Volume 22
Issue 21
International Journal of Molecular Sciences, Vol 22, Iss 11572, p 11572 (2021)

While the shelterin complex guards and coordinates the mechanism of telomere regulation, deregulation of this process is tightly linked to malignant transformation and cancer. Here, we present the novel finding of a germline stop-gain variant (p.Q199

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33bd04f7d602f493299bf4b534c86036
https://pubmed.ncbi.nlm.nih.gov/34769003

Novel Germline POT1 Variant Predisposes to Childhood Acute Myeloid Leukemia

Autor: Rabea Wagener, Carolin Walter, Julia Hauer, Martin Dugas, Franziska Auer, Triantafyllia Brozou, Ulrike Anne Friedrich, Friedrich Stölzel, Pia Michler, Arndt Borkhardt

Publikováno v: Blood. 138:3449-3449

Introduction: Current studies indicate a contribution of germline predisposition in the development of approximately 8.5% of childhood cancers (Zhang J. et al., N Engl J Med, 2015), although their apparent rate is estimated to be much higher. Underst

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1b3504355bfc68eca2decc8484682a43
https://doi.org/10.1182/blood-2021-150456