A5016440155- BRCA gene mutations in cancer
- Obsessive-Compulsive Spectrum Disorders
- Genetic factors in colorectal cancer
- Autism Spectrum Disorder Research
- DNA Repair Mechanisms
- Nutrition, Genetics, and Disease
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Chromosomal and Genetic Variations
- Biochemical and Molecular Research
- Diet and metabolism studies
- Metabolism, Diabetes, and Cancer
- Occupational and environmental lung diseases
- Trypanosoma species research and implications
- Genetics and Neurodevelopmental Disorders
- Genetic Associations and Epidemiology
- Vascular Malformations and Hemangiomas
- CRISPR and Genetic Engineering
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Hematopoietic Stem Cell Transplantation
- Hereditary Neurological Disorders
- Cardiac Health and Mental Health
- Nicotinic Acetylcholine Receptors Study
- PARP inhibition in cancer therapy
University of Copenhagen
2024
Rigshospitalet
2014-2024
Sygehus Sønderjylland
2024
Region of Southern Denmark
2024
Copenhagen University Hospital
2013-2023
Center for Genomic Science
2023
Hospital South West Jutland
2018-2019
Danish Diabetes Association
2018
Kennedy Center
2011-2016
Capital Region of Denmark
2015
Abstract Genomic screening of cancer patients for predisposing variants is traditionally based on age at onset, family history and type cancer. Whereas the clinical guidelines have proven efficient in identifying families exhibiting classical attributes hereditary cancer, frequency with alternative presentations unclear. We identified characterized germline 636 advanced solid using whole exome sequencing. Pathogenic likely pathogenic among 168 genes associated were considered. These 17.8%...
Chromothripsis (CTH) is a phenomenon where multiple localized double-stranded DNA breaks result in complex genomic rearrangements. Although the DNA-repair mechanisms involved CTH have been described, driving "shattering" process remain unclear. High-throughput sequence analysis of familial germline revealed an inserted SVAE retrotransposon associated with 110-kb deletion displaying hallmarks L1-mediated retrotransposition. Our suggests that insertion did not occur prior to or after, but...
Abstract Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs BRCA1/2 were overall cancer high grade (Gleason 8+) using an international sample 65 171 male PSV carriers cancer, 3,388 2,880 without the 3′ region (c.7914+) significantly elevated compared reference bin c.1001-c.7913 [HR = 1.78; 95% confidence interval (CI), 1.25–2.52; P 0.001], as well Gleason 8+ (HR 3.11; CI, 1.63–5.95;...
Haploinsufficiency of factors governing genome stability underlies hereditary breast and ovarian cancer. One significant pathway that is disabled as a result homologous recombination repair (HRR). With the aim identifying new candidate genes, we examined early-onset cancer patients negative for BRCA1 BRCA2 pathogenic variants. Here, focused on CtIP (RBBP8 gene), which mediates HRR through end resection DNA double-strand breaks (DSBs). Notably, these exhibited number rare germline RBBP8...
Abstract Peutz–Jeghers syndrome (PJS) is an autosomal dominant hereditary polyposis causing increased morbidity and mortality due to complications of the development cancer. STK11 only gene known be associated with PJS, although in 10%–15% patients fulfilling diagnostic criteria no pathogenic variant (PV) identified. The primary aim this study was identify genetic etiology all PJS Denmark estimate risk cancer, effect surveillance overall survival. We identified 56 (2–83 years old) PJS....
ABSTRACT Tourette syndrome (TS) is a childhood onset neurodevelopmental disorder. Although it widely accepted that genetic factors play significant role in TS pathogenesis the etiology of this disorder largely unknown. Identification rare copy number variations (CNVs) as susceptibility several neuropsychiatric disorders such attention deficit‐hyperactivity (ADHD), autism and schizophrenia, suggests involvement these structural changes also etiology. In male patient with TS, ADHD, OCD...
Juvenile polyposis syndrome (JPS) is a hereditary hamartomatous characterized by gastrointestinal juvenile polyps and increased risk of cancer. Germline pathogenic variants are detected in SMAD4 or BMPR1A, however significant number patients with JPS, the etiology unknown. From Danish registers, genetic department laboratories, we identified all Denmark clinical diagnosis JPS and/or variant BMPR1A SMAD4. In where no had been detected, performed analysis, including whole genome sequencing. We...
Heterozygous POLE or POLD1 germline pathogenic variants (PVs) cause polymerase proofreading associated polyposis (PPAP), a constitutional deficiency that typically presents with colorectal adenomas and carcinomas in adulthood. Constitutional mismatch-repair (CMMRD), caused by bi-allelic PVs affecting one of four MMR genes, results high propensity for the hematological, brain, intestinal tract, other malignancies childhood. Nonmalignant clinical features, such as skin pigmentation...
Germline protein truncating variants (PTVs) in the FANCM gene have been associated with a 2-4-fold increased breast cancer risk case-control studies conducted different European populations. However, distribution and frequency of PTVs Europe never investigated. In present study, we collected data 114 female cases ascertained 20 centers from 13 countries. We identified 27 PTVs. The p.Gln1701* PTV is most common Northern maximum Finland lower relative Southern Europe. On contrary, p.Arg1931*...
Cornea plana (CNA) is a hereditary congenital abnormality of the cornea characterized by reduced corneal curvature, extreme hypermetropia, clouding and hazy limbus. The recessive form, CNA2, associated with homozygous or compound heterozygous mutations keratocan gene (KERA) on chromosome 12q22. To date, only nine different disease-associated KERA mutations, including four missense have been described.In this report, we present clinical data from Turkish family autosomal plana. In some...
Gorlin syndrome is mainly caused by pathogenic germline variants in the tumour suppressor genes PTCH1 and SUFU, both regulatory hedgehog pathway. However, phenotypes of patients with SUFU seem to differ. We present a family frameshift variant gene c.954del, p.Asn319Thrfs∗42 leading meningiomas multiple basal cell-carcinomas.