A5008360141- Occupational and environmental lung diseases
- Cancer Research and Treatments
- Medical Imaging and Pathology Studies
- Cutaneous Melanoma Detection and Management
- Telomeres, Telomerase, and Senescence
- Tissue Engineering and Regenerative Medicine
- melanin and skin pigmentation
- Melanoma and MAPK Pathways
- DNA Repair Mechanisms
- Genomics and Chromatin Dynamics
- Cancer Genomics and Diagnostics
- Nonmelanoma Skin Cancer Studies
- Glioma Diagnosis and Treatment
- Bladder and Urothelial Cancer Treatments
- Cancer and Skin Lesions
- Insect and Pesticide Research
- Animal Behavior and Reproduction
- Skin Protection and Aging
- Sarcoma Diagnosis and Treatment
- Ocular Oncology and Treatments
- Wildlife Conservation and Criminology Analyses
- Hedgehog Signaling Pathway Studies
- Animal and Plant Science Education
- Economic and Environmental Valuation
- Rabbits: Nutrition, Reproduction, Health
German Cancer Research Center
2013-2020
Heidelberg University
2013-2020
DKFZ-ZMBH Alliance
2017
Lund University
2014
LMU Klinikum
2014
University of Bonn
2014
University of Surrey
2011
The telomerase reverse transcriptase (TERT) promoter, an important element of expression, has emerged as a target cancer-specific mutations. Originally described in melanoma, the mutations TERT promoter have been shown to be common certain other tumor types that include glioblastoma, hepatocellular carcinoma, and bladder cancer. To fully define occurrence effect mutations, we investigated tumors from well-characterized series 327 patients with urothelial cell carcinoma bladder. somatic...
BackgroundActivating somatic mutations in the promoter region of telomerase reverse transcriptase gene (TERT) have been detected several cancers. In this study we investigated TERT and their impact on patient survival World Health Organization grade IV glioblastoma multiforme (GBM).
Despite advances in targeted therapies, the treatment of advanced melanoma remains an exercise disease management, hence a need for biomarkers identification at-risk primary patients. In this study, we aimed to assess prognostic value TERT promoter mutations melanomas. Tumors from 300 patients with stage I/II were sequenced and BRAF/NRAS mutations. Cumulative curves drawn without progression-free melanoma-specific survival as outcomes. Cox proportional hazard regression models used determine...
// Barbara Heidenreich 1 , P. Sivaramakrishna Rachakonda Ismail Hosen Florian Volz 2 Kari Hemminki 1, 3 Astrid Weyerbrock Rajiv Kumar Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg 69120, Germany Department Neurosurgery, University Medical Center Freiburg, Freiburg 79106, for Primary Health Care Research, Lund University, Malmö, 22100, Sweden Correspondence to: Heidenreich, e-mail: b.heidenreich@dkfz.de Kumar, r.kumar@dkfz.de Keywords: Gliomas, TERT...
Mutations in the promoter of telomerase reverse transcriptase (TERT) and fibroblast growth factor receptor 3 (FGFR3) genes constitute most recurrent somatic alterations urothelial carcinoma bladder. In this study, we screened DNA from 327 bladder carcinomas well-documented patients, with different stages grades known TERT mutational status, for FGFR3 measured relative telomere length (RTL). Although, frequency mutations was higher than those FGFR3; however, at two loci occurred together more...
// Evgeniya Denisova 1 , Barbara Heidenreich Eduardo Nagore 2 P. Sivaramakrishna Rachakonda Ismail Hosen Ivana Akrap 3 Víctor Traves 4 Zaida García-Casado 5 José Antonio López-Guerrero Celia Requena Onofre Sanmartin Carlos Serra-Guillén Beatriz Llombart Guillén Jose Ferrando 6 Enrique Gimeno Alfred Nordheim 3,7 Kari Hemminki 1,8 and Rajiv Kumar Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany Department Dermatology, Instituto Valenciano de...
// Andrelou F. Vallarelli 1, 2, 3 , P. Sivaramakrishna Rachakonda 4 Jocelyne André 2 Barbara Heidenreich Laurence Riffaud Armand Bensussan Rajiv Kumar Nicolas Dumaz 1 INSERM, U976, Skin Research Centre, Hôpital Saint-Louis, Paris, F-75010, France Université Paris Diderot, Sorbonne Cité, UMRS976, Department of Internal Medicine, School Medicine Sciences, State University Campinas (UNICAMP), 13083-970, Campinas, SP, Brazil Division Molecular Genetic Epidemiology, German Cancer Center, 69120...
We screened promoter region of the telomerase reverse transcriptase (TERT) for activating somatic mutations in 188 tumors from patients with clear cell renal carcinoma (ccRCC). Twelve (6.4%) carried a mutation within core gene. The were less frequent high grade compared to low [odds ratio (OR) = 0.15, 95% confidence interval (CI) 0.03-0.72, p 0.02]. Multivariate analysis cause specific survival showed statistically significant poor outcome TERT [hazard (HR) 2.90, CI 1.13-7.39, 0.03]. A...
Telomere repeats at chromosomal ends, critical for genomic integrity, undergo age‐dependent attrition and telomere length has been associated with different disorders including cancers. In this study, based on 1469 patients 1158 healthy controls, we show a statistically significant ( P = 6 × 10 −10 ) association between increased melanoma risk. Mendelian randomization, using 5 length‐associated polymorphisms, ruled out confounding factors or reverse causality showed risk odds ratio of 2.66...
Seborrheic keratoses are common benign epidermal lesions that associated with increased age and sun-exposure. Those despite harboring multiple somatic alterations in contrast to malignant tumors appear be genetically stable. In order investigate characterize the presence of recurrent mutations, we performed exome sequencing on DNA from one seborrheic keratosis lesion corresponding blood cells same patients follow up investigation identified by 24 additional as many patients. addition...
Human malignant pleural mesothelioma (MPM) is characterized by dismal prognosis. Consequently, dissection of molecular mechanisms driving malignancy key importance. Here we investigate whether activating mutations in the telomerase reverse transcriptase (
Basal cell carcinoma (BCC) represents the most commonly diagnosed human cancer among persons of European ancestry with etiology mainly attributed to sun-exposure. In this study we investigated mutations in coding and flanking regions PTCH1 TP53 noncoding alterations TERT DPH3 promoters 191 BCC tumors. addition, measured CpG methylation within hypermethylated oncological region (THOR) transcription levels reverse transcriptase subunit. We observed 58.6% 31.4% Noncoding were detected 59.2%...
// Huaping Xie 1, 2 , P. Sivaramakrishna Rachakonda Barbara Heidenreich Eduardo Nagore 3 Antje Sucker 4 Kari Hemminki 2, 5 Dirk Schadendorf 4, 6 Rajiv Kumar 1 Department of Gastroenterology, Tongji Hospital, Medical College, Huazhong University Science and Technology, Wuhan, China Division Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany Dermatology, Instituto Valenciano de Oncologia, Valencia, Spain Hospital Essen, Center for Primary Health Care Research,...