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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
Journal of Clinical Oncology, ISSN 0732-183X, 12/2015, Volume 33, Issue 36, pp. 4301 - 4308
Journal Article
Cancer Research, ISSN 0008-5472, 09/2015, Volume 75, Issue 17, pp. 3446 - 3455
Journal Article
Gastroenterology, ISSN 0016-5085, 2008, Volume 135, Issue 2, pp. 419 - 428.e1
Background & Aims: Although the clinical phenotype of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer) has been well described, little... 
Gastroenterology and Hepatology | BETHESDA GUIDELINES | COLON-CANCER | DNA MISMATCH REPAIR | CHILDHOOD-CANCER | NONPOLYPOSIS COLORECTAL-CANCER | MICROSATELLITE INSTABILITY | HETEROZYGOUS MUTATIONS | GASTROENTEROLOGY & HEPATOLOGY | CONSTITUTIVE DEFICIENCY | ENDOMETRIAL CANCER | GENE PMS2 | Immunohistochemistry | Colorectal Neoplasms - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - pathology | Humans | Middle Aged | DNA Repair Enzymes - genetics | Gene Expression Regulation, Neoplastic | Colorectal Neoplasms - chemistry | DNA-Binding Proteins - analysis | Male | DNA Mutational Analysis - methods | Endometrial Neoplasms - genetics | Ligase Chain Reaction | Adenosine Triphosphatases - analysis | Polymerase Chain Reaction | Germ-Line Mutation | Adult | Female | Mismatch Repair Endonuclease PMS2 | Odds Ratio | Endometrial Neoplasms - chemistry | Risk Assessment | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Genotype | Penetrance | DNA-Binding Proteins - genetics | DNA Repair Enzymes - analysis | Phenotype | Proto-Oncogene Proteins B-raf - genetics | Endometrial Neoplasms - pathology | Heterozygote | Adenosine Triphosphatases - genetics | Aged | Colorectal Neoplasms, Hereditary Nonpolyposis - chemistry | Colorectal Neoplasms - pathology | Genetic aspects | Research | Oncology, Experimental | Colorectal cancer | Cancer | Index Medicus | Abridged Index Medicus
Journal Article
The American Journal of Surgical Pathology, ISSN 0147-5185, 11/2014, Volume 38, Issue 11, pp. 1501 - 1509
Lynch syndrome (LS) is an autosomal dominant inherited disorder caused by germline mutations in DNA mismatch repair (MMR) genes. Mutation carriers are at... 
Microsatellite instability | Endometrial adenocarcinoma | Lynch syndrome | Mismatch-repair deficiency | SURGERY | mismatch-repair deficiency | microsatellite instability | NONPOLYPOSIS COLORECTAL-CANCER | REPAIR PROTEIN IMMUNOHISTOCHEMISTRY | RISK | GENE MUTATION | endometrial adenocarcinoma | PATHOLOGY | CLINICAL-CRITERIA | ACADEMIC-MEDICAL-CENTER | TUMOR MORPHOLOGY | GERMLINE MUTATIONS | GYNECOLOGIC CANCERS | Immunohistochemistry | MutL Protein Homolog 1 | Predictive Value of Tests | Microsatellite Instability | Biomarkers, Tumor - deficiency | Colorectal Neoplasms, Hereditary Nonpolyposis - pathology | Humans | Middle Aged | DNA Mismatch Repair - genetics | Mass Screening - methods | DNA-Binding Proteins - deficiency | Neoplasm Grading | Endometrial Neoplasms - genetics | DNA Mutational Analysis | MutS Homolog 2 Protein - deficiency | Nuclear Proteins - deficiency | Aged, 80 and over | Adult | Female | Mismatch Repair Endonuclease PMS2 | DNA Repair Enzymes - deficiency | Adenosine Triphosphatases - deficiency | Endometrial Neoplasms - chemistry | Risk Assessment | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Risk Factors | California | Biopsy | Adaptor Proteins, Signal Transducing - deficiency | Endometrial Neoplasms - pathology | Aged | Biomarkers, Tumor - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - chemistry | Index Medicus
Journal Article
Clinical Cancer Research, ISSN 1078-0432, 08/2017, Volume 23, Issue 15, pp. 4473 - 4481
Purpose: Recent studies show that colorectal tumors with high microsatellite instability (MSI-H) have increased immunogenicity and response to immunotherapy... 
ISLAND METHYLATOR PHENOTYPE | TUMOR-INFILTRATING LYMPHOCYTES | INSTABILITY | ONCOLOGY | COLORECTAL-CANCER | LYNCH SYNDROME | MUTATIONS | EXPRESSION | Microsatellite Instability | CD8-Positive T-Lymphocytes - pathology | Colorectal Neoplasms - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - pathology | Humans | Middle Aged | Colorectal Neoplasms, Hereditary Nonpolyposis - immunology | Endometrial Neoplasms - diagnosis | Colorectal Neoplasms - diagnosis | Microsatellite Repeats - genetics | Tumor Microenvironment - immunology | Endometrial Neoplasms - immunology | Colorectal Neoplasms - immunology | Tumor Microenvironment - genetics | Endometrial Neoplasms - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis | Immunotherapy | Endometrial Neoplasms - pathology | Female | Aged | CD8-Positive T-Lymphocytes - immunology | Colorectal Neoplasms - pathology | Multiplexing | Populations | Endometrial cancer | CD8 antigen | Clinical trials | Fluorescence | Microsatellite instability | Macrophages | Metastases | Granzyme B | Compartments | Endometrium | Medical research | Immune response | Microsatellites | Stability | Stroma | Immune systems | Immunogenicity | Lymphocytes B | Experimental design | PD-L1 protein | Infiltration | Hormone replacement therapy | Health risk assessment | Tumors | Cancer | Index Medicus | microsatellite instability | immune microenvironment | Uterine cancer | hereditary cancers | Lynch syndrome
Journal Article
Cancer, ISSN 0008-543X, 08/2018, Volume 124, Issue 15, pp. 3145 - 3153
A combined approach that includes both endometrial and colorectal tumors in a universal screening program for Lynch syndrome enhances the detection of families... 
endometrial cancer | colorectal cancer | universal screening | hereditary cancer syndromes | Lynch syndrome | COST-EFFECTIVENESS | FEASIBILITY | NONPOLYPOSIS COLORECTAL-CANCER | GUIDELINES | IMPLEMENTATION | VALIDATION | IDENTIFICATION | STRATEGIES | ACADEMIC-MEDICAL-CENTER | ONCOLOGY | GERMLINE MUTATIONS | Immunohistochemistry | Colonic Neoplasms - genetics | Genetic Testing | Early Detection of Cancer - methods | Colorectal Neoplasms, Hereditary Nonpolyposis - pathology | Humans | Middle Aged | Colonic Neoplasms - diagnosis | Gene Expression Regulation, Neoplastic | Male | Endometrial Neoplasms - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis | Female | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Colonic Neoplasms - epidemiology | MutS Homolog 2 Protein - genetics | Endometrial Neoplasms - epidemiology | DNA-Binding Proteins - genetics | Endometrial Neoplasms - diagnosis | Colorectal Neoplasms, Hereditary Nonpolyposis - epidemiology | Colonic Neoplasms - pathology | MutL Protein Homolog 1 - genetics | Endometrial Neoplasms - pathology | Aged | Biomarkers, Tumor - genetics | Mutation | Mismatch Repair Endonuclease PMS2 - genetics | Animal models | Colorectal carcinoma | Homology | Criteria | Genetic screening | MSH6 protein | Prediction models | Risk assessment | DNA methylation | Mathematical models | Colon | Endometrium | Calculators | Sarcoma | MLH1 protein | MSH2 protein | Patients | Screening | Software | Added value | Methylation | Cancer | Tumors | Index Medicus | Abridged Index Medicus
Journal Article
The American Journal of Surgical Pathology, ISSN 0147-5185, 09/2014, Volume 38, Issue 9, pp. 1173 - 1181
Journal Article
Journal Article