A5056199856- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- DNA Repair Mechanisms
- Acute Ischemic Stroke Management
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Stroke Rehabilitation and Recovery
- RNA Research and Splicing
- CRISPR and Genetic Engineering
- RNA modifications and cancer
- Congenital heart defects research
- RNA and protein synthesis mechanisms
- Genetic Associations and Epidemiology
- Healthcare Systems and Practices
- Nutrition, Genetics, and Disease
- Cellular transport and secretion
- Genetic factors in colorectal cancer
- Genomics and Chromatin Dynamics
- PI3K/AKT/mTOR signaling in cancer
- Neurogenetic and Muscular Disorders Research
- Systemic Lupus Erythematosus Research
- Genetics and Neurodevelopmental Disorders
- Multiple Sclerosis Research Studies
- interferon and immune responses
- Genetic and rare skin diseases.
Aarhus University
2013-2025
Aarhus University Hospital
2015-2024
Odense University Hospital
2021
Mono-allelic germline pathogenic variants in the Partner And Localizer of BRCA2 (PALB2) gene predispose to a high-risk breast cancer development, consistent with role PALB2 homologous recombination (HR) DNA repair. Here, we sought define repertoire somatic genetic alterations PALB2-associated cancers (BCs), and whether BCs display bi-allelic inactivation and/or genomic features HR-deficiency (HRD). Twenty-four patients mutations were analyzed by whole-exome sequencing (WES, n = 16) or...
Structural variations (SVs) play important roles in genetic diversity, evolution, and carcinogenesis are, as such, for human health. However, it remains unclear how spatial proximity of double-strand breaks (DSBs) affects the formation SVs. To investigate if between two DSBs DNA repair, we used data from 3C experiments (Hi-C, ChIA-PET, ChIP-seq) to identify highly interacting loci on six different chromosomes. The target regions correlate with borders mega-base sized Topologically Associated...
We recently described that the autoimmune, central nervous system disease, multiple sclerosis (MS), is genetically associated with human endogenous retroviral locus, HERV-Fc1, in Scandinavians. A number of dominant genes encoding factors restrict retrovirus replication have been known for a long time. Today restriction retroviruses include amongst others TRIMs, APOBEC3s, BST2 and TREXs. therefore looked role these MS using genetic epidemiology. here report markers two TRIM5 TRIM22 marker...
To investigate the effects of centralizing acute stroke services in Central Denmark Region (CDR).The CDR (1.3 million inhabitants) centralized care from 6 to 2 designated units with 7-day outpatient clinics. We performed a prospective "before-and-after" cohort study comparing all strokes rest discover underlying general trends, adopting difference-in-differences approach. The population comprised 22,141 cases hospitalized May 2011 April 2012 and 2013 2014.Centralization was associated...
Background: Preoperative genetic testing affects the surgical decision-making among women with breast cancer. To avoid breast-conserving surgery and to offer possibility of mastectomy immediate reconstruction in high-risk patients, for pathogenic variants BRCA1 or BRCA2 a pedigree-based familial cancer risk assessment was offered younger Denmark. We evaluated impact stratification through counseling on uptake contralateral prophylactic (CPM).Material methods: The prospective cohort study...
KPTN-related disorder is an autosomal recessive associated with germline variants in KPTN (previously known as kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into pathogenesis disorder, we analysed mouse knockout and human stem cell loss-of-function models. Kptn -/- mice display many key phenotypes, including brain overgrowth, behavioural abnormalities, cognitive deficits. By assessment affected individuals, have identified widespread deficits (n = 6)...
Background Thrombolysis with intravenous recombinant tissue-type plasminogen activator improves functional outcome in acute ischemic stroke. Few studies have investigated the effects of thrombolysis a real-world setting. We evaluated impact on long-term hospital bed day use and risk readmission due to stroke-related complications. Methods conducted register-based nationwide propensity score-matched follow-up study among stroke patients Denmark (2004–2011). Thrombolysed were propensity-score...
BOADICEA is a comprehensive risk prediction model for breast and/or ovarian cancer (BC/OC) and carrying pathogenic variants (PVs) in susceptibility genes. In addition to BRCA1 BRCA2, version 6 includes PALB2, CHEK2, ATM, BARD1, RAD51C RAD51D. To validate its predictions these genes, we conducted retrospective study including 2033 individuals counselled at clinical genetics departments Denmark. All counselees underwent genetic testing by next generation sequencing on suspicion of hereditary...
Abstract The growth and development of the skeleton is regulated by bone morphogenetic proteins which several are linked to genetic skeletal disorders. So far, no human malformations have been associated with variants in BMP5 . Here, we report a patient biallelic loss function syndromic phenotype including dysostosis, dysmorphic features, hypermobility, laryngo‐tracheo‐bronchomalacia atrioventricular septal defect. We discuss relation known tissue‐specific expression Bmp5 similar...
Hailey-Hailey disease (OMIM#169600) is an autosomal dominantly inherited genodermatosis characterized by erosions in the flexural areas of body. caused variants ATP2C1, but for ~10% patients, no causative variant found coding region ATP2C1. We aimed to determine genetic cause a family without By genome sequencing and analysis all exon intron sequences we identified c.532-560 T>G (NM_014382.5) 7 The predicted silico tools create new deep intronic donor splice site. Segregation detected three...
Abstract Background Pathogenic variants in STK11 , also designated as LKB1 cause Peutz–Jeghers syndrome, which is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation changes, polyposis, and high risk of cancer. Methods A male meeting the clinical diagnostic criteria for syndrome underwent next‐generation sequencing. To validate predicted splicing impact detected variant, we performed RNA‐Seq on mRNA extracted from patient‐derived Epstein‐Barr virus‐transformed...
We recently described that the autoimmune, central nervous system disease, multiple sclerosis (MS), is genetically associated with human endogenous retroviral locus, HERV-Fc1, in Scandinavians.A number of dominant genes encoding factors restrict retrovirus replication have been known for a long time.Today restriction retroviruses include amongst others TRIMs, APOBEC3s, BST2 and TREXs.We therefore looked role these MS using genetic epidemiology.We here report markers two TRIM5 TRIM22 marker...
The YTH domain family member 3 gene (YTHDF3) encodes a reader of the abundant N6-methyladenosine (m6 A) modification eukaryotic mRNA, which plays an essential role in regulating mRNA stability and is necessary to achieve normal development central nervous system animal models. YTHDF3 has not previously been implicated Mendelian disease despite high probability loss function intolerance statistical evidence enrichment for gene-disruptive de novo variants large-scale studies individuals with...
Abstract KPTN -related disorder (KRD) is an autosomal recessive associated with germline variants in ( kaptin ), a component of the mTOR regulatory complex KICSTOR. To gain further insights into pathogenesis KRD, we analysed mouse knockout and human stem cell loss-of-function models. Kptn −/− mice display many key KRD phenotypes, including brain overgrowth, behavioural abnormalities, cognitive deficits. Assessment affected individuals has identified concordant selectivity deficits, postnatal...
Introduction: Several studies have demonstrated the beneficial effects of intravenous tissue-type plasminogen activator (IV-tPA) on neurological outcome in acute ischemic stroke. It is uncertain whether improved also translates into less morbidity and lower need for hospital admissions during follow-up. Methods: We conducted a register-based nationwide propensity score-matched follow-up study among stroke patients Denmark (2004-2011). IV-tPA-treated were propensity-score matched with IV-tPA...
Abstract BOADICEA is a comprehensive risk prediction model for breast and/or ovarian cancer (BC/OC) and carrying pathogenic variants (PVs) in susceptibility genes. In addition to BRCA1 BRCA2 , version 6 includes PALB2 CHEK2 ATM BARD1 RAD51C RAD51D . To validate its predictions these genes, we conducted retrospective study including 2,033 individuals counselled at clinical genetics departments Denmark. All counselees underwent genetic testing by next generation sequencing on suspicion of...
Abstract Background: The Breast and Ovarian Analysis of Disease Incidence Carrier Estimation Algorithm (BOADICEA), now a part CanRisk, is comprehensive risk prediction tool for breast and/or ovarian cancer (BOC) with high accuracy to predict the likelihood carrying pathogenic variants (PVs) in BRCA1 BRCA2 . BOADICEA version 6 also includes PVs PALB2 , CHEK2 ATM BARD1 RAD51C RAD51D but its predictions remains be investigated. Methods: study included 2,033 individuals counselled at clinical...