Gunnar Schmidt

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 …

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Benchmarking whole exome sequencing in the German network for personalized medicine

Michael Menzel, Mihaela Martis-Thiele, Hannah Goldschmid, A. Ott et autres

INTRODUCTION: Whole Exome Sequencing (WES) has emerged as an efficient tool in clinical cancer diagnostics to broaden the scope from panel-based diagnostics to screening of all genes and enabling robust determination of complex biomarkers in a single analysis. METHODS: To assess concordance, …

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Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson, Emma Tudini et autres

The ENIGMA research consortium develops and applies methods to determine clinical significance of variants in hereditary breast and ovarian cancer genes. An ENIGMA BRCA1/2 classification sub-group, formed in 2015 as a ClinGen external expert panel, evolved into a ClinGen internal Variant Curation …

au, es, us, fr, nl, dk, it, de, gb, nz (code pays fourni par la source)

Novel hypermorphic variants in IRF2BP2 identified in patients with common variable immunodeficiency and autoimmunity

Manfred Anim, Georgios Sogkas, Nadezhda Camacho-Ordóñez, Gunnar Schmidt et autres

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Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci

Alexandra J. Baumann, Christian Rückert, Christoph Meier, Tim Hutschenreiter et autres

Considering polygenic risk scores (PRSs) in individual risk prediction is increasingly implemented in genetic testing for hereditary breast cancer (BC) based on next-generation sequencing (NGS). To calculate individual BC risks, the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm …

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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 …

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Ultraschnelle Trio-Genomsequenzierung: klinischer Nutzen am Beispiel von zwei Neugeborenen mit alveolärer kapillärer Dysplasie

Sandra v. Hardenberg, Nicolaus Schwerk, Sumesh Thomas, David Overberg et autres

Hintergrund Eine ultra-schnelle Genomsequenzierung (urWGS, Ergebnis vorliegend ≤ 3 Tagen) bei kritisch kranken Kindern, führt bei ca. 50% der untersuchten Kinder zur Diagnose einer genetisch bedingten Erkrankung (Baby Lion-Studie, DRKS00025163). Die Implementierung der urWGS in die Routine bleibt jedoch eine Herausforderung, unter …

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Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson, Emma Tudini et autres

Abstract The ENIGMA research consortium ( https://enigmaconsortium.org/ ) develops and applies methods to determine clinical significance of variants in Hereditary Breast and Ovarian Cancer genes. An ENIGMA BRCA1/2 classification sub-group, originally formed in 2016 as a ClinGen external expert panel, evolved into …

au, es, us, fr, nl, dk, it, de, gb, nz (code pays fourni par la source)

Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci

Alexandra J. Baumann, Christian Rückert, Christoph Meier, Tim Hutschenreiter et autres

Abstract Considering polygenic risk scores (PRSs) in individual risk prediction is increasingly becoming the standard in genetic testing for hereditary breast cancer (BC). To calculate individual BC risks, the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) with …

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Impact of primary kidney disease on the effects of empagliflozin in patients with chronic kidney disease: secondary analyses of the EMPA-KIDNEY trial

PK Judge, Natalie Staplin, KJ Mayne, Christoph Wanner et autres

BackgroundThe EMPA-KIDNEY trial showed that empagliflozin reduced the risk of the primary composite outcome of kidney disease progression or cardiovascular death in patients with chronic kidney disease mainly through slowing progression.We aimed to assess how effects of empagliflozin might differ by primary …

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Comparison of methylation estimates obtained via MinION nanopore sequencing and sanger bisulfite sequencing in the TRPA1 promoter region

Sara Gombert, Kirsten Jahn, Hansi Pathak, Alexandra Burkert et autres

BACKGROUND: Bisulfite sequencing has long been considered the gold standard for measuring DNA methylation at single CpG resolution. However, in recent years several new approaches like nanopore sequencing have been developed due to hints for a partial error-proneness of bisulfite sequencing. Since …

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Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children

Katharina Schütz, Axel Schmidt, Nicolaus Schwerk, Diane Miriam Renz et autres

INTRODUCTION: Fibroblast growth factor 10 (FGF10) is a signaling molecule with a well-established role for lung branching morphogenesis. Rare heterozygous, deleterious variants in the FGF10 gene are known causes of the lacrimo-auriculo-dento-digital (LADD) syndrome and aplasia of lacrimal and salivary glands. Previous …

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