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Open AccessDifferenzierte Herangehensweise und Testung seltener genetischer Erkrankungen im Kindes- und Jugendalter
Genetische Diagnostik hat mittlerweile praktisch alle Bereiche der Kinderheilkunde erreicht. Immer häufiger stellt die Humangenetik ein wichtiges Instrument ergänzend zur klinischen Diagnostik dar und nimmt zu...
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Open AccessGermline variants in patients develo** second malignant neoplasms after therapy for pediatric acute lymphoblastic leukemia—a case-control study
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Open AccessRare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families
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 t...
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Open AccessHigh prevalence of reduced fertility and use of assisted reproductive technology in a German cohort of patients with peripartum cardiomyopathy
Over the past decades the use of assisted reproduction technology (ART) increased worldwide. ARTs are associated with an elevated risk for cardiovascular complications. However, a potential relation between su...
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Open AccessA SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics
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 a...
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Erratum zu: Warnzeichen für und moderne Diagnostik von angeborenen Störungen des Immunsystems
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Open AccessBiomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies
DNA damage is a constant event in every cell caused by exogenous factors such as ultraviolet and ionizing radiation (UVR/IR) and intercalating drugs, or endogenous metabolic and replicative stress. Proteins of...
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Open AccessBi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
Dilated cardiomyopathy (DCM) belongs to the most frequent forms of cardiomyopathy mainly characterized by cardiac dilatation and reduced systolic function. Although most cases of DCM are classified as sporadic...
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Open AccessSPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia
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 re...
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Fine-map** of 150 breast cancer risk regions identifies 191 likely target genes
Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining asso...
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Open AccessThe FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, whic...
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Open AccessInvestigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women
Inherited pathogenic variants in BRCA1 and BRCA2 are the most common causes of hereditary breast and ovarian cancer (HBOC). The risk of develo** breast cancer by age 80 in women carrying a BRCA1 pathogenic vari...
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A tandem duplication of BRCA1 exons 1–19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome
The purpose of this study is to characterize a novel structural variant, a large duplication involving exons 1–19 of the BRCA1 gene in four independent families, and to provide diagnostically valuable information...
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Open AccessBreast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity
Breast cancer is the most prevalent tumor entity in Li-Fraumeni syndrome. Up to 80% of individuals with a Li-Fraumeni-like phenotype do not harbor detectable causative germline TP53 variants. Yet, no systematic p...
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Open AccessBRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer
Germline mutations in the BRIP1 gene have been described as conferring a moderate risk for ovarian cancer (OC), while the role of BRIP1 in breast cancer (BC) pathogenesis remains controversial.
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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Roger Milne and colleagues conduct a genome-wide association study for estrogen receptor (ER)-negative breast cancer combined with BRCA1 mutation carriers in a large cohort. They identify ten new risk variants an...
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Open AccessIdentification of subtelomeric genomic imbalances and breakpoint map** with quantitative PCR in 296 individuals with congenital defects and/or mental retardation
Submicroscopic imbalances in the subtelomeric regions of the chromosomes are considered to play an important role in the aetiology of mental retardation (MR). The aim of the study was to evaluate a quantitativ...
