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Gastroenterology, ISSN 0016-5085, 2015, Volume 149, Issue 4, pp. 1017 - 1029.e3
Background & Aims Patients with bi-allelic germline mutations in mismatch repair (MMR) genes ( MLH1 , MSH2 , MSH6 , or PMS2 ) develop a rare but severe variant... 
Gastroenterology and Hepatology | Tumor | Colon Cancer | Predisposition | Functional Tests | SYSTEM | CELLS | BIALLELIC MUTATIONS | SOMATIC MUTATIONS | HEREDITARY | COLORECTAL-CANCER | PMS2 | MSH6 MUTATIONS | GASTROENTEROLOGY & HEPATOLOGY | GOLD STANDARD | NEUROFIBROMATOSIS TYPE-1 | MutL Protein Homolog 1 | Predictive Value of Tests | Colorectal Neoplasms - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - pathology | Humans | Drug Resistance, Neoplasm | Male | Neoplastic Syndromes, Hereditary - metabolism | Colorectal Neoplasms - diagnosis | Young Adult | DNA Mutational Analysis | Colorectal Neoplasms - drug therapy | Germ-Line Mutation | Mismatch Repair Endonuclease PMS2 | Neoplastic Syndromes, Hereditary - genetics | Caco-2 Cells | Lymphocytes - metabolism | Genetic Predisposition to Disease | Colorectal Neoplasms, Hereditary Nonpolyposis - drug therapy | Brain Neoplasms - diagnosis | HCT116 Cells | Brain Neoplasms - genetics | Neoplastic Syndromes, Hereditary - diagnosis | Heredity | MutS Homolog 2 Protein - genetics | Brain Neoplasms - drug therapy | Multiplex Polymerase Chain Reaction | Antineoplastic Agents, Alkylating - therapeutic use | Colorectal Neoplasms, Hereditary Nonpolyposis - metabolism | Phenotype | Adenosine Triphosphatases - genetics | Biomarkers, Tumor - genetics | Neoplastic Syndromes, Hereditary - drug therapy | Microsatellite Instability | Neoplastic Syndromes, Hereditary - pathology | Brain Neoplasms - pathology | DNA Repair Enzymes - genetics | Genetic Testing - methods | Brain Neoplasms - metabolism | Case-Control Studies | Transfection | Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis | Adult | Female | Nuclear Proteins - genetics | Colorectal Neoplasms - metabolism | Reproducibility of Results | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | DNA-Binding Proteins - genetics | Lymphocytes - drug effects | Adaptor Proteins, Signal Transducing - genetics | Colorectal Neoplasms - pathology | Methylation | Lymphomas | Diagnosis | Gene mutations | Lymphocytes | Leukemia | Colorectal cancer | Index Medicus | Abridged Index Medicus
Journal Article
The American Journal of Surgical Pathology, ISSN 0147-5185, 03/2017, Volume 41, Issue 3, pp. 326 - 333
Mismatch repair (MMR)-deficient endometrial carcinomas (ECs) bearing Lynch syndrome (LS)-associated germline mutations or sporadic MLH1 promoter... 
PD-L1 | mismatch repair | endometrial carcinoma | MLH1 hypermethylation | immunotherapy | Lynch syndrome | SURGERY | MICROSATELLITE INSTABILITY | INFILTRATING LYMPHOCYTES | IMMUNOSCORE | PATHOLOGY | LUNG-CANCER | PROGNOSTIC-FACTOR | IMMUNE-SYSTEM | MICROENVIRONMENT | COLORECTAL-CANCER | BLOCKADE | Immunohistochemistry | Neoplastic Syndromes, Hereditary - pathology | Prognosis | Follow-Up Studies | Endometrial Neoplasms - mortality | Colorectal Neoplasms - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - pathology | Humans | Middle Aged | Brain Neoplasms - pathology | Endometrial Neoplasms - metabolism | Gene Expression Regulation, Neoplastic | Neoplastic Syndromes, Hereditary - metabolism | Brain Neoplasms - metabolism | Neoplastic Syndromes, Hereditary - mortality | Colorectal Neoplasms, Hereditary Nonpolyposis - mortality | DNA Methylation | Endometrial Neoplasms - genetics | DNA Mismatch Repair | Biomarkers, Tumor - metabolism | Female | Neoplastic Syndromes, Hereditary - genetics | Brain Neoplasms - mortality | Colorectal Neoplasms - metabolism | Colorectal Neoplasms - mortality | Promoter Regions, Genetic | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Brain Neoplasms - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - metabolism | B7-H1 Antigen - metabolism | MutL Protein Homolog 1 - genetics | Endometrial Neoplasms - pathology | Aged | Biomarkers, Tumor - genetics | Colorectal Neoplasms - pathology | Index Medicus
Journal Article
American Journal of Surgical Pathology, ISSN 0147-5185, 05/2010, Volume 34, Issue 5, pp. 636 - 644
Journal Article
Human mutation, ISSN 1059-7794, 2016, Volume 37, Issue 11, pp. 1162 - 1179
Journal Article
Human Pathology, ISSN 0046-8177, 2015, Volume 49, pp. 39 - 48
Journal Article
Journal Article
Journal Article
Journal Article
Human Pathology, ISSN 0046-8177, 2014, Volume 45, Issue 8, pp. 1697 - 1703
Journal Article
Gut, ISSN 0017-5749, 12/2005, Volume 54, Issue 12, pp. 1733 - 1740
Background: Hereditary non-polyposis colorectal cancer (HNPCC) is clinically defined by familial clustering of colorectal cancer and other associated tumours.... 
MUTATION ANALYSIS | HMSH2 | HNPCC PATIENTS | MICROSATELLITE INSTABILITY | FAMILIES | MISMATCH-REPAIR | HMLH1 | NATURAL-HISTORY | GASTROENTEROLOGY & HEPATOLOGY | TUMORS | LYNCH SYNDROME-I | Colorectal Neoplasms, Hereditary Nonpolyposis - classification | MutL Protein Homolog 1 | Colorectal Neoplasms, Hereditary Nonpolyposis - pathology | Humans | Middle Aged | Male | Neoplastic Syndromes, Hereditary - metabolism | MutS Homolog 2 Protein - metabolism | Neoplasm Proteins - metabolism | Adult | Female | Neoplastic Syndromes, Hereditary - genetics | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Nucleic Acid Hybridization | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Nuclear Proteins - metabolism | MutS Homolog 2 Protein - genetics | Disease Progression | Microsatellite Repeats - genetics | Carrier Proteins - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - metabolism | Adaptor Proteins, Signal Transducing | Carrier Proteins - metabolism | Pedigree | Age of Onset | Mutation | Population Surveillance | Genetic aspects | Gene mutations | Analysis | Colorectal cancer | Laboratories | Colleges & universities | Gene expression | Patients | Pathology | Surveillance | Counseling | Data collection | Localization | Age | Deoxyribonucleic acid--DNA | Tumors | Index Medicus | Abridged Index Medicus | Colorectal Cancer | microsatellite instability | mutation | hereditary non-polyposis colorectal cancer
Journal Article
Virchows Archiv, ISSN 0945-6317, 8/2018, Volume 473, Issue 2, pp. 241 - 246
Multiple familial trichoepitheliomas (MFT) is an autosomal dominantly inherited disease characterized by multiple skin appendage tumors. We describe a patient... 
Pathology | CYLD | Medicine & Public Health | Trichoepithelioma | Brooke syndrome | Vismodegib | Hedgehog pathway | CYLINDROMATOSIS | SOMATIC-MUTATIONS | PATHOLOGY | TRICHOBLASTIC CARCINOMA | BROOKE-SPIEGLER-SYNDROME | CYLD GENE | Immunohistochemistry | Neoplastic Syndromes, Hereditary - drug therapy | Up-Regulation | Anilides - therapeutic use | Neoplastic Syndromes, Hereditary - pathology | Skin Neoplasms - drug therapy | Zinc Finger Protein GLI1 - metabolism | Humans | Middle Aged | Male | Tomography, X-Ray Computed | Antineoplastic Agents - therapeutic use | Neoplastic Syndromes, Hereditary - metabolism | Neoplastic Syndromes, Hereditary - genetics | Pyridines - therapeutic use | Skin Neoplasms - pathology | Genetic Predisposition to Disease | Zinc Finger Protein GLI1 - genetics | Deubiquitinating Enzyme CYLD - genetics | Treatment Outcome | Heredity | Codon, Nonsense | Skin Neoplasms - metabolism | Phenotype | Signal Transduction - drug effects | Pedigree | Skin Neoplasms - genetics | Medical colleges | RNA | Gene mutations | Gliomas | Analysis | Genes | Genetic research | Genetic aspects | Skin | Gene expression | Nonsense mutation | Brain tumors | Regression analysis | Patients | Neoplasms | Signal transduction | Signaling | Inhibitors | Glioma | Hedgehog protein | Skin diseases | Mutation | Tumors | Index Medicus
Journal Article
The Journal of Pathology, ISSN 0022-3417, 06/2016, Volume 239, Issue 2, pp. 197 - 205
Journal Article