1. High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing.

    European Journal of Human Genetics 24(2):258 (2016) PMID 26014432 PMCID PMC4717197

    Screening for founder mutations in BRCA1 and BRCA2 has been discussed as a cost-effective testing strategy in certain populations. In this study, comprehensive BRCA1 and BRCA2 testing was performed in a routine diagnostic setting. The prevalence of the BRCA1 stop mutation c.4183C>T, p.(Gln1395Te...
  2. Evaluation of folate receptor 1 (FOLR1) mRNA expression, its specific promoter methylation and global DNA hypomethylation in type I and type II ovarian cancers.

    BMC Cancer 16(1):589 (2016) PMID 27485273 PMCID PMC4971744

    In this retrospective study we evaluated the respective correlations and clinical relevance of FOLR1 mRNA expression, FOLR1 promoter specific methylation and global DNA hypomethylation in type I and type II ovarian cancer. Two hundred fifty four ovarian cancers, 13 borderline tumours and 60 samp...
  3. High prevalence of side population in human cancer cell lines.

    Oncoscience 3(3-4):85 (2016) PMID 27226981 PMCID PMC4872646

    Cancer cell lines are essential platforms for performing cancer research on human cells. We here demonstrate that, across tumor entities, human cancer cell lines harbor minority populations of putative stem-like cells, molecularly defined by dye extrusion resulting in the side population phenoty...
  4. Expression and promotor hypermethylation of miR-34a in the various histological subtypes of ovarian cancer.

    BMC Cancer 16(1):102 (2016) PMID 26879132 PMCID PMC4754861

    An increasing body of evidence shows that miR-34 family has tumor suppressive properties mediating apoptosis, cell cycle arrest and senescence. In ovarian cancer, miR34 family members were found to be under expressed. Particularly miR-34a has been revealed to be a direct transcriptional target o...
  5. Detection of soluble EpCAM (sEpCAM) in malignant ascites predicts poor overall survival in patients treated with catumaxomab.

    Oncotarget 6(28):25017 (2015) PMID 26296970 PMCID PMC4694811

    EpCAM is an attractive target for cancer therapy and the EpCAM-specific antibody catumaxomab has been used for intraperitoneal treatment of EpCAM-positive cancer patients with malignant ascites. New prognostic markers are necessary to select patients that mostly benefit from catumaxomab. Recent ...
  6. HOTAIR and its surrogate DNA methylation signature indicate carboplatin resistance in ovarian cancer.

    Genome Medicine 7(1):108 (2015) PMID 26497652 PMCID PMC4619324

    Understanding carboplatin resistance in ovarian cancer is critical for the improvement of patients' lives. Multipotent mesenchymal stem cells or an aggravated epithelial to mesenchymal transition phenotype of a cancer are integrally involved in pathways conferring chemo-resistance. Long non-codi...
  7. Serum HE4 detects recurrent endometrial cancer in patients undergoing routine clinical surveillance.

    BMC Cancer 15:33 (2015) PMID 25655024 PMCID PMC4342867

    The purpose of this study was to evaluate serum HE4 as a biomarker to detect recurrent disease during follow-up of patients with endometrial adenocarcinoma (EAC). We performed a retrospective analysis of 98 EAC patients treated at Innsbruck Medical University, between 1999 and 2009. Twenty-six p...
  8. miR-21-3p is a positive regulator of L1CAM in several human carcinomas.

    Cancer Letters 354(2):455 (2014) PMID 25149066

    Expression of L1 cell adhesion molecule (L1CAM) occurs frequently in human cancers and is associated with poor prognosis in cancers such as ovarian, endometrial, breast, renal cell carcinoma and pancreatic ductal adenocarcinoma. L1CAM promotes cell motility, invasion, chemoresistance and metasta...
  9. In situ proliferation contributes to accumulation of tumor-associated macrophages in spontaneous mammary tumors.

    European Journal of Immunology 44(8):2247 (2014) PMID 24796276

    Infiltration of a neoplasm with tumor-associated macrophages (TAMs) is considered an important negative prognostic factor and is functionally associated with tumor vascularization, accelerated growth, and dissemination. However, the ontogeny and differentiation pathways of TAMs are only incomple...
  10. Role of miR-34a as a suppressor of L1CAM in endometrial carcinoma.

    Oncotarget 5(2):462 (2014) PMID 24497324 PMCID PMC3964221

    L1CAM promotes cell motility, invasion and metastasis formation in various human cancers and can be considered as a driver of tumor progression. Knowledge about genetic processes leading to the presence of L1CAM in cancers is of considerable importance. Experimentally, L1CAM expression can be ac...
  11. A concept of a MIABIS based register of biosample collections at the Medical University of Innsbruck.

    Studies in Health Technology and Informatics 205:293 (2014) PMID 25160193

    The knowledge about the quality of samples and associated clinical data in biospecimen collections is a premise of clinical research. An electronic biosample register aims to facilitate the discovery of information about biosample collections in a hospital. Moreover, it might improve scientific ...
  12. High STAT1 mRNA levels but not its tyrosine phosphorylation are associated with macrophage infiltration and bad prognosis in breast cancer.

    BMC Cancer 14:257 (2014) PMID 24725474 PMCID PMC4021106

    STAT1 has been attributed a function as tumor suppressor. However, in breast cancer data from microarray analysis indicated a predictive value of high mRNA expression levels of STAT1 and STAT1 target genes belonging to the interferon-related signature for a poor response to therapy. To clarify t...
  13. Role of DNA methylation and epigenetic silencing of HAND2 in endometrial cancer development.

    PLOS Medicine 10(11):e1001551 (2013) PMID 24265601 PMCID PMC3825654

    Endometrial cancer incidence is continuing to rise in the wake of the current ageing and obesity epidemics. Much of the risk for endometrial cancer development is influenced by the environment and lifestyle. Accumulating evidence suggests that the epigenome serves as the interface between the ge...
  14. GALR1 methylation in vaginal swabs is highly accurate in identifying women with endometrial cancer.

    International Journal of Gynecological Cancer 23(6):1050 (2013) PMID 23727823

    Endometrial cancer has become the most common gynecological cancer in developed countries. Postmenopausal bleeding is indicative of the disease in only 1 of 10 women with this symptom. A noninvasive tool to identify women with cancer would be highly desirable. We analyzed more than 27,000 CpGs i...
  15. Long non-coding RNAs as targets for cytosine methylation.

    RNA Biology 10(6):1003 (2013) PMID 23595112 PMCID PMC4111728

    Post-synthetic modifications of nucleic acids have long been known to affect their functional and structural properties. For instance, numerous different chemical modifications modulate the structural organization, stability or translation efficiency of tRNAs and rRNAs. In contrast, little is kn...
  16. Epigenetic regulation of L1CAM in endometrial carcinoma: comparison to cancer-testis (CT-X) antigens.

    BMC Cancer 13:156 (2013) PMID 23530769 PMCID PMC3626534

    L1CAM was originally identified as an adhesion molecule involved in neural development. In many human carcinomas L1CAM is over-expressed and is associated with a bad prognosis. We previously reported that L1CAM was absent in the vast majority of endometrioid endometrial carcinomas (ECs) (type 1)...
  17. HE4 is an independent prognostic marker in endometrial cancer patients

    Gynecologic Oncology 126(2):186 (2012) PMID 22525819

    Objective To evaluate the prognostic value of pretherapeutic serum HE4 in endometrial cancer in comparison to CA125.
  18. HE4 is an independent prognostic marker in endometrial cancer patients

    Gynecologic Oncology 126(2):186 (2012) PMID 22525819

    Objective To evaluate the prognostic value of pretherapeutic serum HE4 in endometrial cancer in comparison to CA125.
  19. FOXO3/FKHRL1 is activated by 5-aza-2-deoxycytidine and induces silenced caspase-8 in neuroblastoma.

    Molecular Biology of the Cell 23(11):2226 (2012) PMID 22493319 PMCID PMC3364184

    Forkhead box O (FOXO) transcription factors control diverse cellular functions, such as cell death, metabolism, and longevity. We analyzed FOXO3/FKHRL1 expression and subcellular localization in tumor sections of neuroblastoma patients and observed a correlation between nuclear FOXO3 and high ca...
  20. The N-terminally truncated p53 isoform Δ40p53 influences prognosis in mucinous ovarian cancer.

    International Journal of Gynecological Cancer 22(3):372 (2012) PMID 22246403

    The tumor suppressor p53 generates the N-terminally truncated isoforms Δ40p53 and Δ133p53 that possess the ability to modulate p53 function in vitro. The aim of the present study was to evaluate the clinical relevance of p53 isoforms in the main histological subtypes of ovarian cancer. Δ40p53, Δ...