Jón Þór Bergþorsson
A5038435543- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Genetic Associations and Epidemiology
- Cancer-related molecular mechanisms research
- Nutrition, Genetics, and Disease
- Epigenetics and DNA Methylation
- Prostate Cancer Treatment and Research
- CAR-T cell therapy research
- DNA Repair Mechanisms
- Cancer Cells and Metastasis
- MicroRNA in disease regulation
- Testicular diseases and treatments
- Chronic Lymphocytic Leukemia Research
- Cancer-related gene regulation
- Genomics and Chromatin Dynamics
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Lymphoma Diagnosis and Treatment
- Immune Cell Function and Interaction
- Colorectal Cancer Screening and Detection
- Ovarian cancer diagnosis and treatment
- Sexual Differentiation and Disorders
- RNA modifications and cancer
- Ubiquitin and proteasome pathways
University of Iceland
2012-2024
National University Hospital of Iceland
2000-2023
Reykjavík University
2001-2023
deCODE Genetics (Iceland)
2005-2009
Icelandic Tourism Research Centre
2001
National Institutes of Health
2000
University Hospital Heidelberg
2000
Cancer Genetics (United States)
2000
National Human Genome Research Institute
2000
Heidelberg University
2000
A significant proportion of familial breast cancers cannot be explained by mutations in the BRCA1 or BRCA2 genes. We applied a strategy to identify predisposition loci for cancer using mathematical models early somatic genetic deletions tumor tissues followed targeted linkage analysis. Comparative genomic hybridization was used study 61 tumors from 37 families with no identified mutations. Branching and phylogenetic tree predicted that loss 13q one earliest events hereditary cancers. In...
The upper airways are lined with a pseudostratified bronchial epithelium that forms barrier against unwanted substances in breathing air. transcription factor p63, which is important for stratification of skin epithelium, has been shown to be expressed basal cells the lungs and its ΔN isoform recognized as key player squamous cell lung cancer. However, role p63 formation maintenance epithelia largely unknown. objective current study was determine expression pattern TA isoforms development...
Most, if not all, of the cellular functions BRCA1 protein are mediated through heterodimeric complexes composed and a related protein, BARD1. Some breast-cancer-associated missense mutations disrupt function BRCA1/BARD1 complex. It is therefore pertinent to determine whether variants BARD1 confer susceptibility breast cancer. Recently, variant, Cys557Ser, was reported be at increased frequencies in cancer families. We investigated role Cys557Ser variant population-based cohort 1,090...
Despite the numerous advantages of allogeneic hematopoietic stem cell transplants (allo-HSCT), there exists a notable association with risks, particularly during preconditioning period and predominantly post-intervention, exemplified by occurrence graft-versus-host disease (GVHD). Risk stratification prior to symptom manifestation, along precise diagnosis prognosis, relies heavily on clinical features. A critical imperative is development tools capable early identification effective...
Mutations in the CHK2 gene at chromosome 22q12.1 have been reported families with Li-Fraumeni syndrome. Chk2 is an effector kinase that activated response to DNA damage and involved cell-cycle pathways p53 pathways.We screened 139 breast tumors for loss of heterozygosity 22q, using seven microsatellite markers, 119 single-strand conformation polymorphism sequencing mutations gene.Seventy-four sporadic (53%) show least one marker. These samples 45 from individuals carrying BRCA2 999del5...
The majority of breast cancer in high risk families is believed to result from a mutation either two genes named BRCA1 and BRCA2. A germline defect gene usually followed by chromosomal deletion the normal allele tumour. In Iceland recurrent mutations have been identified, 999del5 BRCA2 G5193A BRCA1. this study, randomly selected pairs sisters diagnosed with at age 60 years or younger were analysed evaluate proportion resulting Genotypes loss tumour tissue 42 sister compared using markers...
INTRODUCTION A small fraction of breast cancer is the result germline mutations in BRCA1 and BRCA2 susceptibility genes. Mutation carriers frequently have a positive family history ovarian cancer, are often diagnosed at young age, may higher incidence double or multiple primary tumours than patients general. OBJECTIVES To estimate prevalence spectrum Danish affected with bilateral multifocal to determine relationship mutation status cancer. SUBJECTS From files Breast Cancer Cooperative Group...