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The American journal of gastroenterology, ISSN 0002-9270, 2015, Volume 110, Issue 2, pp. 223 - 262
Journal Article
Journal of clinical oncology, ISSN 1527-7755, 2005, Volume 23, Issue 2, pp. 276 - 292
.... In this review, we highlight the most common hereditary cancer syndromes, most attributable to genes inherited in an autosomal dominant manner with incomplete penetrance, and a number of rare syndromes in which particular progress has been made. The prevalence, penetrance, tumor spectrum, and underlying genetic defects are discussed and summarized in a large table in which a more comprehensive enumeration of syndromes is provided. 
CELL CARCINOMA SYNDROME | CUTANEOUS MALIGNANT-MELANOMA | GENOTYPE-PHENOTYPE CORRELATIONS | GERM-LINE MUTATIONS | FOLLOW-UP CARE | ONCOLOGY | NONPOLYPOSIS COLORECTAL-CANCER | VITAMIN-D-RECEPTOR | FAMILIAL ADENOMATOUS POLYPOSIS | SHARED GENETIC SUSCEPTIBILITY | DIFFUSE GASTRIC-CANCER | Genetic Predisposition to Disease | Neoplasms - therapy | Breast Neoplasms - genetics | Gastrointestinal Neoplasms - genetics | Genetic Testing | Neoplasms - genetics | Retinoblastoma - genetics | Humans | Neoplasms - diagnosis | Neoplastic Syndromes, Hereditary - genetics | Mutation
Journal Article
Journal Article
Cancer, ISSN 0008-543X, 2017, Volume 123, Issue 10, pp. 1721 - 1730
Journal Article
Gastroenterology, ISSN 0016-5085, 2015, Volume 149, Issue 4, pp. 1017 - 1029.e3
... ( MLH1 , MSH2 , MSH6 , or PMS2 ) develop a rare but severe variant of Lynch syndrome called constitutional MMR deficiency (CMMRD... 
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
Journal Article
American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 2017, Volume 217, Issue 5, pp. 512 - 521
The world of hereditary cancers has seen exponential growth in recent years. While hereditary breast and ovarian cancer and Lynch syndrome account... 
Obstetrics and Gynecology | BRCA | risk reduction | screening | ovarian cancer | high risk | endometrial cancer | hereditary cancer | cervical cancer | Lynch syndrome | BRCA2 MUTATION CARRIERS | LI-FRAUMENI SYNDROME | LYNCH-SYNDROME | COLORECTAL-CANCER SYNDROME | PEUTZ-JEGHERS-SYNDROME | RANDOMIZED-TRIAL | REDUCING SALPINGO-OOPHORECTOMY | FAMILIAL OVARIAN-CANCER | OBSTETRICS & GYNECOLOGY | GERMLINE MUTATIONS | Genetic Testing | DNA Polymerase III - genetics | Hereditary Breast and Ovarian Cancer Syndrome - diagnosis | Humans | Li-Fraumeni Syndrome - diagnosis | DNA Mismatch Repair - genetics | Tumor Suppressor Protein p53 - genetics | Genital Neoplasms, Female - diagnosis | Li-Fraumeni Syndrome - genetics | Epithelial Cell Adhesion Molecule - genetics | Genes, BRCA2 | Female | RNA Helicases - genetics | Lynch Syndrome II - genetics | Neoplastic Syndromes, Hereditary - genetics | Genes, BRCA1 | Genital Neoplasms, Female - genetics | Hereditary Breast and Ovarian Cancer Syndrome - genetics | PTEN Phosphohydrolase - genetics | Genetic Predisposition to Disease | Hamartoma Syndrome, Multiple - genetics | Fanconi Anemia Complementation Group Proteins - genetics | Protein-Serine-Threonine Kinases - genetics | Neoplastic Syndromes, Hereditary - diagnosis | MutS Homolog 2 Protein - genetics | DNA-Binding Proteins - genetics | Peutz-Jeghers Syndrome - genetics | Hamartoma Syndrome, Multiple - diagnosis | MutL Protein Homolog 1 - genetics | Peutz-Jeghers Syndrome - diagnosis | Lynch Syndrome II - diagnosis | Mismatch Repair Endonuclease PMS2 - genetics | Gene mutations | Endometrial cancer | Diagnosis | Cervical cancer | Genetic screening | Cancer | Ovarian cancer
Journal Article
Journal Article