Alisa Förster

Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors

Frank A. Brand, Lily S. Rose, Amir Hossein Akbarzadeh, Christine A. M. Weber et autres

Familial occurrence of gliomas has been reported in around 5% of patients. Studies on the genetic landscape of glioma predisposition are scarce. Here, leukocyte DNA of 213 adult glioma patients with a familial and/or personal tumor history from 206 families was subjected …

de (code pays fourni par la source)

Genomic variant profiling in blast‐phase paediatric chronic myeloid leukaemia: Predisposing and driving alterations

Yvonne Lisa Behrens, Thea Reinkens, Winfried A. Hofmann, Amelie Gumann et autres

Paediatric blast-phase chronic myeloid leukaemia (CML-BP) is a rare and serious condition. Of 231 paediatric patients enrolled in the German CML-PAED-II registry between January 2007 and September 2023, 25 individuals (11%) were diagnosed with CML-BP. To identify genetic variants associated with early …

de (code pays fourni par la source)

Germline variants in patients developing second malignant neoplasms after therapy for pediatric acute lymphoblastic leukemia—a case-control study

Stefanie V. Junk, Alisa Förster, Gunnar Schmidt, Martin A. Zimmermann et autres

Today, most children treated for acute lymphoblastic leukemia (ALL) can be cured by the application of intensive combination chemotherapy regimens [ 1 , 2 ]. However, within 20 years, up to 10% develop a second malignant neoplasm (SMN) with cure rates often …

de (code pays fourni par la source)

SPECTRUM OF CLINICAL PHENOTYPES AND SOMATIC VARIANTS IN RUNX1-ASSOCIATED FAMILIAL PLATELET DISORDER WITH PREDISPOSITION TO HEMATOLOGIC MALIGNANCIES

Alisa Förster, Melanie Decker, Yvonne Lisa Behrens, Gudrun Göhring et autres

Background and aims: Pathogenic germline variants in RUNX1 cause familial platelet disorder with predisposition to hematologic malignancies (RUNX1- FPD), characterized by incomplete penetrance and a broad phenotypic spectrum even among affected family members. Causal germline variants are presumed to promote an inflammatory …

de (code pays fourni par la source)

Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families

Christine A. M. Weber, Nicole Krönke, Valery Volk, Bernd Auber et autres

Pathogenic germline variants in the DNA polymerase genes POLE and POLD1 cause polymerase proofreading-associated polyposis, a dominantly inherited disorder with increased risk of colorectal carcinomas and other tumors. POLE/POLD1 variants may result in high somatic mutation and neoantigen loads that confer susceptibility …

de, fr (code pays fourni par la source)

European standard clinical practice – Key issues for the medical care of individuals with familial leukemia

Alisa Förster, Claudia Davenport, Nicolas Duployez, Miriam Erlacher et autres

de, fr, be, gb, dk, nl, sk, it, pl, es, us (code pays fourni par la source)

Beyond Pathogenic RUNX1 Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies

Alisa Förster, Melanie Decker, Brigitte Schlegelberger, Tim Ripperger

Pathogenic loss-of-function RUNX1 germline variants cause autosomal dominantly-inherited familial platelet disorder with predisposition to hematologic malignancies (RUNX1-FPD). RUNX1-FPD is characterized by incomplete penetrance and a broad spectrum of clinical phenotypes, even within affected families. Heterozygous RUNX1 germline variants set the basis for …

de (code pays fourni par la source)

A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics

Alma Osmanovic, Alisa Förster, Maylin Widjaja, Bernd Auber et autres

BACKGROUND: Recent evidence points toward a role of the small ubiquitin-like modifier (SUMO) system, including SUMO4, in protecting from stress insults and neurodegeneration, such as the progressive motor neuron disease amyotrophic lateral sclerosis (ALS), e.g., by regulating stress granule (SG) dynamics. Here, …

de (code pays fourni par la source)

Validation and clinical application of transactivation assays forRUNX1variant classification

Melanie Decker, Anupriya Agarwal, Andreas Benneche, Jane E. Churpek et autres

Familial platelet disorder with associated myeloid malignancies (RUNX1-familial platelet disorder [RUNX1-FPD]) is caused by heterozygous pathogenic germline variants of RUNX1. In the present study, we evaluate the applicability of transactivation assays to investigate RUNX1 variants in different regions of the protein. We …

de, us, no, fr, nl (code pays fourni par la source)

Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin

Alisa Förster, Frank J Brand, Rouzbeh Banan, Robert Hüneburg et autres

The genetic basis of brain tumor development is poorly understood. Here, leukocyte DNA of 21 patients from 15 families with ≥ 2 glioma cases each was analyzed by whole-genome or targeted sequencing. As a result, we identified two families with rare germline …

de (code pays fourni par la source)

SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia

Alma Osmanovic, Maylin Widjaja, Alisa Förster, Julia Weder et autres

Amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia (HSP) are motor neuron diseases sharing clinical, pathological, and genetic similarities. While biallelic SPG7 mutations are known to cause recessively inherited HSP, heterozygous SPG7 mutations have repeatedly been identified in HSP and recently also …

de (code pays fourni par la source)

INNV-06. TREATMENT RESPONSE TO BEVACIZUMAB OVER TWO YEARS IN A PATIENT WITH GENETICALLY PROVEN SOMATIC NEUROFIBROMATOSIS TYPE 2 MOSAICISM

Elena Basenach, Alisa Förster, Peter Raab, Samer Alzein et autres

Abstract Neurofibromatosis type 2 (NF2) is a tumor predisposition syndrome characterized by the development of schwannomas, especially bilateral vestibular schwannomas (VS), and meningiomas. Heterozygous pathogenic variants in the NF2 gene are known to cause NF2, whereby somatic mosaicism is present in ~25% …

de (code pays fourni par la source)