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4 results on '"Tops, Carli M"'

1. Constitutional mismatch repair deficiency in a healthy child : On the spot diagnosis?

Author

Suerink, Manon, Potjer, Thomas P., Versluijs, A. B., Ten Broeke, Sanne W., Tops, Carli M., Wimmer, K., and Nielsen, M.

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Lynch syndrome, PMS2, recessive genetic conditions, Genetics, HNPCC, Genetics(clinical), bMMRD, cafe-au-lait macules, CMMRD, nervous system diseases, hereditary cancer syndromes
Abstract

Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by biallelic germline mutations in one of the mismatch repair genes. The CMMRD phenotype overlaps with that of neurofibromatosis type 1 (NF1), since many patients have multiple café-au-lait macules (CALM) and other NF1 signs, but no germline NF1 mutations. We report of a case of a healthy 6-year-old girl who fulfilled the diagnostic criteria of NF1 with >6 CALM and freckling. Since molecular genetic testing was unable to confirm the diagnosis of NF1 or Legius syndrome and the patient was a child of consanguineous parents, we suspected CMMRD and found a homozygous PMS2 mutation that impairs MMR function. Current guidelines advise testing for CMMRD only in cancer patients. However, this case illustrates that including CMMRD in the differential diagnosis in suspected sporadic NF1 without causative NF1 or SPRED1 mutations may facilitate identification of CMMRD prior to cancer development. We discuss the advantages and potential risks of this CMMRD testing scenario.

Published
2018

2. Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia

Author

Schubert, Stephanie A, Ruano, Dina, Elsayed, Fadwa A, Boot, Arnoud, Crobach, Stijn, Sarasqueta, Arantza Farina, Wolffenbuttel, Bruce, van der Klauw, Melanie M, Oosting, Jan, Tops, Carli M, van Eijk, Ronald, Vasen, Hans Fa, Vossen, Rolf Ham, Nielsen, Maartje, Castellví-Bel, Sergi, Ruiz-Ponte, Clara, Tomlinson, Ian, Dunlop, Malcolm G, Vodicka, Pavel, Wijnen, Juul T, Hes, Frederik J, Morreau, Hans, de Miranda, Noel Fcc, Sijmons, Rolf H, van Wezel, Tom, and Medical Genetics

Subjects
chromosome 1q loci, Medicine(all), genetics, colorectal neoplasia
Abstract

Stephanie A Schubert, Dina Ruano, Fadwa A Elsayed, Arnoud Boot, Stijn Crobach, Arantza Farina Sarasqueta, Bruce Wolffenbuttel, Melanie M van der Klauw, Jan Oosting, Carli M Tops, Ronald van Eijk, Hans FA Vasen, Rolf HAM Vossen, Maartje Nielsen, Sergi Castellvi--Bel, Clara Ruiz-Ponte, Ian Tomlinson, Malcolm G Dunlop, Pavel Vodicka, Juul T Wijnen, Frederik J Hes, Hans Morreau, Noel FCC de Miranda, Rolf H Sijmons and Tom van Wezel Correction to: British Journal of Cancer (2017) 117, 1215-1223. doi:10.1038/bjc.2017.240; published online 25 July 2017 This manuscript was incorrectly published online in issue 117.6 of British Journal of Cancer. This has been rectified, and the paper is now published in issue 117.8. The publishers apologise for any inconvenience caused.

Published
2018

3. CORRIGENDUM: The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers

Author

Suerink, Manon, Van Der Klift, Heleen M., Ten Broeke, Sanne W., Dekkers, Olaf M., Bernstein, Inge, Munar, Gabriel Capell, Gomez Garcia, Encarna, Hoogerbrugge, Nicoline, Letteboer, Tom G W, Menko, Fred H., Lindblom, Annika, Mensenkamp, Arjen, Moller, Pal, Van Os, Theo A., Rahner, Nils, Redeker, Bert J W, Olderode-Berends, M. J W, Spruijt, Liesbeth, Vos, Yvonne J., Wagner, Anja, Morreau, Hans, Hes, Frederik J., Vasen, Hans F A, Tops, Carli M., Wijnen, Juul T., and Nielsen, Maartje

Subjects
Published Erratum, Genetics(clinical)
Published
2016

4. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Author

Thompson, Bryony A, Spurdle, Amanda B, Plazzer, John-Paul, Greenblatt, Marc S, Akagi, Kiwamu, Al-Mulla, Fahd, Bapat, Bharati, Bernstein, Inge, Capellá, Gabriel, den Dunnen, Johan T, du Sart, Desiree, Fabre, Aurelie, Farrell, Michael P, Farrington, Susan M, Frayling, Ian M, Frebourg, Thierry, Goldgar, David E, Heinen, Christopher D, Holinski-Feder, Elke, Kohonen-Corish, Maija, Robinson, Kristina Lagerstedt, Leung, Suet Yi, Martins, Alexandra, Moller, Pal, Morak, Monika, Nystrom, Minna, Peltomaki, Paivi, Pineda, Marta, Qi, Ming, Ramesar, Rajkumar, Rasmussen, Lene Juel, Royer-Pokora, Brigitte, Scott, Rodney J, Sijmons, Rolf, Tavtigian, Sean V, Tops, Carli M, Weber, Thomas, Wijnen, Juul, Woods, Michael O, Macrae, Finlay, Genuardi, Maurizio, Castillejo, Adela, Sexton, Adrienne, Chan, Anthony K W, Viel, Alessandra, Blanco, Amie, French, Amy, Laner, Andreas, Wagner, Anja, van den Ouweland, Ans, Mensenkamp, Arjen, Payá, Artemio, Betz, Beate, Redeker, Bert, Smith, Betsy, Espenschied, Carin, Cummings, Carole, Engel, Christoph, Fornes, Claudia, Valenzuela, Cristian, Alenda, Cristina, Buchanan, Daniel, Barana, Daniela, Konstantinova, Darina, Cairns, Dianne, Glaser, Elizabeth, Silva, Felipe, Lalloo, Fiona, Crucianelli, Francesca, Hogervorst, Frans, Casey, Graham, Tomlinson, Ian, Blanco, Ignacio, Villar, Isabel López, Garcia-Planells, Javier, Bigler, Jeanette, Shia, Jinru, Martinez-Lopez, Joaquin, Gille, Johan J P, Hopper, John, Potter, John, Soto, José Luis, Kantelinen, Jukka, Ellis, Kate, Mann, Kirsty, Varesco, Liliana, Zhang, Liying, Le Marchand, Loic, Marafie, Makia J, Nordling, Margareta, Tibiletti, Maria Grazia, Kahan, Mariano Ariel, Ligtenberg, Marjolijn, Clendenning, Mark, Jenkins, Mark, Speevak, Marsha, Digweed, Martin, Kloor, Matthias, Hitchins, Megan, Myers, Megan, Aronson, Melyssa, Valentin, Mev Dominguez, Kutsche, Michael, Parsons, Michael, Walsh, Michael, Kansikas, Minttu, Zahary, Mohd Nizam, Pedroni, Monica, Heider, Nao, Poplawski, Nicola, Rahner, Nils, Lindor, Noralane M, Sala, Paola, Nan, Peng, Propping, Peter, Newcomb, Polly, Sarin, Rajiv, Haile, Robert, Hofstra, Robert, Ward, Robyn, Tricarico, Rossella, Bacares, Ruben, Young, Sean, Chialina, Sergio, Kovalenko, Serguei, Gunawardena, Shanaka R, Moreno, Sira, Ho, Siu Lun, Yuen, Siu Tsan, Thibodeau, Stephen N, Gallinger, Steve, Burnett, Terrilea, Teitsch, Therese, Chan, Tsun Leung, Smyrk, Tom, Cranston, Treena, Psofaki, Vasiliki, Steinke-Lange, Verena, Barbera, Victor-Manuel, Universitat de Barcelona, Queensland Institute of Medical Research, sans affiliation, HNPCC-register, Hvidovre Hospital, University of Copenhagen = Københavns Universitet (KU), Programa de Diagnòstic Molecular de Càncer Hereditari, Laboratori de Recerca Translacional, Institut Català d'Oncologia-IDIBELL, Hospital Duran i Reynals, Hospitalet de Llobregat, Human Genetics, Centre de Physiopathologie Toulouse Purpan (CPTP), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institute of Medical Genetics, University Hospital of Wales, Génétique du cancer et des maladies neuropsychiatriques (GMFC), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), International Agency for Cancer Research (IACR), University Hospital of the Ludwig-Maximilians University, University Hospital of the Ludwig-Maximilian-University Munich, Medizinische Klinik â€' Innenstadt, Lehrstuhl für Endokrinologie/Diabetologie, Department of Biosciences, School of Materials and Metallurgy, Northeastern University [Boston], Department of Science, Discipline of Medical Genetic, Faculty of Health, The Hunter Medical Research Institute, University of Newcastle, Department of Oncological Sciences, University of Utah-Huntsman Cancer Institute, Department of Earth and Environmental Sciences [Rochester], University of Rochester [USA], Department of Clinical Genetics and GROM, School for Oncology and Developmental Biology, University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Medical Genetics Unit, Department of Clinical Physiopathology, Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), ACS - Amsterdam Cardiovascular Sciences, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Other Research, Neurology, Ethical, Legal, Social Issues in Genetics (ELSI), and Guided Treatment in Optimal Selected Cancer Patients (GUTS)

Subjects
medicine.medical_specialty, InSiGHT locus-specific database, MICROSATELLITE INSTABILITY, [SDV]Life Sciences [q-bio], MEDLINE, MISSENSE SUBSTITUTIONS, Locus (genetics), MSH6 GERMLINE MUTATIONS, Biology, computer.software_genre, Settore MED/03 - GENETICA MEDICA, DNA Mismatch Repair, LYNCH-SYNDROME, Article, Multidisciplinary approach, Càncer colorectal, Databases, Genetic, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], SEQUENCE VARIANTS, Genetics, medicine, PMS2, Malalties hereditàries, Humans, ComputingMilieux_MISCELLANEOUS, Gastrointestinal Neoplasms, Tumors, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Database, Classification, Disease Management, Genetic Variation, UNKNOWN CLINICAL-SIGNIFICANCE, COLON-CANCER, NONPOLYPOSIS COLORECTAL-CANCER, HUMAN GENOME VARIATION, medicine.disease, Colorectal cancer, Lynch syndrome, 3. Good health, MSH6, TUMOR CHARACTERISTICS, MSH2, Medical genetics, computer, Genetic diseases
Abstract

Contains fulltext : 138857.pdf (Publisher’s version ) (Closed access) The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases.

Published
2014

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