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3 results on '"Nelen, M.R."'

1. Association of PHB 1630 C > T and MTHFR 677 C > T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

Author

Jakubowska, A., Rozkrut, D., Antoniou, A., Hamann, U., Scott, R.J., McGuffog, L., Healy, S., Sinilnikova, O.M., Rennert, G., Lejbkowicz, F., Flugelman, A., Andrulis, I.L., Glendon, G., Ozcelik, H., Thomassen, M., Paligo, M., Aretini, P., Kantala, J., Aroer, B., Wachenfeldt, A. von, Liljegren, A., Loman, N., Herbst, K., Kristoffersson, U., Rosenquist, R., Karlsson, P., Stenmark-Askmalm, M., Melin, B., Nathanson, K.L., Domchek, S.M., Byrski, T., Huzarski, T., Gronwald, J., Menkiszak, J., Cybulski, C., Serrano, P., Osorio, A., Cajal, T.R., Tsitlaidou, M., Benitez, J., Gilbert, M., Rookus, M., Aalfs, C.M., Kluijt, I., Boessenkool-Pape, J.L., Meijers-Heijboer, H.E.J., Oosterwijk, J.C., Asperen, C.J. van, Blok, M.J., Nelen, M.R., Ouweland, A.M.W. van den, Seynaeve, C., Luijt, R.B. van der, Devilee, P., Easton, D.F., Peock, S., Frost, D., Platte, R., Ellis, S.D., Fineberg, E., Evans, D.G., Lalloo, F., Eeles, R., Jacobs, C., Adlard, J., Davidson, R., Eccles, D., Cole, T., Cook, J., Godwin, A., Bove, B., Stoppa-Lyonnet, D., Caux-Moncoutier, V., Belotti, M., Tirapo, C., Mazoyer, S., Barjhoux, L., Boutry-Kryza, N., Pujol, P., Coupier, I., Peyrat, J.P., Vennin, P., Muller, D., Fricker, J.P., Venat-Bouvet, L., Johannsson, O., Isaacs, C., Schmutzler, R., Wappenschmidt, B., Meindl, A., Arnold, N., Varon-Mateeva, R., Niederacher, D., Sutter, C., Deissler, H., Preisler-Adams, S., Simard, J., Soucy, P., Durocher, F., Chenevix-Trench, G., Beesley, J., Chen, X., Rebbeck, T., Couch, F., Wang, X., Lindor, N., Fredericksen, Z., Pankratz, V.S., Peterlongo, P., Bonanni, B., Fortuzzi, S., Peissel, B., Szabo, C., Mai, P.L., Loud, J.T., Lubinski, J., OCGN, SWE BRCA, HEBON, EMBRACE, GEMO Study Collaborators, KConFab, CIMBA, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Human Genetics, CCA -Cancer Center Amsterdam, ARD - Amsterdam Reproduction and Development, Genetica & Celbiologie, Klinische Genetica, RS: GROW - School for Oncology and Reproduction, Clinical Genetics, Medical Oncology, IHS, Human genetics, and CCA - Oncogenesis

Subjects
Oncology, Cancer Research, endocrine system diseases, BRCA1/2 mutation carriers, METHYLENETETRAHYDROFOLATE REDUCTASE MTHFR, Genes, BRCA2, Genes, BRCA1, DCN PAC - Perception action and control, SUSCEPTIBILITY, medicine.disease_cause, Bioinformatics, T+polymorphism%22">PHB 1630 C>T polymorphism, 0302 clinical medicine, PROHIBITIN 3'-UNTRANSLATED REGION, Genotype, Prohibitin, skin and connective tissue diseases, breast/ovarian cancer risk, Ovarian Neoplasms, 0303 health sciences, FOLATE STATUS, CARCINOGENESIS, Penetrance, 3. Good health, 030220 oncology & carcinogenesis, Female, +T+polymorphism%22">PHB 1630 C > T polymorphism, CHROMOSOME-17, Risk, EXPRESSION, medicine.medical_specialty, Heterozygote, Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1], Breast Neoplasms, +T+polymorphism%22">MTHFR 677 C > T polymorphism, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Breast cancer, SDG 3 - Good Health and Well-being, Translational research [ONCOL 3], Internal medicine, Prohibitins, medicine, Humans, Genetic Predisposition to Disease, Genetics and epigenetic pathways of disease Translational research [NCMLS 6], Methylenetetrahydrofolate Reductase (NADPH2), 030304 developmental biology, Polymorphism, Genetic, Hereditary cancer and cancer-related syndromes [ONCOL 1], Biology and Life Sciences, Genetics and Genomics, medicine.disease, GENE, Minor allele frequency, Repressor Proteins, COMMON MUTATION, T+polymorphism%22">MTHFR 677 C>T polymorphism, Methylenetetrahydrofolate reductase, Mutation, biology.protein, RNA, Carcinogenesis, Ovarian cancer
Abstract

BACKGROUND: The variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. Two genes of special interest are prohibitin (PHB) and methylene-tetrahydrofolate reductase (MTHFR), both of which are important either directly or indirectly in maintaining genomic integrity.METHODS: To evaluate the potential role of genetic variants within PHB and MTHFR in breast and ovarian cancer risk, 4102 BRCA1 and 2093 BRCA2 mutation carriers, and 6211 BRCA1 and 2902 BRCA2 carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) were genotyped for the PHB 1630 C>T (rs6917) polymorphism and the MTHFR 677 C>T (rs1801133) polymorphism, respectively.RESULTS: There was no evidence of association between the PHB 1630 C>T and MTHFR 677 C>T polymorphisms with either disease for BRCA1 or BRCA2 mutation carriers when breast and ovarian cancer associations were evaluated separately. Analysis that evaluated associations for breast and ovarian cancer simultaneously showed some evidence that BRCA1 mutation carriers who had the rare homozygote genotype (TT) of the PHB 1630 C>T polymorphism were at increased risk of both breast and ovarian cancer (HR 1.50, 95% CI 1.10-2.04 and HR 2.16, 95% CI 1.24-3.76, respectively). However, there was no evidence of association under a multiplicative model for the effect of each minor allele.CONCLUSION: The PHB 1630TT genotype may modify breast and ovarian cancer risks in BRCA1 mutation carriers. This association need to be evaluated in larger series of BRCA1 mutation carriers. British Journal of Cancer (2012) 106, 2016-2024. doi:10.1038/bjc.2012.160 www.bjcancer.com Published online 15 May 2012 (C) 2012 Cancer Research UK

Published
2012

2. Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

Author

Walker, L.C., Fredericksen, Z.S., Wang, X.S., Tarrell, R., Pankratz, V.S., Lindor, N.M., Beesley, J., Healey, S., Chen, X.Q., Fab, K.C., Stoppa-Lyonnet, D., Tirapo, C., Giraud, S., Mazoyer, S., Muller, D., Fricker, J.P., Delnatte, C., Schmutzler, R.K., Wappenschmidt, B., Engel, C., Schonbuchner, I., Deissler, H., Meindl, A., Hogervorst, F.B., Verheus, M., Hooning, M.J., Ouweland, A.M.W. van den, Nelen, M.R., Ausems, M.G.E.M., Aalfs, C.M., Asperen, C.J. van, Devilee, P., Gerrits, M.M., Waisfisz, Q., Szabo, C.I., Quad, M.S., Easton, D.F., Peock, S., Cook, M., Oliver, C.T., Frost, D., Harrington, P., Evans, D.G., Lalloo, F., Eeles, R., Izatt, L., Chu, C., Davidson, R., Eccles, D., Ong, K.R., Cook, J., Rebbeck, T., Nathanson, K.L., Domchek, S.M., Singer, C.F., Gschwantler-Kaulich, D., Dressler, A.C., Pfeiler, G., Godwin, A.K., Heikkinen, T., Nevanlinna, H., Agnarsson, B.A., Caligo, M.A., Olsson, H., Kristoffersson, U., Liljegren, A., Arver, B., Karlsson, P., Melin, B., Sinilnikova, O.M., McGuffog, L., Antoniou, A.C., Chenevix-Trench, G., Spurdle, A.B., Couch, F.J., Gemo Study Collaborators, HEBON, EMBRACE, SWE BRCA, Easton, Douglas [0000-0003-2444-3247], Antoniou, Antonis [0000-0001-9223-3116], Apollo - University of Cambridge Repository, Division of Genetics and Population Health, Queensland Institute of Medical Research, Department of Laboratory Medicine and Pathology, Mayo Clinic, Pathologie moléculaire des cancers, Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Léon Bérard [Lyon]-Hospices Civils de Lyon (HCL), Génétique moléculaire, signalisation et cancer (GMSC), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Unité d'Oncogénétique, CLCC Paul Strauss, Centre René Gauducheau, Centre for Hereditary Breast and Ovarian Cancer, Department of Obstetrics and Gynaecology-University of Cologne, Institute for Medical Informatics, Statistics and Epidemiology [Leipzig] (IMISE), Universität Leipzig [Leipzig], Institute of Human Genetics, Julius-Maximilians-Universität Würzburg [Wurtzbourg, Allemagne] (JMU), Department of Obstetrics and Gynaecology, Universität Ulm - Ulm University [Ulm, Allemagne], Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Klinikum Rechts der Isar-Division of Tumor Genetics, Family Cancer Clinic, The Netherlands Cancer Institute, Department of Epidemiology, Netherlands Cancer Institute, Department of Medical Oncology, Erasmus University Medical Center [Rotterdam] (Erasmus MC)-Family Cancer Clinic, Department of Clinical Genetics, Department of Human Genetics, University Nijmegen Medical Centre, Department of Medical Genetics, University Medical Center [Utrecht], Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), University of Amsterdam [Amsterdam] (UvA)-University of Amsterdam [Amsterdam] (UvA), Leiden University Medical Center (LUMC), Department of Human Genetics & Department of Pathology, Department of Genetics and Cell Biology, VU University Medical Center [Amsterdam], Strangeways Research Laboratory, University of Cambridge [UK] (CAM)-Department of Public Health and Primary Care-Centre for Cancer Genetic Epidemiology, Centre for Cancer Genetic Epidemiology [Cambridge], Department of Oncology-University of Cambridge [UK] (CAM), Genetic Medicine, St Mary's Hospital-NHS Foundation Trust-Manchester Academic Health Sciences Centre-Central Manchester University Hospitals, Oncogenetics Team, The Institute of Cancer Research-Royal Marsden NHS Foundation Trust, Clinical Genetics Department, Guy's and St Thomas NHS Foundation Trust-Guys Hospital, Yorkshire Regional Genetics Service, St. James's Hospital, Ferguson-Smith Centre for Clinical Genetics, Wessex Clinical Genetics Service, Princess Anne Hospital-Cancer Sciences Division, West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania [Philadelphia]-University of Pennsylvania [Philadelphia], Division of Special Gynecology, Medizinische Universität Wien = Medical University of Vienna-Department of OB/GYN, Women's Cancer Program, Fox Chase Cancer Center, Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Department of Pathology, University Hospital and University of Iceland School of Medicine, Section of Genetic Oncology, University of Pisa - Università di Pisa, Department of Oncology, Lund University Hospital, Karolinska University Hospital [Stockholm], Sahlgrenska University Hospital [Gothenburg], Department of Radiation Sciences and Oncology, Umeå University, kConFab, GEMO Study Collaborators, HEBON, ModSQuaD, EMBRACE, SWE-BRCA, Human Genetics, BMC, Ed., Julius-Maximilians-Universität Würzburg (JMU), University of Cambridge [UK] (CAM)-Department of Oncology, University of Pennsylvania-University of Pennsylvania, Medical Oncology, Clinical Genetics, Gastroenterology & Hepatology, Targeted Gynaecologic Oncology (TARGON), and Damage and Repair in Cancer Development and Cancer Treatment (DARE)

Subjects
MESH: Signal Transduction, Linkage disequilibrium, Candidate gene, endocrine system diseases, Genes, BRCA2, Gene Expression, Genome-wide association study, Gene mutation, Linkage Disequilibrium, 0302 clinical medicine, MESH: Aged, 80 and over, MESH: Risk Factors, Risk Factors, Transforming Growth Factor beta, INVESTIGATORS, skin and connective tissue diseases, POPULATION, Medicine(all), Genetics, MESH: Aged, Aged, 80 and over, 0303 health sciences, MESH: Middle Aged, MESH: Polymorphism, Single Nucleotide, MESH: Genetic Predisposition to Disease, Middle Aged, BRCA2 Protein, MESH: Linkage Disequilibrium, 030220 oncology & carcinogenesis, Female, Signal Transduction, Research Article, Adult, MESH: Mutation, MESH: Gene Expression, GENES, Single-nucleotide polymorphism, [SDV.CAN]Life Sciences [q-bio]/Cancer, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, OVARIAN-CANCER, PROPHYLACTIC OOPHORECTOMY, 03 medical and health sciences, Breast cancer, [SDV.CAN] Life Sciences [q-bio]/Cancer, SDG 3 - Good Health and Well-being, medicine, MESH: Smad3 Protein, Humans, Genetic Predisposition to Disease, COHORT, Smad3 Protein, GENOME-WIDE ASSOCIATION, MESH: Transforming Growth Factor beta, 030304 developmental biology, Genetic association, Aged, MESH: Humans, CONSORTIUM, MESH: Adult, ALLELES, medicine.disease, POLYMORPHISM, Cancer and Oncology, MESH: Genome-Wide Association Study, Mutation, MESH: Female, MESH: Breast Neoplasms, MESH: Genes, BRCA2, Genome-Wide Association Study
Abstract

Introduction: Current attempts to identify genetic modifiers of BRCA1 and BRCA2 associated risk have focused on a candidate gene approach, based on knowledge of gene functions, or the development of large genome-wide association studies. In this study, we evaluated 24 SNPs tagged to 14 candidate genes derived through a novel approach that analysed gene expression differences to prioritise candidate modifier genes for association studies.Methods: We successfully genotyped 24 SNPs in a cohort of up to 4,724 BRCA1 and 2,693 BRCA2 female mutation carriers from 15 study groups and assessed whether these variants were associated with risk of breast cancer in BRCA1 and BRCA2 mutation carriers.Results: SNPs in five of the 14 candidate genes showed evidence of association with breast cancer risk for BRCA1 or BRCA2 carriers (P Conclusions: This study provides evidence that the SMAD3 gene, which encodes a key regulatory protein in the transforming growth factor beta signalling pathway and is known to interact directly with BRCA2, may contribute to increased risk of breast cancer in BRCA2 mutation carriers. This finding suggests that genes with expression associated with BRCA1 and BRCA2 mutation status are enriched for the presence of common genetic modifiers of breast cancer risk in these populations.

Published
2010

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