Search

Your search keyword '"Hans Erich Wichmann"' showing total 4 results
Start Over Author "Hans Erich Wichmann"
4 results on '"Hans Erich Wichmann"'

1. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

Author

Dieter Niederacher, Heiner Schaal, Constanze Wiek, Kornelia Neveling, Linda Hartmann, Detlev Schindler, Ellen Honisch, Bertram Müller-Myhsok, Peter Lichtner, Hans Erich Wichmann, Karin Kast, Christopher G. Mathew, Verena Erven, Helmut Hanenberg, Rita K. Schmutzler, Christoph Engel, Marcel Freund, Barbara Wappenschmidt, Heide Hellebrand, Juliane Ramser, Helmut Deissler, Marion Kiechle, Alfons Meindl, and Christian Kubisch

Subjects
Genetics, Mutation, PALB2, Cancer, Biology, medicine.disease, medicine.disease_cause, Breast cancer, Germline mutation, medicine, RAD51C, Breast disease, Ovarian cancer
Abstract

Germline mutations in a number of genes involved in the recombinational repair of DNA double-strand breaks are associated with predisposition to breast and ovarian cancer. RAD51C is essential for homologous recombination repair, and a biallelic missense mutation can cause a Fanconi anemia-like phenotype. In index cases from 1,100 German families with gynecological malignancies, we identified six monoallelic pathogenic mutations in RAD51C that confer an increased risk for breast and ovarian cancer. These include two frameshift-causing insertions, two splice-site mutations and two nonfunctional missense mutations. The mutations were found exclusively within 480 pedigrees with the occurrence of both breast and ovarian tumors (BC/OC; 1.3%) and not in 620 pedigrees with breast cancer only or in 2,912 healthy German controls. These results provide the first unambiguous evidence of highly penetrant mutations associated with human cancer in a RAD51 paralog and support the 'common disease, rare allele' hypothesis.

Published
2010

2. Common Genetic Variants in ANK2 Modulate QT Interval

Author

Stefan Kääb, Andreas Jeron, Siegfried Perz, Stefan Weber, Klaus Stark, Shane R Cunha, Kamil Sedlacek, Hans Erich Wichmann, Peter J. Mohler, Iris Berger, A. Pfeufer, and Christian Hengstenberg

Subjects
Adult, Ankyrins, Male, Genotype, Long QT syndrome, Population, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, QT interval, Electrocardiography, Gene Frequency, ANK2, Genetic model, Genetics, medicine, Humans, Genetic Predisposition to Disease, education, Allele frequency, Genetics (clinical), Aged, education.field_of_study, Homozygote, Middle Aged, medicine.disease, Long QT Syndrome, Regression Analysis, Population study, Female, Cardiology and Cardiovascular Medicine
Abstract

Background— Spatial and timely variations in QT interval, even within its normal range, may underlie susceptibility to cardiac arrhythmias and sudden cardiac death. Given its important role in cardiac electrophysiology, we hypothesized that common genetic variation in ankyrin-B gene ( ANK2 ) might modify QT interval length. Methods and Results— The study population consisted of 1188 participants of the World Health Organizational Multinational Monitoring of Trends and Determinants in Cardiovascular Disease (WHO MONICA) general population survey Cooperative Health Research in the Region of Augsburg (KORA S3). Corrected QT interval was calculated using population specific linear regression formulas. A total of 22 single-nucleotide polymorphisms in the genomic region of ANK2 gene were genotyped using TaqMan technology. In a replication study, 6 single nucleotide polymorphisms were genotyped in 3890 individuals from a second population study (KORA S4). The rare variant of the single-nucleotide polymorphism rs6850768 (allele frequency, 0.28) significantly influenced duration of the QT interval, both in KORA S3 and KORA S4 populations. In homozygotes, the shortening of the QT interval was 3.79 ms (95% CI, 1.48 to 5.58; P =0.001 and P =0.0008 for log-additive and dominant model, respectively) in KORA S3 and 2.94 ms (95% CI, 1.11 to 4.77; P =0.001 and P =0.006 for log-additive and dominant genetic model, respectively) in KORA S4. A common 2-locus haplotype (rs11098171-rs6850768; population frequency, 28%) was associated with a QT interval difference of 2.85 ms (permutation; P =0.006) in KORA S3 and 1.23 ms (permutation; P =0.009) in KORA S4. Reverse transcription–polymerase chain reaction expression analysis of the human ANK2 5′ genomic region in the human left ventricular tissue revealed 2 previously unidentified ANK2 5′ exons in the proximity of the identified variants. Conclusions— Common genetic variants juxtaposed with novel exons in the distant 5′ genomic region of ANK2 influence the QT interval length in the general population. These findings support the role of ankyrin-B in normal cardiac electric activity.

Published
2008

3. Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

Author

Peter Propping, Martin Scheer, Michael Knapp, Stefan Herms, Carlotta Baluardo, Sandra Barth, Thomas Meitinger, Bettina Blaumeiser, Simone Pötzsch, Markus M. Nöthen, Jessica Becker, Bert Braumann, Per Hoffmann, Thomas F. Wienker, Sven Cichon, Melissa Ferrian, Peter A. Mossey, Stefan Schreiber, Michele Rubini, Nadine Kluck, Michael Steffens, Régine P.M. Steegers-Theunissen, Michael Krawczak, Nilma Almeida de Assis, Anna Paul, Stefanie Birnbaum, Heiko Reutter, Gül Schmidt, Manuel Mattheisen, Kerstin U. Ludwig, Rudolf H. Reich, Carola Lauster, Hans Erich Wichmann, Taofik Al Chawa, Elisabeth Mangold, Susanne Moebus, Franz Josef Kramer, Alexander Hemprich, and Obstetrics & Gynecology

Subjects
Genome-wide association study, Cleft Lip, Medizin, Locus (genetics), Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Cleft lip and palate, Genotype, Genetics, Humans, GWAS, Genetic Predisposition to Disease, genetics, birth defects, NOG, VAX1, 030304 developmental biology, 0303 health sciences, 030305 genetics & heredity, Chromosome Mapping, Cleft Palate, Relative risk, nonsyndromic cleft lip, Susceptibility locus, IRF6, Human medicine, Congenital disease
Abstract

We conducted a genome-wide association study for nonsyndromic cleft lip with or without cleft palate (NSCL/P) in 401 affected individuals and 1,323 controls, with replication in an independent sample of 793 NSCL/P triads. We report two new loci associated with NSCL/P at 17q22 (rs227731, combined P = 1.07 × 10−8, relative risk in homozygotes = 1.84, 95% CI 1.342.53) and 10q25.3 (rs7078160, combined P = 1.92 × 10−8, relative risk in homozygotes = 2.17, 95% CI 1.323.56).

Published
2009

4. Lung cancer risk among bakers, pastry cooks and confectionary makers: the SYNERGY study

Author

Maria Teresa Landi, Per Gustavsson, John R. McLaughlin, Hans Erich Wichmann, Tabea Treppmann, David Zaridze, Florence Guida, Kurt Straif, Roel Vermeulen, Nils Plato, Eleonora Fabianova, Lap Ah Tse, Marie-Élise Parent, Vladimir Janout, Peter Rudnai, Vladimir Bencko, Neil E. Caporaso, Ann Olsson, Neil Pearce, Adonina Tardón, Paolo Boffetta, Isabelle Stücker, Lorenzo Richiardi, Dario Consonni, Rodica Stanescu Dumitru, Andrea 't Mannetje, Thomas Behrens, Neonila Szeszenia-Dabrowska, Karl-Heinz Jöckel, Franco Merletti, Ignatius Tak-sun Yu, Bas Bueno-de-Mesquita, Dario Mirabelli, Simone Benhamou, Jolanta Lissowska, Hermann Pohlabeln, Hans Kromhout, Susan Peters, Lenka Foretova, John K. Field, Joachim Schüz, Irene Brüske, Lorenzo Simonato, Thomas Brüning, Wolfgang Ahrens, Beate Pesch, Benjamin Kendzia, Jack Siemiatycki, Paul A. Demers, Institute for Prevention and Occupational Medicine of the German Social Accident Insurance (IPA), Centre International de Recherche contre le Cancer - International Agency for Research on Cancer (CIRC - IARC), Organisation Mondiale de la Santé / World Health Organization Office (OMS / WHO), The Institute of Environmental Medicine [Stockholm] (IMM), Karolinska Institutet [Stockholm], Institute for Medical Informatics, Biometry and Epidemiology, University Hospital of Essen, Leibniz Institute for Prevention Research and Epidemiology - BIPS, Leibniz Association, Institute for Statistics, University of Bremen, Institute of Epidemiology I, German Research Center for Environmental Health-Helmholtz-Zentrum München (HZM), Cancer Epidemiology Unit, Université de Turin, Department of Environmental Medicine and Public Health, Universita degli Studi di Padova, Institute of Carcinogenesis, Russian Academy of Medical Sciences, The Nofer Institute of Occupational Medicine, National Institute of Environmental Health, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Regional Authority of Public Health [Slovaquia] (RAPH), Ministry of Health of the Slovak Republic [Slovaquia], Molecular Epidemiology of Cancer Unit, CIBER de Epidemiología y Salud Pública (CIBERESP), Roy Castle Lung Cancer Research Programme, University of Liverpool, National Institute of Public Health [Romania] (INSP), Institute of Hygiene and Epidemiology, Charles University [Prague] (CU)-1st Faculty of Medicine, Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute (RECAMO), Faculty of Medicine, Palacky University Olomouc, Centre de Recherche du Centre Hospitalier de l’Université de Montréal (CR CHUM), Centre Hospitalier de l'Université de Montréal (CHUM), Université de Montréal (UdeM)-Université de Montréal (UdeM), Institut Armand Frappier (INRS-IAF), Réseau International des Instituts Pasteur (RIIP)-Institut National de la Recherche Scientifique [Québec] (INRS), Cancer Care Ontario, Occupational Cancer Research Centre, National Cancer Institute [Bethesda] (NCI-NIH), National Institutes of Health [Bethesda] (NIH), Division of Environmental Epidemiology, Utrecht University [Utrecht]-Institute of Risk Assessment Sciences, Western Australian Institute for Medical Research, The University of Western Australia (UWA), Variabilité Génétique et Maladies Humaines, Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche en épidémiologie et santé des populations (CESP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), University Paris-Sud, Unit of Epidemiology, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, National Institute for Public Health and the Environment [Bilthoven] (RIVM), Centre for Public Health Research, Faculty of Epidemiology and Population Health [London], London School of Hygiene and Tropical Medicine (LSHTM), Division of Occupational and Environmental Health, JC School of Public Health and Primary Care, The Chinese University of Hong Kong [Hong Kong]-The Chinese University of Hong Kong [Hong Kong], The Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai [New York] (MSSM), International Prevention Research Institute (IPRI), This study was supported by the German Social Accident Insurance, grant FP 271. Grant sponsors of the individual studies were the Canadian Institutes of Health Research and Guzzo-SRC Chair in Environment and Cancer, the Fondation de France, the German Federal Ministry of Education, Science, Research, and Technology and the Ministry of Labour and Social Affairs, the EC's INCO-COPERNICUS Program, the Polish State Committee for Science Research, the Roy Castle Foundation, the NIH/NCI/DCEG Intramural Research Program, Lombardy Region, INAIL and the European Union Nuclear Fission Safety Program, the Italian Association for Cancer Research, Region Piedmont, the Compagnia di San Paolo, the Europe Against Cancer Program, the Swedish Council for Work Life Research and the Swedish EPA, the University of Oviedo, the European Regional Development Fund and the State Budget of the Czech Republic (RECAMO, CZ.1.05/2.1.00/03.0101), CIBERESP and FISS-PI060604., Behrens, T., Kendzia, B., Treppmann, T., Olsson, A., Jöckel, K.-H., Gustavsson, P., Pohlabeln, H., Ahrens, W., Brüske, I., Wichmann, H.-E., Merletti, F., Mirabelli, D., Richiardi, L., Simonato, L., Zaridze, D., Szeszenia-Dabrowska, N., Rudnai, P., Lissowska, J., Fabianova, E., Tardón, A., Field, J., Dumitru, R.S., Bencko, V., Foretova, L., Janout, V., Siemiatycki, J., Parent, M.-E., McLaughlin, J., Demers, P., Landi, M.T., Caporaso, N., Kromhout, H., Vermeulen, R., Peters, S., Benhamou, S., Stücker, I., Guida, F., Consonni, D., Bueno-de-Mesquita, B., Mannetje, A.'., Pearce, N., Tse, L.A., Yu, I.T.-S., Plato, N., Boffetta, P., Straif, K., Schüz, J., Pesch, B., and Brüning, T.

Subjects
Male, xposure to occupational lung carcinogens, Lung Neoplasms, [SDV]Life Sciences [q-bio], Medizin, MESH: Logistic Models, Logistic regression, MESH: Occupational Exposure, baker, 0302 clinical medicine, Risk Factors, MESH: Risk Factors, Odds Ratio, Food Industry, smoking behaviour, baking-related occupation, Control subjects, 030210 environmental & occupational health, MESH: Case-Control Studies, MESH: Food Industry, Occupational Diseases, 030220 oncology & carcinogenesis, Smoking status, Female, MESH: Occupational Diseases, medicine.medical_specialty, Article, 03 medical and health sciences, Occupational Exposure, medicine, Humans, Occupations, Lung cancer, MESH: Occupations, MESH: Humans, business.industry, Public Health, Environmental and Occupational Health, Case-control study, Odds ratio, medicine.disease, MESH: Male, MESH: Odds Ratio, Surgery, MESH: Lung Neoplasms, lung cancer, Increased risk, Logistic Models, Case-Control Studies, business, MESH: Female, Demography
Abstract

Introduction Some studies have suggested increased lung cancer risks among bakers, however the results overall were inconsistent. The authors studied lung cancer risks among bakers and baking-related occupations in the SYNERGY pooled case–control database from 16 countries. Methods Occupation in a baking-related job was identified from the subjects’ job histories. ORs adjusted for log(age), study centre, smoking behaviour and ever employment in a job with known exposure to occupational lung carcinogens were calculated by unconditional logistic regression. Findings were stratified by sex, histological subtype of lung cancer and smoking status. Results 19 366 cases (15 606 men) and 23 670 control subjects (18 528 men) were included. 473 cases (415 men, 58 women) and 501 controls (437 men, 64 women) had ever worked in baking or a related job. We did not observe an increased risk for men in baking (OR 1.01; 95% CI 0.86 to 1.18). No linear trends were observed for duration of employment. Some results suggested increased lung cancer risks for women, for example, for working as a baker for >30 years and in never-smokers, but after exclusion of one study these increased risks disappeared. Discussion The findings from this study do not suggest increased lung cancer risks in baking-related professions.

Published
2013

Catalog

Books, media, physical & digital resources
See catalog results