Rósa B. Barkardóttir
- BRCA gene mutations in cancer
- Ovarian cancer diagnosis and treatment
- Genetic Associations and Epidemiology
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Genomics and Chromatin Dynamics
- DNA Repair Mechanisms
- Cancer-related Molecular Pathways
- Genetic factors in colorectal cancer
- Nutrition, Genetics, and Disease
- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Prostate Cancer Treatment and Research
- Gene expression and cancer classification
- RNA Research and Splicing
- CRISPR and Genetic Engineering
- Cancer-related molecular mechanisms research
- Breast Cancer Treatment Studies
- Molecular Biology Techniques and Applications
- Prostate Cancer Diagnosis and Treatment
- Genetics, Bioinformatics, and Biomedical Research
- PARP inhibition in cancer therapy
- Male Breast Health Studies
- Ocular Oncology and Treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
University of Iceland
2015-2024
National University Hospital of Iceland
2015-2024
Reykjavík University
2010-2022
Wellcome Sanger Institute
2017
Faculty (United Kingdom)
2016
Cancer Genetics (United States)
2000-2012
Lund University
2010-2012
Mount Sinai Hospital
2012
Mount Sinai Hospital
2012
Memorial Sloan Kettering Cancer Center
2012
SummaryThe contribution of BRCA1 and BRCA2 to inherited breast cancer was assessed by linkage mutation analysis in 237 families, each with at least four cases cancer, collected the Breast Cancer Linkage Consortium. Families were included without regard occurrence ovarian or other cancers. Overall, disease linked an estimated 52% 32% neither gene 16% (95% confidence interval [CI] 6%–28%), suggesting predisposition genes. The majority (81%) breast-ovarian families due BRCA1, most others (14%)...
Background : We have previously demonstrated that breast cancers associated with inherited BRCA1 and BRCA2 gene mutations differ from each other in their histopathologic appearances of these types differs patients unselected for family history (i.e., sporadic cancers). now conducted a more detailed examination cytologic architectural features tumors. Methods Specimens tumor tissue (5-µm-thick sections) were examined independently by two pathologists, who unaware the case or control subject...
Abstract Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets mutation carriers should allow further tumor characterization. Methods: We used data from 4,325 2,568 to analyze the pathology invasive breast, ovarian, contralateral cancers. Results: There was strong evidence proportion estrogen receptor (ER)-negative decreased with age at diagnosis among (P-trend = 1.2 × 10−5), but increased BRCA2, 6.8 10−6)....
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with 1,839 cancer), replication in an additional sample 2,646 carriers. We identified novel risk modifier locus at 1q32 for (rs2290854, P = 2.7×10−8, HR 1.14, 95% CI: 1.09–1.20). In addition, two loci: 17q21.31 (rs17631303, 1.4×10−8, 1.27, 1.17–1.38) 4q32.3 (rs4691139,...
The prevalence and spectrum of germline mutations in BRCA1 BRCA2 have been reported single populations, with the majority reports focused on White Europe North America. Consortium Investigators Modifiers BRCA1/2 (CIMBA) has assembled data 18,435 families 11,351 ascertained from 69 centers 49 countries six continents. This study comprehensively describes characteristics 1,650 unique 1,731 deleterious (disease-associated) identified CIMBA database. We observed substantial variation mutation...
Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark breast carcinogenesis. In BRCA1 mutation carriers, accumulation stem progenitor cells in normal increased risk developing tumors basal-like type suggest that regulates stem/progenitor cell proliferation differentiation. However, the function this process its link to carcinogenesis remain unknown. Here we depict a molecular mechanism involving RHAMM polarity and, when perturbed,...
Breast cancer is a profoundly heterogeneous disease with respect to biologic and clinical behavior. Gene-expression profiling has been used dissect this complexity stratify tumors into intrinsic gene-expression subtypes, associated distinct biology, patient outcome, genomic alterations. Additionally, breast occurring in individuals germline BRCA1 or BRCA2 mutations typically fall subtypes. We applied global DNA copy number 359 tumors. All were classified according subtypes included cases...
Significance The major portion of hereditary breast cancer still remains unexplained, and many susceptibility loci are yet to be found. Exome sequencing 24 high-risk familial BRCA1/2 -negative patients further genotyping a large sample set breast/ovarian cases controls was used discover previously unidentified alleles genes. A significant association FANCM nonsense mutation with cancer, especially triple-negative identifies as gene. Identification such risk is expected improve assessment for...
Sequence variants in the human genome are associated with serum levels of prostate-specific antigen.