Lancet Oncology, The, ISSN 1470-2045, 2011, Volume 12, Issue 1, pp. 49 - 55
Summary Background Lynch syndrome is caused by germline mutations in MSH2, MLH1, MSH6 , and PMS2 mismatch-repair genes and leads to a high risk of colorectal...
Hematology, Oncology and Palliative Medicine | STEM-CELLS | METHYLATION | HYPERMETHYLATION | MANAGEMENT | MSH2 | ONCOLOGY | REPAIR GENE HMSH2 | MUTATION CARRIERS | FAMILIES | SURVEILLANCE | TACSTD1 | Antigens, Neoplasm - genetics | Promoter Regions, Genetic | Sequence Deletion | Cell Adhesion Molecules - genetics | Colorectal Neoplasms - genetics | Humans | Middle Aged | Endometrial Neoplasms - etiology | Male | Risk | MutS Homolog 2 Protein - genetics | Epithelial Cell Adhesion Molecule | Colorectal Neoplasms - etiology | Endometrial Neoplasms - genetics | Gene Deletion | Adolescent | Adult | Female | Aged | Cohort Studies | Prevention | Molecular genetics | Endometrial cancer | Gene mutations | Oncology, Experimental | Research | Universities and colleges | Biometry | Cancer
Hematology, Oncology and Palliative Medicine | STEM-CELLS | METHYLATION | HYPERMETHYLATION | MANAGEMENT | MSH2 | ONCOLOGY | REPAIR GENE HMSH2 | MUTATION CARRIERS | FAMILIES | SURVEILLANCE | TACSTD1 | Antigens, Neoplasm - genetics | Promoter Regions, Genetic | Sequence Deletion | Cell Adhesion Molecules - genetics | Colorectal Neoplasms - genetics | Humans | Middle Aged | Endometrial Neoplasms - etiology | Male | Risk | MutS Homolog 2 Protein - genetics | Epithelial Cell Adhesion Molecule | Colorectal Neoplasms - etiology | Endometrial Neoplasms - genetics | Gene Deletion | Adolescent | Adult | Female | Aged | Cohort Studies | Prevention | Molecular genetics | Endometrial cancer | Gene mutations | Oncology, Experimental | Research | Universities and colleges | Biometry | Cancer
Journal Article
Clinical Cancer Research, ISSN 1078-0432, 05/2012, Volume 18, Issue 10, pp. 2828 - 2837
textabstractPurpose: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest-derived neoplasms. Recently we identified...
GENE-MUTATIONS | SUCCINATE-DEHYDROGENASE | GERM-LINE MUTATIONS | ONCOLOGY | DNA | LINDAU DISEASE | SUSCEPTIBILITY | SDHB | FAMILIAL PHEOCHROMOCYTOMA | Genetic Predisposition to Disease | Paraganglioma - genetics | Humans | Middle Aged | Child, Preschool | Male | Young Adult | Adolescent | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics | Aged, 80 and over | Germ-Line Mutation | Adult | Female | Pheochromocytoma - genetics | Aged | Adrenal Gland Neoplasms - genetics | Child | Pheochromocytoma | Paraganglioma | Life Sciences | Human health and pathology | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors | Adrenal Gland Neoplasms
GENE-MUTATIONS | SUCCINATE-DEHYDROGENASE | GERM-LINE MUTATIONS | ONCOLOGY | DNA | LINDAU DISEASE | SUSCEPTIBILITY | SDHB | FAMILIAL PHEOCHROMOCYTOMA | Genetic Predisposition to Disease | Paraganglioma - genetics | Humans | Middle Aged | Child, Preschool | Male | Young Adult | Adolescent | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics | Aged, 80 and over | Germ-Line Mutation | Adult | Female | Pheochromocytoma - genetics | Aged | Adrenal Gland Neoplasms - genetics | Child | Pheochromocytoma | Paraganglioma | Life Sciences | Human health and pathology | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors | Adrenal Gland Neoplasms
Journal Article
Human mutation, ISSN 1059-7794, 2016, Volume 37, Issue 11, pp. 1162 - 1179
Monoallelic PMS2 germline mutations cause 5%-15% of Lynch syndrome, a midlife cancer predisposition, whereas biallelic PMS2 mutations cause approximately 60%...
CMMRD | PMS2 | pseudogenes | mismatch repair | immunohistochemistry | MLH1 | missense variants | Lynch syndrome | PROMOTER HYPERMETHYLATION | CFR PARTICIPANTS | EUROPEAN CONSORTIUM CARE | PSEUDOGENE INTERFERENCE | NONPOLYPOSIS COLON-CANCER | GENE | COLORECTAL-CANCER | GENETICS & HEREDITY | 3' DELETIONS | SYNDROME FAMILIES | Genetic Predisposition to Disease | Microsatellite Instability | Colorectal Neoplasms - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Humans | Brain Neoplasms - genetics | Neoplastic Syndromes, Hereditary - metabolism | DNA Mutational Analysis - methods | Brain Neoplasms - metabolism | Genetic Variation | Colorectal Neoplasms, Hereditary Nonpolyposis - metabolism | Netherlands | Mismatch Repair Endonuclease PMS2 - metabolism | Germ-Line Mutation | Neoplastic Syndromes, Hereditary - genetics | Mismatch Repair Endonuclease PMS2 - genetics | Colorectal Neoplasms - metabolism | Cohort Studies | Immunohistochemistry | Genetic research | Genetic aspects | RNA | Gene mutations | Analysis | Yeast | Genetic disorders | Mutation | Genetic recombination | Cancer
CMMRD | PMS2 | pseudogenes | mismatch repair | immunohistochemistry | MLH1 | missense variants | Lynch syndrome | PROMOTER HYPERMETHYLATION | CFR PARTICIPANTS | EUROPEAN CONSORTIUM CARE | PSEUDOGENE INTERFERENCE | NONPOLYPOSIS COLON-CANCER | GENE | COLORECTAL-CANCER | GENETICS & HEREDITY | 3' DELETIONS | SYNDROME FAMILIES | Genetic Predisposition to Disease | Microsatellite Instability | Colorectal Neoplasms - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Humans | Brain Neoplasms - genetics | Neoplastic Syndromes, Hereditary - metabolism | DNA Mutational Analysis - methods | Brain Neoplasms - metabolism | Genetic Variation | Colorectal Neoplasms, Hereditary Nonpolyposis - metabolism | Netherlands | Mismatch Repair Endonuclease PMS2 - metabolism | Germ-Line Mutation | Neoplastic Syndromes, Hereditary - genetics | Mismatch Repair Endonuclease PMS2 - genetics | Colorectal Neoplasms - metabolism | Cohort Studies | Immunohistochemistry | Genetic research | Genetic aspects | RNA | Gene mutations | Analysis | Yeast | Genetic disorders | Mutation | Genetic recombination | Cancer
Journal Article
Journal of Clinical Oncology, ISSN 0732-183X, 2018, Volume 36, Issue 29, pp. 2961 - 2968
PurposeLynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal and...
VARIANTS | ONCOLOGY | NONPOLYPOSIS COLORECTAL-CANCER | GENES | HEREDITARY BREAST | MUTATIONS | PREVALENCE | FAMILY-HISTORY | MLH1 | CARRIERS | ENDOMETRIAL CANCER | ORIGINAL REPORTS
VARIANTS | ONCOLOGY | NONPOLYPOSIS COLORECTAL-CANCER | GENES | HEREDITARY BREAST | MUTATIONS | PREVALENCE | FAMILY-HISTORY | MLH1 | CARRIERS | ENDOMETRIAL CANCER | ORIGINAL REPORTS
Journal Article
Human mutation, ISSN 1059-7794, 2011, Volume 32, Issue 4, pp. 407 - 414
Recently, we identified 3' end deletions in the EPCAM gene as a novel cause of Lynch syndrome. These truncating EPCAM deletions cause allele-specific...
TACSTD1 | NAHR | Alu‐mediated recombination | EPCAM | Lynch syndrome | Alu-mediated recombination | MOLECULAR CHARACTERIZATION | METHYLATION | HYPERMETHYLATION | NONPOLYPOSIS COLORECTAL-CANCER | GENOMIC DELETIONS | MLH1 | MSH2 | FREQUENT CAUSE | GENETICS & HEREDITY | MISMATCH-REPAIR GENES | EPIMUTATION | Antigens, Neoplasm - genetics | Promoter Regions, Genetic | Recurrence | Cell Adhesion Molecules - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Molecular Sequence Data | MutS Homolog 2 Protein - genetics | Germ-Line Mutation - genetics | MutS Homolog 2 Protein - metabolism | Cell Adhesion Molecules - metabolism | Epithelial Cell Adhesion Molecule | Genetic Variation | DNA Methylation | Netherlands | Base Sequence | Antigens, Neoplasm - metabolism | Models, Genetic | Sequence Deletion - genetics
TACSTD1 | NAHR | Alu‐mediated recombination | EPCAM | Lynch syndrome | Alu-mediated recombination | MOLECULAR CHARACTERIZATION | METHYLATION | HYPERMETHYLATION | NONPOLYPOSIS COLORECTAL-CANCER | GENOMIC DELETIONS | MLH1 | MSH2 | FREQUENT CAUSE | GENETICS & HEREDITY | MISMATCH-REPAIR GENES | EPIMUTATION | Antigens, Neoplasm - genetics | Promoter Regions, Genetic | Recurrence | Cell Adhesion Molecules - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Molecular Sequence Data | MutS Homolog 2 Protein - genetics | Germ-Line Mutation - genetics | MutS Homolog 2 Protein - metabolism | Cell Adhesion Molecules - metabolism | Epithelial Cell Adhesion Molecule | Genetic Variation | DNA Methylation | Netherlands | Base Sequence | Antigens, Neoplasm - metabolism | Models, Genetic | Sequence Deletion - genetics
Journal Article
Journal of clinical oncology, ISSN 0732-183X, 2018, Volume 36, Issue 29, pp. 2961 - 2968
Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial...
Journal Article
Journal of clinical endocrinology and metabolism, ISSN 0021-972X, 2017, Volume 102, Issue 12, pp. 4534 - 4540
Context: Heterozygous pathogenic germline variants in CDC73 predispose to the development of primary hyperparathyroidism (pHPT) and, less frequently, ossifying...
PARATHYROID CARCINOMA | HRPT2 GENE | GERMLINE | MANAGEMENT | FAMILIAL ISOLATED HYPERPARATHYROIDISM | JAW TUMOR SYNDROME | ENDOCRINOLOGY & METABOLISM | PARAFIBROMIN | MUTATIONS | GENETIC ANALYSES | CANCER | Parathyroid Neoplasms - pathology | Humans | Middle Aged | Male | Hyperparathyroidism, Primary - genetics | Jaw Neoplasms - pathology | Young Adult | Hyperparathyroidism, Primary - physiopathology | Netherlands | Tumor Suppressor Proteins - genetics | Hyperparathyroidism, Primary - pathology | Aged, 80 and over | Germ-Line Mutation | Adult | Female | Retrospective Studies | Child | Penetrance | Mutation - genetics | Parathyroid Neoplasms - genetics | Adolescent | Heterozygote | Aged | Jaw Neoplasms - genetics | Cohort Studies | Jaw | Disorders | Histology | Adenoma | Patients | Genetic screening | Carriers | Confidence intervals | Genetic counseling | Uterus | Genetics | Mutation | Parathyroid | Hyperparathyroidism | Tumors
PARATHYROID CARCINOMA | HRPT2 GENE | GERMLINE | MANAGEMENT | FAMILIAL ISOLATED HYPERPARATHYROIDISM | JAW TUMOR SYNDROME | ENDOCRINOLOGY & METABOLISM | PARAFIBROMIN | MUTATIONS | GENETIC ANALYSES | CANCER | Parathyroid Neoplasms - pathology | Humans | Middle Aged | Male | Hyperparathyroidism, Primary - genetics | Jaw Neoplasms - pathology | Young Adult | Hyperparathyroidism, Primary - physiopathology | Netherlands | Tumor Suppressor Proteins - genetics | Hyperparathyroidism, Primary - pathology | Aged, 80 and over | Germ-Line Mutation | Adult | Female | Retrospective Studies | Child | Penetrance | Mutation - genetics | Parathyroid Neoplasms - genetics | Adolescent | Heterozygote | Aged | Jaw Neoplasms - genetics | Cohort Studies | Jaw | Disorders | Histology | Adenoma | Patients | Genetic screening | Carriers | Confidence intervals | Genetic counseling | Uterus | Genetics | Mutation | Parathyroid | Hyperparathyroidism | Tumors
Journal Article
8.
Full Text
Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study
Journal of Clinical Endocrinology and Metabolism, ISSN 0021-972X, 2018, Volume 103, Issue 2, pp. 438 - 445
Context: Paraganglioma (PGL) has the highest degree of heritability among human neoplasms. Current clinical understanding of germline SDHA mutation carriers is...
HEAD | MUTATIONS | SOCIETY | GENES | ENDOCRINOLOGY & METABOLISM | Humans | Middle Aged | Netherlands - epidemiology | Male | Young Adult | Adrenal Gland Neoplasms - epidemiology | DNA Mutational Analysis | Aged, 80 and over | Germ-Line Mutation | Pheochromocytoma - pathology | Adult | Female | Paraganglioma - epidemiology | Retrospective Studies | Child | Adrenal Gland Neoplasms - pathology | Pheochromocytoma - epidemiology | Genetic Predisposition to Disease | Paraganglioma - pathology | Electron Transport Complex II - genetics | Paraganglioma - genetics | Penetrance | Adolescent | Pheochromocytoma - genetics | Aged | Adrenal Gland Neoplasms - genetics | Head | Pheochromocytoma | Genes | Paraganglioma | Patients | Genetic screening | Neoplasms | Confidence intervals | Clinical aspects | Genetic counseling | Head and neck | Hormone replacement therapy | Heritability | Mutation | Age
HEAD | MUTATIONS | SOCIETY | GENES | ENDOCRINOLOGY & METABOLISM | Humans | Middle Aged | Netherlands - epidemiology | Male | Young Adult | Adrenal Gland Neoplasms - epidemiology | DNA Mutational Analysis | Aged, 80 and over | Germ-Line Mutation | Pheochromocytoma - pathology | Adult | Female | Paraganglioma - epidemiology | Retrospective Studies | Child | Adrenal Gland Neoplasms - pathology | Pheochromocytoma - epidemiology | Genetic Predisposition to Disease | Paraganglioma - pathology | Electron Transport Complex II - genetics | Paraganglioma - genetics | Penetrance | Adolescent | Pheochromocytoma - genetics | Aged | Adrenal Gland Neoplasms - genetics | Head | Pheochromocytoma | Genes | Paraganglioma | Patients | Genetic screening | Neoplasms | Confidence intervals | Clinical aspects | Genetic counseling | Head and neck | Hormone replacement therapy | Heritability | Mutation | Age
Journal Article
CA: A Cancer Journal for Clinicians, ISSN 0007-9235, 07/2006, Volume 56, Issue 4, pp. 213 - 225
The patient with a family history for colorectal carcinoma constitutes a complicated diagnostic challenge involving many clinicians. The diagnostic workup of...
COLON-CANCER | SOMATIC G-C->T-A MUTATIONS | ONCOLOGY | MICROSATELLITE INSTABILITY | MISMATCH REPAIR GENES | MSH6 GERMLINE MUTATIONS | REPLICATION ERRORS | JUVENILE POLYPOSIS SYNDROME | FAMILY-HISTORY | ADENOMATOUS POLYPOSIS | MOLECULAR ANALYSIS | Medical History Taking | Genetic Predisposition to Disease - genetics | Phenotype | Risk Assessment | Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis | Pedigree | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Humans | Mutation | Genes, Recessive | Genetic Counseling | Care and treatment | Diagnosis | Gene mutations | Analysis | Colorectal cancer | Heredity | Disease management | Medical diagnosis
COLON-CANCER | SOMATIC G-C->T-A MUTATIONS | ONCOLOGY | MICROSATELLITE INSTABILITY | MISMATCH REPAIR GENES | MSH6 GERMLINE MUTATIONS | REPLICATION ERRORS | JUVENILE POLYPOSIS SYNDROME | FAMILY-HISTORY | ADENOMATOUS POLYPOSIS | MOLECULAR ANALYSIS | Medical History Taking | Genetic Predisposition to Disease - genetics | Phenotype | Risk Assessment | Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis | Pedigree | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Humans | Mutation | Genes, Recessive | Genetic Counseling | Care and treatment | Diagnosis | Gene mutations | Analysis | Colorectal cancer | Heredity | Disease management | Medical diagnosis
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 08/2017, Volume 177, Issue 2, pp. 115 - 125
Objective: Succinate dehydrogenase B subunit (SDHB) gene germline mutations predispose to pheochromocytomas, sympathetic paragangliomas, head and neck...
PARAGANGLIOMA | CLINICAL-MANIFESTATIONS | PHEOCHROMOCYTOMA | NETHERLANDS | GENETICS | ENDOCRINOLOGY & METABOLISM | Follow-Up Studies | Humans | Middle Aged | Netherlands - epidemiology | Male | Paraganglioma - diagnosis | Germ-Line Mutation - genetics | Adrenal Gland Neoplasms - diagnosis | Young Adult | Adrenal Gland Neoplasms - epidemiology | Head and Neck Neoplasms - epidemiology | Adult | Female | Paraganglioma - epidemiology | Retrospective Studies | Child | Pheochromocytoma - epidemiology | Paraganglioma - genetics | Pheochromocytoma - diagnosis | Phenotype | Succinate Dehydrogenase - genetics | Adolescent | Head and Neck Neoplasms - diagnosis | Head and Neck Neoplasms - genetics | Heterozygote | Pheochromocytoma - genetics | Aged | Adrenal Gland Neoplasms - genetics | Cohort Studies
PARAGANGLIOMA | CLINICAL-MANIFESTATIONS | PHEOCHROMOCYTOMA | NETHERLANDS | GENETICS | ENDOCRINOLOGY & METABOLISM | Follow-Up Studies | Humans | Middle Aged | Netherlands - epidemiology | Male | Paraganglioma - diagnosis | Germ-Line Mutation - genetics | Adrenal Gland Neoplasms - diagnosis | Young Adult | Adrenal Gland Neoplasms - epidemiology | Head and Neck Neoplasms - epidemiology | Adult | Female | Paraganglioma - epidemiology | Retrospective Studies | Child | Pheochromocytoma - epidemiology | Paraganglioma - genetics | Pheochromocytoma - diagnosis | Phenotype | Succinate Dehydrogenase - genetics | Adolescent | Head and Neck Neoplasms - diagnosis | Head and Neck Neoplasms - genetics | Heterozygote | Pheochromocytoma - genetics | Aged | Adrenal Gland Neoplasms - genetics | Cohort Studies
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2016, Volume 11, Issue 6, p. e0157381
textabstractBackground and Aims Lynch Syndrome (LS) is caused by pathogenic germline variants in one of the mismatch repair (MMR) genes. However, up to 60% of...
MISMATCH-REPAIR DEFICIENCY | SOMATIC METHYLATION | GERMLINE MUTATION | NONPOLYPOSIS COLORECTAL-CANCER | MLH1 PROMOTER METHYLATION | MICROSATELLITE INSTABILITY | MUTATION CARRIERS | FREQUENT CAUSE | MULTIDISCIPLINARY SCIENCES | PROSTATE-CANCER | REVISED BETHESDA GUIDELINES | Leukocytes - pathology | Colon - pathology | Rectum - pathology | Colorectal Neoplasms - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - pathology | Humans | Middle Aged | Rectum - metabolism | Gene Expression Regulation, Neoplastic | Colon - metabolism | DNA Methylation | DNA Mismatch Repair | MutL Protein Homolog 1 - genetics | Germ-Line Mutation | Colorectal Neoplasms - pathology | Leukocytes - metabolism | Cohort Studies | Nucleotide sequence | MLH1 protein | Physicians | Genes | Genomics | Colorectal carcinoma | Colorectal cancer | Regulatory sequences | Family medical history | Gene expression | Patients | Gene sequencing | White blood cells | Pathology | Fertility | Mismatch repair | Gastroenterology | Genetics | Mutation | Deoxyribonucleic acid--DNA | Tumors | Deoxyribonucleic acid | DNA
MISMATCH-REPAIR DEFICIENCY | SOMATIC METHYLATION | GERMLINE MUTATION | NONPOLYPOSIS COLORECTAL-CANCER | MLH1 PROMOTER METHYLATION | MICROSATELLITE INSTABILITY | MUTATION CARRIERS | FREQUENT CAUSE | MULTIDISCIPLINARY SCIENCES | PROSTATE-CANCER | REVISED BETHESDA GUIDELINES | Leukocytes - pathology | Colon - pathology | Rectum - pathology | Colorectal Neoplasms - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - pathology | Humans | Middle Aged | Rectum - metabolism | Gene Expression Regulation, Neoplastic | Colon - metabolism | DNA Methylation | DNA Mismatch Repair | MutL Protein Homolog 1 - genetics | Germ-Line Mutation | Colorectal Neoplasms - pathology | Leukocytes - metabolism | Cohort Studies | Nucleotide sequence | MLH1 protein | Physicians | Genes | Genomics | Colorectal carcinoma | Colorectal cancer | Regulatory sequences | Family medical history | Gene expression | Patients | Gene sequencing | White blood cells | Pathology | Fertility | Mismatch repair | Gastroenterology | Genetics | Mutation | Deoxyribonucleic acid--DNA | Tumors | Deoxyribonucleic acid | DNA
Journal Article
Human Mutation, ISSN 1059-7794, 12/2009, Volume 30, Issue 12, pp. 1703 - 1712
We evaluated massive parallel sequencing and long‐range PCR (LRP) for rare variant detection and allele frequency estimation in pooled DNA samples. Exons 2 to...
pooling | Illumina sequencing | PCR | association study | MUTYH | Association study | Pooling | 8Q24 | COVERAGE | SUSCEPTIBILITY | CANCER | HAPLOTYPE RECONSTRUCTION | HUMAN GENOME | ALIGNMENT | GENETICS & HEREDITY | COHORT | MUTATION NOMENCLATURE | MUTYH-ASSOCIATED POLYPOSIS | DNA - genetics | Gene Frequency - genetics | Humans | Alleles | Polymerase Chain Reaction | Genetic Variation - genetics | Nucleic Acid Denaturation - genetics | Sequence Analysis, DNA - methods | Genome, Human - genetics
pooling | Illumina sequencing | PCR | association study | MUTYH | Association study | Pooling | 8Q24 | COVERAGE | SUSCEPTIBILITY | CANCER | HAPLOTYPE RECONSTRUCTION | HUMAN GENOME | ALIGNMENT | GENETICS & HEREDITY | COHORT | MUTATION NOMENCLATURE | MUTYH-ASSOCIATED POLYPOSIS | DNA - genetics | Gene Frequency - genetics | Humans | Alleles | Polymerase Chain Reaction | Genetic Variation - genetics | Nucleic Acid Denaturation - genetics | Sequence Analysis, DNA - methods | Genome, Human - genetics
Journal Article
BMC Cancer, ISSN 1471-2407, 05/2010, Volume 10, Issue 1, pp. 180 - 180
Background: To investigate the etiology of MLH1 promoter methylation in mismatch repair (MMR) mutation-negative early onset MSI-H colon cancer. As this type of...
LYNCH-SYNDROME | HYPERMETHYLATION | DNA METHYLATION | ONCOLOGY | NONPOLYPOSIS COLORECTAL-CANCER | SERRATED POLYPS | MICROSATELLITE INSTABILITY | CARCINOMAS | GERMLINE EPIMUTATIONS | MUTATIONS | CELL-LINES | MutL Protein Homolog 1 | ras Proteins - genetics | Colonic Neoplasms - genetics | Microsatellite Instability | Proto-Oncogene Proteins p21(ras) | Age Factors | Oligonucleotide Array Sequence Analysis | Humans | Middle Aged | Loss of Heterozygosity | Case-Control Studies | DNA Methylation | DNA Mutational Analysis | DNA Mismatch Repair | Aged, 80 and over | Cell Cycle Proteins - genetics | Adult | Nuclear Proteins - genetics | Promoter Regions, Genetic | Genetic Predisposition to Disease | Risk Factors | Proto-Oncogene Proteins - genetics | Chi-Square Distribution | Polymorphism, Genetic | Proto-Oncogene Proteins B-raf - genetics | Adaptor Proteins, Signal Transducing - genetics | CpG Islands | Aged | Polymorphism, Single Nucleotide | Mutation | Gene mutations | Colorectal cancer | Development and progression | Genetic aspects | Research | Methylation | Observations | Identification and classification | Causes and theories of causation | Genetic polymorphisms | Cancer | Diseases
LYNCH-SYNDROME | HYPERMETHYLATION | DNA METHYLATION | ONCOLOGY | NONPOLYPOSIS COLORECTAL-CANCER | SERRATED POLYPS | MICROSATELLITE INSTABILITY | CARCINOMAS | GERMLINE EPIMUTATIONS | MUTATIONS | CELL-LINES | MutL Protein Homolog 1 | ras Proteins - genetics | Colonic Neoplasms - genetics | Microsatellite Instability | Proto-Oncogene Proteins p21(ras) | Age Factors | Oligonucleotide Array Sequence Analysis | Humans | Middle Aged | Loss of Heterozygosity | Case-Control Studies | DNA Methylation | DNA Mutational Analysis | DNA Mismatch Repair | Aged, 80 and over | Cell Cycle Proteins - genetics | Adult | Nuclear Proteins - genetics | Promoter Regions, Genetic | Genetic Predisposition to Disease | Risk Factors | Proto-Oncogene Proteins - genetics | Chi-Square Distribution | Polymorphism, Genetic | Proto-Oncogene Proteins B-raf - genetics | Adaptor Proteins, Signal Transducing - genetics | CpG Islands | Aged | Polymorphism, Single Nucleotide | Mutation | Gene mutations | Colorectal cancer | Development and progression | Genetic aspects | Research | Methylation | Observations | Identification and classification | Causes and theories of causation | Genetic polymorphisms | Cancer | Diseases
Journal Article