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1. Full Text Current and future role of genetic screening in gynecologic malignancies
by Ring, Kari L., MD and Garcia, Christine, MD and Thomas, Martha H., MS and Modesitt, Susan C., MD
American journal of obstetrics and gynecology, ISSN 0002-9378, 2017, Volume 217, Issue 5, pp. 512 - 521
Obstetrics and Gynecology | BRCA | risk reduction | screening | ovarian cancer | high risk | endometrial cancer | hereditary cancer | cervical cancer | Lynch syndrome | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | 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 | Index Medicus | Abridged Index Medicus
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2. Full Text A study of over 35,000 women with breast cancer tested with a 25‐gene panel of hereditary cancer genes
by Buys, Saundra S and Sandbach, John F and Gammon, Amanda and Patel, Gayle and Kidd, John and Brown, Krystal L and Sharma, Lavania and Saam, Jennifer and Lancaster, Johnathan and Daly, Mary B
Cancer, ISSN 0008-543X, 05/2017, Volume 123, Issue 10, pp. 1721 - 1730
breast cancer type 1 (BRCA1) | panel testing | hereditary breast and ovarian cancer | BRCA2 | triple‐negative breast cancer | triple-negative breast cancer | Life Sciences & Biomedicine | Oncology | Science & Technology | Genetic Testing | Age Factors | Humans | Middle Aged | Young Adult | Checkpoint Kinase 2 - genetics | Tumor Suppressor Proteins - genetics | Aged, 80 and over | Genes, BRCA2 | Adult | Female | RNA Helicases - genetics | Lynch Syndrome II - genetics | Neoplastic Syndromes, Hereditary - genetics | Genes, BRCA1 | Nuclear Proteins - genetics | Fanconi Anemia Complementation Group N Protein | Hereditary Breast and Ovarian Cancer Syndrome - genetics | DNA-Binding Proteins - genetics | Fanconi Anemia Complementation Group Proteins | Breast Neoplasms - genetics | Triple Negative Breast Neoplasms - genetics | Aged | Ataxia Telangiectasia Mutated Proteins - genetics | Ubiquitin-Protein Ligases - genetics | Women | Breast cancer | Genetic aspects | Diagnosis | Research | Health aspects | Oncogenes | BRCA2 protein | CHK2 protein | Threonine | BRCA1 protein | Genes | Health risks | Protein C | Genetic screening | DNA helicase | Men | Ataxia | Ataxia telangiectasia mutated protein | Protein-serine/threonine kinase | Mutation | Health risk assessment | Age | Cancer | Index Medicus | Abridged Index Medicus
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3. Full Text Universal endometrial cancer tumor typing: How much has immunohistochemistry, microsatellite instability, and MLH1 methylation improved the diagnosis of Lynch syndrome across the population?
by Kahn, Ryan M and Gordhandas, Sushmita and Maddy, Brandon Paul and Baltich Nelson, Becky and Askin, Gulce and Christos, Paul J and Caputo, Thomas A and Chapman‐Davis, Eloise and Holcomb, Kevin and Frey, Melissa K
Cancer, ISSN 0008-543X, 09/2019, Volume 125, Issue 18, pp. 3172 - 3183
endometrial cancer | microsatellite instability | immunohistochemistry | mutL homolog 1 (MLH1) methylation | gynecologic oncology | Lynch syndrome | Life Sciences & Biomedicine | Oncology | Science & Technology | Immunohistochemistry | Neoplasms, Cystic, Mucinous, and Serous - metabolism | Microsatellite Instability | Lynch Syndrome II - complications | Humans | Middle Aged | Endometrial Neoplasms - metabolism | Carcinoma, Endometrioid - metabolism | Neoplasms, Cystic, Mucinous, and Serous - genetics | Molecular Diagnostic Techniques | Endometrial Neoplasms - genetics | Carcinoma, Endometrioid - etiology | DNA Mismatch Repair | Female | Lynch Syndrome II - genetics | Neoplasms, Cystic, Mucinous, and Serous - etiology | Carcinoma, Endometrioid - genetics | Endometrial Neoplasms - etiology | DNA Methylation - genetics | MutS Homolog 2 Protein - genetics | DNA-Binding Proteins - genetics | MutL Protein Homolog 1 - genetics | Lynch Syndrome II - diagnosis | MutL Protein Homolog 1 - metabolism | Mismatch Repair Endonuclease PMS2 - genetics | Typing | Stability | Endometrial cancer | MLH1 protein | Staining | Homology | On-line systems | Stability analysis | Microsatellite instability | DNA repair | Genetic screening | Confidence intervals | Screening | Mismatch repair | Genetics | Mutation | Methylation | Endometrium | Deoxyribonucleic acid--DNA | Cancer | Tumors | Index Medicus | Abridged Index Medicus
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4. Full Text Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation
by Pinheiro, Manuela and Pinto, Carla and Peixoto, Ana and Veiga, Isabel and Lopes, Paula and Henrique, Rui and Baldaia, Helena and Carneiro, Fátima and Seruca, Raquel and Tomlinson, Ian and Kovac, Michal and Heinimann, Karl and Teixeira, Manuel R
British journal of cancer, ISSN 0007-0920, 08/2015, Volume 113, Issue 4, pp. 686 - 692
target genes | microsatellite instability | Lynch syndrome | Life Sciences & Biomedicine | Oncology | Science & Technology | MutL Protein Homolog 1 | Microsatellite Instability | Receptors, Transforming Growth Factor beta - genetics | Bone Morphogenetic Protein Receptors, Type II - genetics | Colorectal Neoplasms - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Humans | Middle Aged | Carcinogenesis - genetics | Protein-Serine-Threonine Kinases - genetics | Male | MutS Homolog 2 Protein - genetics | DNA-Binding Proteins - genetics | Germ-Line Mutation - genetics | Young Adult | Activin Receptors, Type II - genetics | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Adult | Female | MutS Homolog 3 Protein | Aged | Nuclear Proteins - genetics | Index Medicus | Genetics & Genomics
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5. Full Text Patients with Lynch Syndrome Mismatch Repair Gene Mutations Are at Higher Risk for Not Only Upper Tract Urothelial Cancer but Also Bladder Cancer
by Skeldon, Sean C and Semotiuk, Kara and Aronson, Melyssa and Holter, Spring and Gallinger, Steven and Pollett, Aaron and Kuk, Cynthia and van Rhijn, Bas and Bostrom, Peter and Cohen, Zane and Fleshner, Neil E and Jewett, Michael A and Hanna, Sally and Shariat, Shahrokh F and Van Der Kwast, Theodorus H and Evans, Andrew and Catto, Jim and Bapat, Bharati and Zlotta, Alexandre R
European urology, ISSN 0302-2838, 2012, Volume 63, Issue 2, pp. 379 - 385
Urology | Genetic | Microsatellite instability | MSH2 | Bladder cancer | Mismatch repair | Lynch syndrome | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Gastroenterology. Liver. Pancreas. Abdomen | Stomach. Duodenum. Small intestine. Colon. Rectum. Anus | Tumors of the urinary system | Urinary tract. Prostate gland | Nephrology. Urinary tract diseases | Biological and medical sciences | Medical sciences | Tumors | MutL Protein Homolog 1 | Kidney Neoplasms - genetics | Microsatellite Instability | Kidney Neoplasms - epidemiology | Carcinoma, Transitional Cell - epidemiology | Humans | Middle Aged | Ureteral Neoplasms - epidemiology | Male | DNA Mismatch Repair - genetics | Urinary Bladder Neoplasms - genetics | Aged, 80 and over | Adult | Female | Registries | Lynch Syndrome II - genetics | Nuclear Proteins - genetics | Urinary Bladder Neoplasms - epidemiology | Carcinoma, Transitional Cell - genetics | Genetic Predisposition to Disease | Risk Factors | Ureteral Neoplasms - genetics | MutS Homolog 2 Protein - genetics | Kidney Pelvis | Adaptor Proteins, Signal Transducing - genetics | Ontario - epidemiology | Aged | Cohort Studies | Gene mutations | Gastrointestinal diseases | Oncology, Experimental | Genes | Colorectal cancer | Genetic aspects | Research | Health aspects | Cancer | Index Medicus
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6. Full Text Multi-disciplinary summit on genetics services for women with gynecologic cancers: A Society of Gynecologic Oncology White Paper
by Randall, Leslie M and Pothuri, Bhavana and Swisher, Elizabeth M and Diaz, John P and Buchanan, Adam and Witkop, Catherine T and Bethan Powell, C and Smith, Ellen Blair and Robson, Mark E and Boyd, Jeff and Coleman, Robert L and Lu, Karen
Gynecologic oncology, ISSN 0090-8258, 2017, Volume 146, Issue 2, pp. 217 - 224
Hematology, Oncology and Palliative Medicine | Obstetrics and Gynecology | Oncology | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Hereditary Breast and Ovarian Cancer Syndrome - genetics | Congresses as Topic | Hereditary Breast and Ovarian Cancer Syndrome - diagnosis | Gynecology | Humans | Genetic Counseling - methods | Consensus Development Conferences as Topic | Genetic Testing - methods | Patient Selection | Societies, Medical | Genetic Services | Female | Lynch Syndrome II - diagnosis | Lynch Syndrome II - genetics | Surgical Oncology | Genital Neoplasms, Female - genetics | Practice Guidelines as Topic | Women | Genetic aspects | Trade and professional associations | Cancer | Analysis | Medical societies | Genetic screening | Index Medicus
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7. Full Text Histologic evaluation of prophylactic hysterectomy and oophorectomy in lynch syndrome
by Karamurzin, Yevgeniy and Soslow, Robert A and Garg, Karuna
The American journal of surgical pathology, ISSN 0147-5185, 04/2013, Volume 37, Issue 4, pp. 579 - 585
ovarian carcinoma | prophylactic hysterectomy | endometrial carcinoma | endometrial hyperplasia | hereditary nonpolyposis colorectal carcinoma syndrome | Lynch syndrome | Pathology | Life Sciences & Biomedicine | Surgery | Science & Technology | Immunohistochemistry | MutL Protein Homolog 1 | Humans | Middle Aged | Family Health | Precancerous Conditions - metabolism | Endometrial Hyperplasia - pathology | Neoplasms, Multiple Primary | Endometrial Hyperplasia - metabolism | Lynch Syndrome II - metabolism | Lynch Syndrome II - surgery | Biomarkers, Tumor - metabolism | Adult | Female | Precancerous Conditions - pathology | Lynch Syndrome II - genetics | Nuclear Proteins - genetics | Uterine Neoplasms - prevention & control | Ovarian Neoplasms - prevention & control | Ovariectomy | Endometrial Hyperplasia - genetics | MutS Homolog 2 Protein - genetics | Hysterectomy | Lynch Syndrome II - pathology | Precancerous Conditions - genetics | Adaptor Proteins, Signal Transducing - genetics | Biomarkers, Tumor - genetics | Mutation | Index Medicus
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8. Full Text Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: A case report and literature review
by Yokoyama, Takanori and Takehara, Kazuhiro and Sugimoto, Nao and Kaneko, Keika and Fujimoto, Etsuko and Okazawa-Sakai, Mika and Okame, Shinichi and Shiroyama, Yuko and Yokoyama, Takashi and Teramoto, Norihiro and Ohsumi, Shozo and Saito, Shinya and Imai, Kazuho and Sugano, Kokichi
BMC cancer, ISSN 1471-2407, 05/2018, Volume 18, Issue 1, pp. 576 - 576
Screening | Endometrial cancer | MLH1 germline mutation | MLH1 promoter hypermethylation | Lynch syndrome | Life Sciences & Biomedicine | Oncology | Science & Technology | Microsatellite Instability | Humans | Middle Aged | DNA Methylation - genetics | Hysterectomy | Endometrial Neoplasms - diagnosis | Genetic Counseling | Promoter Regions, Genetic - genetics | Salpingo-oophorectomy | Endometrial Neoplasms - genetics | MutL Protein Homolog 1 - genetics | Endometrial Neoplasms - surgery | Germ-Line Mutation | Endometrial Neoplasms - pathology | Female | Lynch Syndrome II - diagnosis | Lynch Syndrome II - genetics | Endometrium - pathology | Cancer patients | Care and treatment | Usage | Colorectal cancer | Genetic aspects | Diagnosis | Research | Gene expression | Health aspects | Mutation (Biology) | Cancer | Index Medicus
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9. Full Text Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas
by Spier, Isabel and Holzapfel, Stefanie and Altmüller, Janine and Zhao, Bixiao and Horpaopan, Sukanya and Vogt, Stefanie and Chen, Sophia and Morak, Monika and Raeder, Susanne and Kayser, Katrin and Stienen, Dietlinde and Adam, Ronja and Nürnberg, Peter and Plotz, Guido and Holinski‐Feder, Elke and Lifton, Richard P and Thiele, Holger and Hoffmann, Per and Steinke, Verena and Aretz, Stefan
International journal of cancer, ISSN 0020-7136, 07/2015, Volume 137, Issue 2, pp. 320 - 331
adenomatous polyposis | next‐generation sequencing | familial colorectal cancer | gastrointestinal polyposis syndromes | Lynch syndrome | next-generation sequencing | Life Sciences & Biomedicine | Oncology | Science & Technology | Adenoma - genetics | Colorectal Neoplasms - genetics | Humans | Middle Aged | Family Health | Male | Mutation, Missense | DNA-Directed DNA Polymerase - genetics | Young Adult | Poly-ADP-Ribose Binding Proteins | Adenoma - enzymology | Aged, 80 and over | Germ-Line Mutation | Adult | Female | Phospholipase D - genetics | Child | DNA Polymerase II - genetics | Colorectal Neoplasms - enzymology | Genetic Predisposition to Disease - genetics | Isoenzymes - genetics | Gene Frequency | Phenotype | Pedigree | Adolescent | Aged | Polymorphism, Single Nucleotide | Sequence Analysis, DNA - methods | Gene mutations | Genes | Colorectal cancer | Genetic research | Genetic aspects | Diagnosis | Cancer | Editing | Genotype & phenotype | Mutation | Tumors | Index Medicus
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