A5010290322- BRCA gene mutations in cancer
- Nutrition, Genetics, and Disease
- Genetics, Bioinformatics, and Biomedical Research
- CRISPR and Genetic Engineering
- Ovarian cancer diagnosis and treatment
- Genetic Associations and Epidemiology
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Gene expression and cancer classification
- DNA Repair Mechanisms
- Genetic factors in colorectal cancer
- Male Breast Health Studies
- Genomics and Chromatin Dynamics
- PARP inhibition in cancer therapy
- Cancer Risks and Factors
- Advanced Biosensing Techniques and Applications
- Epigenetics and DNA Methylation
- Ovarian function and disorders
- Cancer Diagnosis and Treatment
- Bioinformatics and Genomic Networks
- Molecular Biology Techniques and Applications
- Reproductive Biology and Fertility
- Clinical Laboratory Practices and Quality Control
- RNA Research and Splicing
- Health, Environment, Cognitive Aging
Medical University of Vienna
2005-2019
Comprehensive Cancer Center Vienna
2013-2019
Music and Arts University of the City of Vienna
2014
American Cancer Society
2012
Mayo Clinic in Florida
2012
University of Southern California
2012
Cancer Genetics (United States)
2012
Mount Sinai Hospital
2012
Mount Sinai Hospital
2012
Memorial Sloan Kettering Cancer Center
2012
BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity data exists on the pathology cancers (BCs) in men BRCA1/2 mutations. Using largest available dataset, we determined whether MBCs arising mutation carriers display specific pathologic features and these differ from those female BCs (FBCs). We characterised 419 using logistic regression analysis, contrasted 9675 FBCs population-based 6351 Surveillance, Epidemiology,...
Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who deleterious mutations in both and are rare, the consequences of transheterozygosity poorly understood. From 32,295 female BRCA1/2 carriers, we identified 93 TH (0.3 %). "Cases" were defined as TH, "controls" at (SH1) (SH2). Matched SH1 carried found "case". SH2 After matching with SH2, 91 matched to 9316 SH1, 89 3370 SH2. The majority (45.2 %) involved three common Jewish...
Change of DNA cytosine methylation (5mC) is an early event in the development cancer, and recent discovery a 5-hydroxymethylated form (5hmC) suggests regulatory epigenetic role that might be different from 5-methylcytosine. Here, we aimed at elucidating 5hmC breast cancer. To interrogate levels leucine zipper, putative tumor suppressor 1 (LZTS1) gene detail, analyzed 75 primary cancer tissue samples initial diagnosis 12 normal derived healthy persons. Samples were subjected to...
Abstract Background The birth year‐dependent onset of breast cancer ( BC ) in BRCA 1/2 mutation carriers suggests a risk‐modifying role for reproductive and life style factors. We therefore examined possible associations between these factors age at diagnosis. Methods Cox regression analysis log‐Rank testing were used to estimate the effect potential on 197 carriers. Results Nulliparous developed earlier than those who had delivered (36.4 vs. 40.9; P = 0.001). Similarly, smokers women oral...
Abstract We investigated the prevalence of germline BRCA mutations in a population‐based cohort Austrian women diagnosed with ovarian cancer and its association family history cancer. prospectively collected pedigrees 443 patients who had been tested for presence or 2 correlated familial breast burden disease onset. The probability carrying g mutation without is 14% (95% CI 9%‐22%), as opposed to 45% 31%‐59%) at least one member cancer, 47% 40%‐54%) if other relatives have developed If both...
Mutations in the BRCA1 gene result an elevated risk of breast cancer (BC) and ovarian (OC). However, estimates vary depending on study population statistical methodology used, there are indications that birth cohort location mutation influence risk. We investigated risks for BC OC associated with mutations a young female carriers who were identified by molecular genetic testing belonged to genetically heterogeneous Central European population. The included 106 healthy 158 affected at...
BRCA mutation carriers are at high risk of developing ovarian cancer. Ovarian malignancies usually identified an advanced stage with poor prognosis, attributed to inadequate options early detection. Because its risk-reducing effect nearly 96%, prophylactic salpingo-oophorectomy is still the leading option for risk-reduction in women a positive status. The presence cancer precursor lesions, such as epithelial inclusion cysts (EICs) or cortical invaginations (CIs), has previously been...
The objective of this study was to describe the experience genetic testing in Austrian women with a BRCA1 or BRCA2 mutation terms preventive measures taken and incident cancers diagnosed. We collected clinical information on 246 tested between 1995 2012 followed 182 them for an average 6.5 years. Of 90 who were cancer-free at baseline, 21.4% underwent bilateral mastectomy, 46.1% had salpingo-oophorectomy, 1 took tamoxifen; 58.8% at-risk least one screening breast magnetic resonance imaging...
Circulating cell free DNA in serum as well serum-autoantibodies and the proteome have great potential to contribute early cancer diagnostics via non invasive blood tests. However, most preparation protocols destroy protein fraction therefore do not allow subsequent analyses. In this study a novel approach based on methyl binding domain (MBD) is described overcome technical difficulties of combining analysis out one single sample.Serum or plasma samples from 98 control individuals 54 breast...
Background: BRCA-1/2 germline mutations are responsible for early onset breast cancer and familial association. The underlying causes of the characteristic phenotypic behavior not completely understood, but mammary stem cells appear to have a key role in this process. Materials Methods: We investigated presence / progenitor normal tissues tumor obtained from women with without BRCA1/2 by utilizing ALDH-1 immunohistochemistry. Results: Isolated positive were found 15/28 (54%) samples BRCA 1...
Men with a BRCA2 mutation face substantial lifetime risks for the development of both breast and prostate cancer. A male who was initially diagnosed cancer at age 32 subsequently 77 contralateral He found to be carrier. The patient treated mastectomy, irradiation, irradiation adjuvant endocrine therapy. At 83 he died metastatic Our case underscores observation that carriers are risk multiple cancers, including cancer, illustrates need current practice recommendations early detection in men mutations.
1545 Background: We have recently demonstrated that the onset of breast cancer (BC) in BRCA 1 and 2 mutation carriers is influenced by their birth year, thus indicating a risk-modifying role for reproductive life style factors. now examined possible associations between potential risk factors, cohorts, BC BRCA1 carriers. Methods: 130 female 67 BRCA2 who had been identified at Vienna University Hospital 1995 2013, developed were included analysis. Individual factors questionnaires. Cox...
1537 Background: Mutations in the Breast Cancer Gene 1 (BRCA1) and 2 (BRCA2) lead to an elevated risk of developing breast (BC) ovarian cancer (OC). However, estimates vary, depending on study population. Furthermore, there are indications that birth cohort can influence risk. We investigated risks for BC OC associated with BRCA2 mutations a female mutation carriers genetically heterogeneous central European population who were identified by molecular genetic testing our institute. Methods:...
e12588 Background: We assessed the prevalence of family history and its association with germline BRCA1/2mutation status/location age at onset in triple-negative breast cancer (TNBC) patients. Methods: 266 patients TNBC < 60 years unselected for were enrolled DNA was sequenced to identify mutations. Family pedigrees prospectively collected from these Logistic regression used investigate mutation type/location onset. ROC curves constructed determine good predictors BRCAmutations. Results:...