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Wyszukujesz frazę ""Colorectal Neoplasms, Hereditary Nonpolyposis"" wg kryterium: Temat


Tytuł:
Attenuated huntingtin gene CAG nucleotide repeat size in individuals with Lynch syndrome.
Autorzy:
Dalene Skarping K; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.; Department of Clinical Genetics and Pathology, Office for Medical Service, 221 85, Lund, Sweden.; Translational Neuroendocrine Research Unit, Department of Experimental Medical Science, Lund University, Lund, Sweden.
Arning L; Department of Human Genetics, Faculty of Medicine, Ruhr University Bochum, Universitätsstr. 150, 44801, Bochum, Germany.
Petersén Å; Translational Neuroendocrine Research Unit, Department of Experimental Medical Science, Lund University, Lund, Sweden.
Nguyen HP; Department of Human Genetics, Faculty of Medicine, Ruhr University Bochum, Universitätsstr. 150, 44801, Bochum, Germany. .
Gebre-Medhin S; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden. .; Department of Clinical Genetics and Pathology, Office for Medical Service, 221 85, Lund, Sweden. .
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Źródło:
Scientific reports [Sci Rep] 2024 Feb 21; Vol. 14 (1), pp. 4300. Date of Electronic Publication: 2024 Feb 21.
Typ publikacji:
Journal Article
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Huntington Disease*/genetics
Huntington Disease*/pathology
Humans ; Trinucleotide Repeat Expansion ; Alleles ; DNA Mismatch Repair/genetics ; Huntingtin Protein/genetics
Czasopismo naukowe
Tytuł:
Gut microbial signatures are associated with Lynch syndrome (LS) and cancer history in Druze communities in Israel.
Autorzy:
Naddaf R; Technion Israel Institute of Technology the Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.; Rappaport Technion Integrated Cancer Center, Haifa, Israel.
Carasso S; Technion Israel Institute of Technology the Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.; Rappaport Technion Integrated Cancer Center, Haifa, Israel.
Reznick-Levi G; Genetics Institute Rambam Health Care Campus, Haifa, Israel.
Hasnis E; Technion Israel Institute of Technology the Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.; Gastroenterology Institute Rambam Health Care Campus, Haifa, Israel.
Qarawani A; Technion Israel Institute of Technology the Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.; Rappaport Technion Integrated Cancer Center, Haifa, Israel.
Maza I; Technion Israel Institute of Technology the Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.; Gastroenterology Institute Rambam Health Care Campus, Haifa, Israel.
Gefen T; Technion Israel Institute of Technology the Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.; Rappaport Technion Integrated Cancer Center, Haifa, Israel.
Half EE; Technion Israel Institute of Technology the Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel. E_.; Gastroenterology Institute Rambam Health Care Campus, Haifa, Israel. E_.
Geva-Zatorsky N; Technion Israel Institute of Technology the Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel. .; Rappaport Technion Integrated Cancer Center, Haifa, Israel. .; Canadian Institute for Advanced Research, Toronto, ON, Canada. .
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Źródło:
Scientific reports [Sci Rep] 2023 Nov 24; Vol. 13 (1), pp. 20677. Date of Electronic Publication: 2023 Nov 24.
Typ publikacji:
Journal Article
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Gastrointestinal Microbiome*/genetics
Humans ; Israel/epidemiology ; Mutation ; DNA Mismatch Repair
Czasopismo naukowe
Tytuł:
MTHFR C677T and A1298C polymorphism's effect on risk of colorectal cancer in Lynch syndrome.
Autorzy:
Wiik MU; Research Unit, Ålesund Hospital, Møre and Romsdal Hospital Trust, Ålesund, Norway.; Department of Medicine, Ålesund Hospital, Møre and Romsdal Hospital Trust, Ålesund, Norway.; Department of Biological Sciences, Faculty of Natural Sciences, Norwegian University of Science and Technology (NTNU), Trondheim, Norway.
Negline M; School of Biomedical Science and Pharmacy, College of Health, Medicine and Wellbeing, University of Newcastle and Hunter Medical Research Institute, Newcastle, Australia.
Beisvåg V; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, 7491, Trondheim, Norway.; St. Olav's University Hospital, Central Staff, 7006, Trondheim, Norway.
Clapham M; School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle and Hunter Medical Research Institute, Newcastle, Australia.
Holliday E; School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle and Hunter Medical Research Institute, Newcastle, Australia.
Dueñas N; Hereditary Cancer Program, Catalan Institute of Oncology, Hospitalet de Llobregat, Barcelona, Spain.; Oncobell Program, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Brunet J; Hereditary Cancer Program, Catalan Institute of Oncology, Hospitalet de Llobregat, Barcelona, Spain.; Oncobell Program, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Pineda M; Hereditary Cancer Program, Catalan Institute of Oncology, Hospitalet de Llobregat, Barcelona, Spain.; Oncobell Program, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Bonifaci N; Hereditary Cancer Program, Catalan Institute of Oncology, Hospitalet de Llobregat, Barcelona, Spain.; Oncobell Program, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Aretz S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.
Klinkhammer H; Institute for Medical Biometry, Informatics and Epidemiology, University Hospital Bonn, Bonn, Germany.; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany.
Spier I; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.
Perne C; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.
Mayr A; Institute for Medical Biometry, Informatics and Epidemiology, University Hospital Bonn, Bonn, Germany.
Valle L; Hereditary Cancer Program, Catalan Institute of Oncology, Hospitalet de Llobregat, Barcelona, Spain.; Oncobell Program, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Lubinski J; International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Sjursen W; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, 7491, Trondheim, Norway.; Department of Medical Genetics, St Olavs University Hospital, Trondheim, Norway.
Scott RJ; School of Biomedical Science and Pharmacy, College of Health, Medicine and Wellbeing, University of Newcastle and Hunter Medical Research Institute, Newcastle, Australia.; Department of Molecular Genetics, NSW Health Pathology, John Hunter Hospital, Newcastle, NSW, Australia.
Talseth-Palmer BA; Research Unit, Ålesund Hospital, Møre and Romsdal Hospital Trust, Ålesund, Norway. .; School of Biomedical Science and Pharmacy, College of Health, Medicine and Wellbeing, University of Newcastle and Hunter Medical Research Institute, Newcastle, Australia. .; NSW Health Pathology, Newcastle, NSW, Australia. .
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Źródło:
Scientific reports [Sci Rep] 2023 Nov 01; Vol. 13 (1), pp. 18783. Date of Electronic Publication: 2023 Nov 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Colorectal Neoplasms*/epidemiology
Colorectal Neoplasms*/genetics
Colorectal Neoplasms*/pathology
Humans ; Methylenetetrahydrofolate Reductase (NADPH2)/genetics ; Genotype ; Polymorphism, Single Nucleotide ; DNA ; Genetic Predisposition to Disease ; Case-Control Studies
Czasopismo naukowe
Tytuł:
Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country.
Autorzy:
Elsayed I; Biomedical Informatics Research Lab, School of Basic Medicine and Clinical Pharmacy, China Pharmaceutical University, Nanjing, China.; Cancer Genomics Research Center, School of Basic Medicine and Clinical Pharmacy, China Pharmaceutical University, Nanjing, China.; Big Data Research Institute, China Pharmaceutical University, Nanjing, 211198, China.; Department of Pharmacology, Faculty of Pharmacy, University of Gezira, P.O. Box: 20, Wad Madani, Sudan.
Geraghty R; Department of Pathology, Centre for Colorectal Disease, St. Vincent's University Hospital, Dublin 4, Ireland.
Mekki SO; Department of Histopathology, Soba University Hospital, Khartoum, Sudan.
Mohamedani AA; Department of Pathology, Faculty of Medicine, University of Gezira, P.O. Box: 20, Wad Madani, Sudan.
Ahern S; Department of Pathology, Centre for Colorectal Disease, St. Vincent's University Hospital, Dublin 4, Ireland.
Salim OEH; Department of Surgery, Soba University Hospital, Khartoum, Sudan.
Khalil BBM; Department of Histopathology, Ibn Sina Specialized Hospital, Khartoum, Sudan.
Abdelrahim S; Department of Histopathology, Soba University Hospital, Khartoum, Sudan.
Suliman SH; Department of Surgery, Soba University Hospital, Khartoum, Sudan.
Elhassan MMA; Department of Oncology, National Cancer Institute, University of Gezira, P.O. Box: 20, Wad Madani, Sudan.
Salah SO; Department of Oncology, Khartoum Oncology Hospital, Khartoum, Sudan.
Salih ME; Department of Surgery, Faculty of Medicine, University of Gezira, P.O. Box: 20, Wad Madani, Sudan.
Widatalla AH; Department of Surgery, Soba University Hospital, Khartoum, Sudan.
Abdelhamed OS; Department of Surgery, Soba University Hospital, Khartoum, Sudan.
Wang X; Biomedical Informatics Research Lab, School of Basic Medicine and Clinical Pharmacy, China Pharmaceutical University, Nanjing, China.; Cancer Genomics Research Center, School of Basic Medicine and Clinical Pharmacy, China Pharmaceutical University, Nanjing, China.; Big Data Research Institute, China Pharmaceutical University, Nanjing, 211198, China.
Ryan ÉJ; Department of Surgery, Centre for Colorectal Disease, St. Vincent's University Hospital, Dublin, Ireland.
Winter D; Department of Surgery, Centre for Colorectal Disease, St. Vincent's University Hospital, Dublin, Ireland.; School of Medicine and Medical Sciences, University College Dublin, Belfield, Dublin 4, Ireland.
Bakhiet S; Hull Royal Infirmary, Hull University Hospital NHS Trust, Hull, East Yorkshire, UK.
Sheahan K; Department of Pathology, Centre for Colorectal Disease, St. Vincent's University Hospital, Dublin 4, Ireland. .; School of Medicine and Medical Sciences, University College Dublin, Belfield, Dublin 4, Ireland. .
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Źródło:
Scientific reports [Sci Rep] 2022 Jun 29; Vol. 12 (1), pp. 10998. Date of Electronic Publication: 2022 Jun 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Colorectal Neoplasms*/diagnosis
Colorectal Neoplasms*/genetics
Colorectal Neoplasms*/pathology
Colorectal Neoplasms, Hereditary Nonpolyposis*/diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Colorectal Neoplasms, Hereditary Nonpolyposis*/pathology
DNA Mismatch Repair/genetics ; Feasibility Studies ; Humans ; Microsatellite Instability ; Proto-Oncogene Proteins B-raf/genetics ; Retrospective Studies
Czasopismo naukowe
Tytuł:
New insights on familial colorectal cancer type X syndrome.
Autorzy:
Garcia FAO; Molecular Oncology Research Center, Barretos Cancer Hospital, Antenor Duarte Villela Street, 1331, Barretos, São Paulo, CEP 14784-400, Brazil.
de Andrade ES; Molecular Oncology Research Center, Barretos Cancer Hospital, Antenor Duarte Villela Street, 1331, Barretos, São Paulo, CEP 14784-400, Brazil.
de Campos Reis Galvão H; Oncogenetics Department, Barretos Cancer Hospital, Barretos, São Paulo, Brazil.
da Silva Sábato C; Center of Molecular Diagnosis, Barretos Cancer Hospital, Barretos, São Paulo, Brazil.
Campacci N; Molecular Oncology Research Center, Barretos Cancer Hospital, Antenor Duarte Villela Street, 1331, Barretos, São Paulo, CEP 14784-400, Brazil.
de Paula AE; Center of Molecular Diagnosis, Barretos Cancer Hospital, Barretos, São Paulo, Brazil.
Evangelista AF; Molecular Oncology Research Center, Barretos Cancer Hospital, Antenor Duarte Villela Street, 1331, Barretos, São Paulo, CEP 14784-400, Brazil.
Santana IVV; Pathology Department, Barretos Cancer Hospital, Barretos, São Paulo, Brazil.
Melendez ME; Molecular Oncology Research Center, Barretos Cancer Hospital, Antenor Duarte Villela Street, 1331, Barretos, São Paulo, CEP 14784-400, Brazil.; Department of Molecular Carcinogenesis, Brazilian National Cancer Institute, Rio de Janeiro, Brazil.
Reis RM; Molecular Oncology Research Center, Barretos Cancer Hospital, Antenor Duarte Villela Street, 1331, Barretos, São Paulo, CEP 14784-400, Brazil.; Center of Molecular Diagnosis, Barretos Cancer Hospital, Barretos, São Paulo, Brazil.; Life and Health Sciences Research Institute (ICVS), Medical School, University of Minho, Braga, Portugal.; ICVS/3B's-PT Government Associate Laboratory, Braga/Guimarães, Portugal.
Palmero EI; Molecular Oncology Research Center, Barretos Cancer Hospital, Antenor Duarte Villela Street, 1331, Barretos, São Paulo, CEP 14784-400, Brazil. .; Department of Genetics, Brazilian National Cancer Institute, Rio de Janeiro, Brazil. .
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Źródło:
Scientific reports [Sci Rep] 2022 Feb 18; Vol. 12 (1), pp. 2846. Date of Electronic Publication: 2022 Feb 18.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Checkpoint Kinase 2/*genetics
Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics
DNA Glycosylases/*genetics
Endodeoxyribonucleases/*genetics
Exodeoxyribonucleases/*genetics
Multifunctional Enzymes/*genetics
Adult ; Aged ; Ataxia Telangiectasia Mutated Proteins/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/pathology ; DNA Mismatch Repair/genetics ; Female ; Genetic Predisposition to Disease ; Germ-Line Mutation/genetics ; Humans ; Male ; Middle Aged ; Oncogenes/genetics ; Phosphoproteins/genetics ; Recombinases/genetics ; Repressor Proteins/genetics ; Ubiquitin-Protein Ligases/genetics ; Exome Sequencing
Czasopismo naukowe
Tytuł:
A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants.
Autorzy:
Wiik MU; Research Unit, Ålesund Hospital, Møre and Romsdal Hospital Trust, Ålesund, Norway.
Evans TJ; Hunter Medical Research Institute, New Lambton Heights, Australia.
Belhadj S; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL and CIBERONC, Hospitalet de Llobregat, Barcelona, Spain.
Bolton KA; School of Biomedical Science and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, NSW, Australia.
Dymerska D; Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
Jagmohan-Changur S; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Capellá G; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL and CIBERONC, Hospitalet de Llobregat, Barcelona, Spain.
Kurzawski G; Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
Wijnen JT; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Valle L; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL and CIBERONC, Hospitalet de Llobregat, Barcelona, Spain.
Vasen HFA; Department of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden, the Netherlands.
Lubinski J; Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
Scott RJ; Hunter Medical Research Institute, New Lambton Heights, Australia.; School of Biomedical Science and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, NSW, Australia.; Division of Genetics, NSW Health Pathology, John Hunter Hospital, Newcastle, NSW, Australia.
Talseth-Palmer BA; Research Unit, Ålesund Hospital, Møre and Romsdal Hospital Trust, Ålesund, Norway. .; Hunter Medical Research Institute, New Lambton Heights, Australia. .; School of Biomedical Science and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, NSW, Australia. .
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Źródło:
Scientific reports [Sci Rep] 2021 May 31; Vol. 11 (1), pp. 11401. Date of Electronic Publication: 2021 May 31.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Predisposition to Disease*
Colorectal Neoplasms/*genetics
Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics
MutS Homolog 2 Protein/*genetics
RNA-Directed DNA Polymerase/*genetics
Telomerase/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Chromosomes, Human, Pair 5 ; Colorectal Neoplasms/complications ; Colorectal Neoplasms, Hereditary Nonpolyposis/complications ; Female ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Young Adult
Czasopismo naukowe
Tytuł:
Cumulative risks of colorectal cancer in Han Chinese patients with Lynch syndrome in Taiwan.
Autorzy:
Kamiza AB; School of Public Health, College of Public Health, Taipei Medical University, 250 Wu-Hsing Street, Taipei, Taiwan.
Wang WC; The Ph.D. Program for Translational Medicine, College of Medical Science and Technology, Taipei Medical University, Taipei, Taiwan.
You JF; Colorectal Section, Department of Surgery, Chang Gung Memorial Hospital, Taoyuan, Taiwan.; School of Medicine, Chang Gung University, Taoyuan, Taiwan.
Tang R; Colorectal Section, Department of Surgery, Chang Gung Memorial Hospital, Taoyuan, Taiwan.; School of Medicine, Chang Gung University, Taoyuan, Taiwan.
Chien HT; Department of Nutrition and Health Sciences, Chang Gung University of Science and Technology, Taoyuan, Taiwan.; Research Center for Chinese Herbal Medicine, College of Human Ecology, Chang Gung University of Science and Technology, Taoyuan, Taiwan.
Lai CH; Department of Public Health, College of Medicine, Chang Gung University, Taoyuan, Taiwan.
Chiu LL; Department of Nutrition and Health Sciences, Chang Gung University of Science and Technology, Taoyuan, Taiwan.
Lo TP; Institute of Population Health Sciences, National Health Research Institutes, Miaoli, Taiwan.
Hung KY; Institute of Population Health Sciences, National Health Research Institutes, Miaoli, Taiwan.
Hsiung CA; Institute of Population Health Sciences, National Health Research Institutes, Miaoli, Taiwan.
Yeh CC; School of Public Health, College of Public Health, Taipei Medical University, 250 Wu-Hsing Street, Taipei, Taiwan. .; Department of Public Health, China Medical University, Taichung, Taiwan. .; Cancer Center, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan. .; Master Program in Applied Molecular Epidemiology, College of Public Health, Taipei Medical University, Taipei, Taiwan. .
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Źródło:
Scientific reports [Sci Rep] 2021 Apr 26; Vol. 11 (1), pp. 8899. Date of Electronic Publication: 2021 Apr 26.
Typ publikacji:
Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Germ-Line Mutation*
Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics
MutL Proteins/*genetics
MutS Homolog 2 Protein/*genetics
Neoplasm Proteins/*genetics
Adult ; Age Factors ; Aged ; Asian People ; Colorectal Neoplasms, Hereditary Nonpolyposis/ethnology ; Female ; Humans ; Male ; Middle Aged ; Risk Factors ; Taiwan
Czasopismo naukowe
Tytuł:
Uptake and predictors of colonoscopy use in family members not participating in cascade genetic testing for Lynch syndrome.
Autorzy:
Hadley DW; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, MSC 3717, Bldg. 35, Room 1B205, Bethesda, MD, 20892-3717, USA. .
Eliezer D; Social Networks Methods Section, Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Addissie Y; Social Networks Methods Section, Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Goergen A; Social Networks Methods Section, Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Ashida S; Department of Community and Behavioral Health, College of Public Health, University of Iowa, Iowa City, IA, USA.
Koehly L; Social Networks Methods Section, Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
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Źródło:
Scientific reports [Sci Rep] 2020 Sep 29; Vol. 10 (1), pp. 15959. Date of Electronic Publication: 2020 Sep 29.
Typ publikacji:
Journal Article; Research Support, N.I.H., Intramural
MeSH Terms:
Colonoscopy/*trends
Colorectal Neoplasms, Hereditary Nonpolyposis/*diagnosis
Genetic Testing/*trends
Adult ; Colonic Neoplasms/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Cross-Sectional Studies ; Family ; Female ; Genetic Predisposition to Disease/genetics ; Health Knowledge, Attitudes, Practice ; Heterozygote ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Risk Factors ; United States
Czasopismo naukowe
Tytuł:
Unique genomic and neoepitope landscapes across tumors: a study across time, tissues, and space within a single lynch syndrome patient.
Autorzy:
Phung TN; School of Life Sciences, Arizona State University, Tempe, AZ, 85282, USA.; Center for Evolution and Medicine, Arizona State University, Tempe, AZ, 85282, USA.
Lenkiewicz E; Division of Hematology-Oncology, Mayo Clinic in Arizona, Scottsdale, AZ, 85259, USA.
Malasi S; Division of Hematology-Oncology, Mayo Clinic in Arizona, Scottsdale, AZ, 85259, USA.
Sharma A; The Biodesign Institute, Arizona State University, Tempe, AZ, 85282, USA.
Anderson KS; School of Life Sciences, Arizona State University, Tempe, AZ, 85282, USA.; Division of Hematology-Oncology, Mayo Clinic in Arizona, Scottsdale, AZ, 85259, USA.; The Biodesign Institute, Arizona State University, Tempe, AZ, 85282, USA.
Wilson MA; School of Life Sciences, Arizona State University, Tempe, AZ, 85282, USA.; Center for Evolution and Medicine, Arizona State University, Tempe, AZ, 85282, USA.; The Biodesign Institute, Arizona State University, Tempe, AZ, 85282, USA.
Pockaj BA; Division of General Surgery, Section of Surgical Oncology, Mayo Clinic in Arizona, Phoenix, AZ, 85054, USA.
Barrett MT; Division of Hematology-Oncology, Mayo Clinic in Arizona, Scottsdale, AZ, 85259, USA. .
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Źródło:
Scientific reports [Sci Rep] 2020 Jul 22; Vol. 10 (1), pp. 12190. Date of Electronic Publication: 2020 Jul 22.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Biomarkers, Tumor/*genetics
Colorectal Neoplasms, Hereditary Nonpolyposis/*pathology
Epitopes/*metabolism
Biomarkers, Tumor/metabolism ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; DNA-Binding Proteins/genetics ; Duodenal Neoplasms/pathology ; Epitopes/immunology ; Female ; Germ-Line Mutation ; Humans ; Microsatellite Instability ; Middle Aged ; MutS Homolog 2 Protein/genetics ; Ploidies ; Polymorphism, Single Nucleotide ; Triple Negative Breast Neoplasms/pathology ; Uterine Neoplasms/pathology
Czasopismo naukowe
Tytuł:
NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.
Autorzy:
Belhadj S; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain.
Quintana I; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain.
Mur P; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Munoz-Torres PM; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain.
Alonso MH; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain.; Unit of Biomarkers and Susceptibility, Cancer Prevention and Control Program, Catalan Institute of Oncology, IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Epidemiologia y Salud Pública (CIBERESP), Madrid, Spain.; Department of Clinical Sciences, Faculty of Medicine, University of Barcelona, Barcelona, Spain.
Navarro M; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Terradas M; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain.
Piñol V; Gastroenterology Unit, Hospital Universitario de Girona Dr Josep Trueta, 17007, Girona, Spain.; School of Medicine, University of Girona, 17071, Girona, Spain.
Brunet J; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBGi, 17007, Girona, Spain.
Moreno V; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain.; Unit of Biomarkers and Susceptibility, Cancer Prevention and Control Program, Catalan Institute of Oncology, IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Epidemiologia y Salud Pública (CIBERESP), Madrid, Spain.; Department of Clinical Sciences, Faculty of Medicine, University of Barcelona, Barcelona, Spain.
Lázaro C; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Capellá G; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Valle L; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain. .; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08908 Hospitalet de Llobregat, Barcelona, Spain. .; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. .
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Źródło:
Scientific reports [Sci Rep] 2019 Jun 21; Vol. 9 (1), pp. 9020. Date of Electronic Publication: 2019 Jun 21.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Adenoma/*genetics
Adenomatous Polyposis Coli/*genetics
Colorectal Neoplasms/*genetics
Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics
Deoxyribonuclease (Pyrimidine Dimer)/*genetics
Genetic Predisposition to Disease/*genetics
Adenoma/diagnosis ; Adenomatous Polyposis Coli/diagnosis ; Adult ; Aged ; Aged, 80 and over ; Alleles ; Colorectal Neoplasms/diagnosis ; Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis ; Female ; Genetic Testing/methods ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype
Czasopismo naukowe
Tytuł:
A cancer vaccine approach for personalized treatment of Lynch Syndrome.
Autorzy:
Majumder S; MedGenome Labs Ltd., Bangalore, India.
Shah R; KCHRC, Muni Seva Ashram, Goraj, Gujarat, India.
Elias J; MedGenome Labs Ltd., Bangalore, India.; KCHRC, Muni Seva Ashram, Goraj, Gujarat, India.
Manoharan M; MedGenome Labs Ltd., Bangalore, India.
Shah P; MedGenome Labs Ltd., Bangalore, India.
Kumari A; MedGenome Labs Ltd., Bangalore, India.
Chakraborty P; MedGenome Inc, Foster City, CA, USA.
Kode V; MedGenome Inc, Foster City, CA, USA.
Mistry Y; KCHRC, Muni Seva Ashram, Goraj, Gujarat, India.
Coral K; MedGenome Labs Ltd., Bangalore, India.
Mittal B; MedGenome Labs Ltd., Bangalore, India.
Sm SM; MedGenome Labs Ltd., Bangalore, India.
Mahadevan L; MedGenome Labs Ltd., Bangalore, India.
Gupta R; MedGenome Labs Ltd., Bangalore, India.
Chaudhuri A; MedGenome Labs Ltd., Bangalore, India. .; MedGenome Inc, Foster City, CA, USA. .
Khanna-Gupta A; MedGenome Labs Ltd., Bangalore, India. .
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Źródło:
Scientific reports [Sci Rep] 2018 Aug 14; Vol. 8 (1), pp. 12122. Date of Electronic Publication: 2018 Aug 14.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Antigens, Neoplasm/*immunology
Cancer Vaccines/*administration & dosage
Colorectal Neoplasms, Hereditary Nonpolyposis/*therapy
MutL Protein Homolog 1/*immunology
Neoplasm Recurrence, Local/*therapy
Adult ; Aged ; Aged, 80 and over ; Antigens, Neoplasm/genetics ; CD8-Positive T-Lymphocytes/immunology ; Cancer Vaccines/immunology ; Child ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/immunology ; Colorectal Neoplasms, Hereditary Nonpolyposis/pathology ; DNA Mutational Analysis ; Epitopes, T-Lymphocyte/genetics ; Epitopes, T-Lymphocyte/immunology ; Frameshift Mutation/immunology ; Germ-Line Mutation/immunology ; Humans ; Immune Evasion/immunology ; Immunogenicity, Vaccine ; Middle Aged ; MutL Protein Homolog 1/genetics ; Neoplasm Recurrence, Local/genetics ; Neoplasm Recurrence, Local/immunology ; Precision Medicine/methods ; Sequence Analysis, RNA ; Vaccines, Subunit/administration & dosage ; Vaccines, Subunit/immunology ; Exome Sequencing ; Young Adult
Czasopismo naukowe
Tytuł:
Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.
Autorzy:
Choi YY; Department of Surgery, CHA University School of Medicine, Pocheon-si, Korea.; Department of Surgery, Yonsei University Health System, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu,, Seoul, 120-752, Korea.; Yonsei Biomedical Research Institute, Yonsei University Health System, Yonsei University College of Medicine, Seoul, Korea.
Shin SJ; Department of Pathology, Yonsei University Health System, Yonsei University College of Medicine, Seoul, Korea.
Lee JE; Yonsei Biomedical Research Institute, Yonsei University Health System, Yonsei University College of Medicine, Seoul, Korea.
Madlensky L; Moores Cancer Center and Division of Biomedical Informatics Department of Medicine, University of California San Diego School of Medicine, 3855 Health Sciences Dr, La Jolla, CA, 92037, USA.; Department of Family Medicine and Public Health, University of California San Diego School of Medicine, San Diego, CA, USA.
Lee ST; Hereditary Cancer Clinic, Yonsei University Health System, Yonsei University College of Medicine, Seoul, Korea.; Department of Laboratory Medicine, Yonsei University Health System, Yonsei University College of Medicine, Seoul, Korea.
Park JS; Hereditary Cancer Clinic, Yonsei University Health System, Yonsei University College of Medicine, Seoul, Korea.; Department of Medicine, Yonsei University Health System, Yonsei University College of Medicine, Seoul, Korea.
Jo JH; Department of Pathology, Yonsei University Health System, Yonsei University College of Medicine, Seoul, Korea.
Kim H; Department of Pathology, Yonsei University Health System, Yonsei University College of Medicine, Seoul, Korea.
Nachmanson D; Bioinformatics and Systems Biology Graduate Program, University of California San Diego School of Medicine, San Diego, USA.
Xu X; Moores Cancer Center and Division of Biomedical Informatics Department of Medicine, University of California San Diego School of Medicine, 3855 Health Sciences Dr, La Jolla, CA, 92037, USA.
Noh SH; Department of Surgery, Yonsei University Health System, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu,, Seoul, 120-752, Korea.
Cheong JH; Department of Surgery, Yonsei University Health System, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu,, Seoul, 120-752, Korea. .; Yonsei Biomedical Research Institute, Yonsei University Health System, Yonsei University College of Medicine, Seoul, Korea. .
Harismendy O; Moores Cancer Center and Division of Biomedical Informatics Department of Medicine, University of California San Diego School of Medicine, 3855 Health Sciences Dr, La Jolla, CA, 92037, USA. .; Department of Medicine, University of California San Diego School of Medicine, San Diego, CA, USA. .
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Źródło:
Scientific reports [Sci Rep] 2021 Jul 20; Vol. 11 (1), pp. 14807. Date of Electronic Publication: 2021 Jul 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Biomarkers, Tumor/*genetics
Colorectal Neoplasms/*genetics
Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics
Endometrial Neoplasms/*genetics
Stomach Neoplasms/*genetics
Adult ; Age of Onset ; Aged ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Loss of Function Mutation ; Male ; Microsatellite Instability ; Middle Aged ; Prevalence ; Retrospective Studies ; Exome Sequencing
Czasopismo naukowe
Tytuł:
Evaluation of 3 molecular-based assays for microsatellite instability detection in formalin-fixed tissues of patients with endometrial and colorectal cancers.
Autorzy:
Gilson P; Service de Biologie Moléculaire des Tumeurs, Institut de Cancérologie de Lorraine, CNRS UMR 7039 CRAN-Université de Lorraine, 6 avenue de Bourgogne CS 30519, 54519, Vandœuvre-lès-Nancy Cedex, France. .
Levy J; Département de Biopathologie, Institut de Cancérologie de Lorraine, 6 avenue de Bourgogne CS 30519, 54519, Vandœuvre-lès-Nancy Cedex, France.
Rouyer M; Département de Biopathologie, Institut de Cancérologie de Lorraine, 6 avenue de Bourgogne CS 30519, 54519, Vandœuvre-lès-Nancy Cedex, France.
Demange J; Département de Biopathologie, Institut de Cancérologie de Lorraine, 6 avenue de Bourgogne CS 30519, 54519, Vandœuvre-lès-Nancy Cedex, France.
Husson M; Département de Biopathologie, Institut de Cancérologie de Lorraine, 6 avenue de Bourgogne CS 30519, 54519, Vandœuvre-lès-Nancy Cedex, France.
Bonnet C; Genetics Laboratory, CHRU Nancy, rue du Morvan, 54511, Vandœuvre-lès-Nancy, France.
Salleron J; Department of Biostatistics and Data Management, Institut de Cancérologie de Lorraine, 6 avenue de Bourgogne CS 30519, 54519, Vandœuvre-lès-Nancy Cedex, France.
Leroux A; Département de Biopathologie, Institut de Cancérologie de Lorraine, 6 avenue de Bourgogne CS 30519, 54519, Vandœuvre-lès-Nancy Cedex, France.
Merlin JL; Service de Biologie Moléculaire des Tumeurs, Institut de Cancérologie de Lorraine, CNRS UMR 7039 CRAN-Université de Lorraine, 6 avenue de Bourgogne CS 30519, 54519, Vandœuvre-lès-Nancy Cedex, France.
Harlé A; Service de Biologie Moléculaire des Tumeurs, Institut de Cancérologie de Lorraine, CNRS UMR 7039 CRAN-Université de Lorraine, 6 avenue de Bourgogne CS 30519, 54519, Vandœuvre-lès-Nancy Cedex, France.
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Źródło:
Scientific reports [Sci Rep] 2020 Oct 02; Vol. 10 (1), pp. 16386. Date of Electronic Publication: 2020 Oct 02.
Typ publikacji:
Journal Article
MeSH Terms:
Colorectal Neoplasms/*genetics
Colorectal Neoplasms/*pathology
Endometrial Neoplasms/*genetics
Endometrial Neoplasms/*pathology
Biomarkers, Tumor/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/pathology ; DNA Mismatch Repair/genetics ; Female ; Formaldehyde/chemistry ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Immunohistochemistry/methods ; Microsatellite Instability ; Patients ; Polymerase Chain Reaction/methods ; Prognosis ; Sensitivity and Specificity ; Tissue Fixation/methods
Czasopismo naukowe
Tytuł:
Microsatellite Instability assessment in Black South African Colorectal Cancer patients reveal an increased incidence of suspected Lynch syndrome.
Autorzy:
McCabe M; Department of Anatomical Pathology, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Parktown, Johannesburg, 2193, South Africa. .
Perner Y
Magobo R; Department of Anatomical Pathology, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Parktown, Johannesburg, 2193, South Africa.
Magangane P; Department of Anatomical Pathology, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Parktown, Johannesburg, 2193, South Africa.
Mirza S; Department of Internal Medicine, Faculty of Health Sciences, University of the Witwatersrand, Parktown, Johannesburg, 2193, South Africa.
Penny C; Department of Internal Medicine, Faculty of Health Sciences, University of the Witwatersrand, Parktown, Johannesburg, 2193, South Africa.
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Źródło:
Scientific reports [Sci Rep] 2019 Oct 21; Vol. 9 (1), pp. 15019. Date of Electronic Publication: 2019 Oct 21.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Microsatellite Instability*
Black People/*genetics
Colorectal Neoplasms/*genetics
Colorectal Neoplasms, Hereditary Nonpolyposis/*epidemiology
Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics
Colorectal Neoplasms/diagnosis ; Colorectal Neoplasms/pathology ; Female ; Geography ; Humans ; Incidence ; Logistic Models ; Male ; Middle Aged ; South Africa
Czasopismo naukowe
Tytuł:
Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome.
Autorzy:
Bellido F; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, L'Hospitalet de Llobregat, Spain.
Guinó E
Jagmohan-Changur S
Seguí N
Pineda M
Navarro M
Lázaro C
Blanco I
Vasen HF
Moreno V
Capellá G
Wijnen JT
Valle L
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2013 May; Vol. 21 (5), pp. 511-6. Date of Electronic Publication: 2012 Sep 05.
Typ publikacji:
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics
Genetic Predisposition to Disease/*genetics
Polymorphism, Single Nucleotide/*genetics
Telomerase/*genetics
Adult ; Age Factors ; Binding Sites/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/pathology ; Computational Biology ; Female ; Genotype ; Humans ; Male ; Middle Aged ; Netherlands ; Retinoid X Receptor alpha/genetics ; Risk Factors ; Spain ; Telomere/genetics
Czasopismo naukowe
Tytuł:
A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.
Autorzy:
Borelli I; Department of Genetics, Biology and Biochemistry, University of Turin, Via Santena 19, Turin, Italy. />Barberis MA
Spina F
Casalis Cavalchini GC
Vivanet C
Balestrino L
Micheletti M
Allavena A
Sala P
Carcassi C
Pasini B
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Feb; Vol. 21 (2), pp. 154-61. Date of Electronic Publication: 2012 Jul 11.
Typ publikacji:
Journal Article
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis*/diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
DNA Mismatch Repair/*genetics
MutS Homolog 2 Protein/*genetics
Sequence Deletion/*genetics
Exons ; Founder Effect ; Genetic Testing ; Germ-Line Mutation ; Haplotypes ; Humans ; Italy ; Pedigree
Czasopismo naukowe
Tytuł:
Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications.
Autorzy:
Lynch HT; Department of Preventive Medicine, Creighton University School of Medicine, 2500 California Plaza, Omaha, NE 68178, USA. />Boland CR
Gong G
Shaw TG
Lynch PM
Fodde R
Lynch JF
de la Chapelle A
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2006 Apr; Vol. 14 (4), pp. 390-402.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Genetic Heterogeneity*
Phenotype*
Colorectal Neoplasms, Hereditary Nonpolyposis/*diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis/*therapy
Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/physiopathology ; Genotype ; Humans ; Pedigree
Czasopismo naukowe
Tytuł:
MLH1 methylation screening is effective in identifying epimutation carriers.
Autorzy:
Pineda M; Hereditary Cancer Program, Catalan Institute of Oncology, ICO-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.
Mur P
Iniesta MD
Borràs E
Campos O
Vargas G
Iglesias S
Fernández A
Gruber SB
Lázaro C
Brunet J
Navarro M
Blanco I
Capellá G
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2012 Dec; Vol. 20 (12), pp. 1256-64. Date of Electronic Publication: 2012 Jul 04.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Methylation*
Genetic Carrier Screening*
Heterozygote*
Adaptor Proteins, Signal Transducing/*genetics
Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics
Nuclear Proteins/*genetics
Adult ; Aged ; Aged, 80 and over ; Alleles ; Carrier Proteins/genetics ; Carrier Proteins/metabolism ; Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis ; Epigenesis, Genetic ; Female ; Gene Silencing ; Germ-Line Mutation ; Haplotypes ; Humans ; Male ; Middle Aged ; MutL Protein Homolog 1 ; Organ Specificity ; Pedigree ; Polymorphism, Genetic ; Sequence Analysis, DNA ; Transcription, Genetic
Czasopismo naukowe

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