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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
The world of hereditary cancers has seen exponential growth in recent years. While hereditary breast and ovarian cancer and Lynch syndrome account for the... 
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
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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
BACKGROUND As panel testing becomes more common in clinical practice, it is important to understand the prevalence and trends associated with the pathogenic... 
breast cancer type 1 (BRCA1) | panel testing | hereditary breast and ovarian cancer | BRCA2 | triple‐negative breast cancer | triple-negative breast cancer | POPULATION | BRCA2 MUTATIONS | METAANALYSIS | VARIANTS | RISK | PREVALENCE | FAMILY-HISTORY | SUSCEPTIBILITY GENES | COWDEN-SYNDROME | ONCOLOGY | DIFFUSE GASTRIC-CANCER | 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 | Breast | Ataxia | Ataxia telangiectasia mutated protein | Protein-serine/threonine kinase | Mutation | Health risk assessment | Age | Cancer
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3. Full Text Somatic aberrations of mismatch repair genes as a cause of microsatellite‐unstable cancers
by Geurts‐Giele, Willemina RR and Leenen, Celine HM and Dubbink, Hendrikus J and Meijssen, Isabelle C and Post, Edward and Sleddens, Hein FBM and Kuipers, Ernst J and Goverde, Anne and van den Ouweland, Ans MW and van Lier, Margot GF and Steyerberg, Ewout W and van Leerdam, Monique E and Wagner, Anja and Dinjens, Winand NM
The Journal of Pathology, ISSN 0022-3417, 12/2014, Volume 234, Issue 4, pp. 548 - 559
Lynch syndrome (LS) is caused by germline mutations in mismatch repair (MMR) genes, resulting in microsatellite‐unstable tumours. Approximately 35% of... 
colorectal cancer | germline mutation | mismatch repair deficiency | Lynch syndrome | Germline mutation | Mismatch repair deficiency | Colorectal cancer | LYNCH-SYNDROME | METHYLATION | METAANALYSIS | NONPOLYPOSIS COLORECTAL-CANCER | PATHOLOGY | MLH1 | MISSENSE MUTATIONS | INACTIVATION | ONCOLOGY | VARIANT CLASSIFICATION | BRAF MUTATIONS | SUBSTITUTIONS | Microsatellite Instability | Humans | Middle Aged | Male | DNA Mismatch Repair - genetics | Loss of Heterozygosity | Multiplex Polymerase Chain Reaction | DNA Mutational Analysis | Adult | Female | Aged | Lynch Syndrome II - diagnosis | Lynch Syndrome II - genetics | Mutation | Immunohistochemistry | Endometrial cancer | Gene mutations | Analysis | Genes | Genomics | Genetic research | Genetic aspects | Cancer
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4. 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
Highlights • The Society of Gynecologic Oncology convened a multidisciplinary Genetics Summit. • The benefits and challenges of genetic risk assessment were... 
Hematology, Oncology and Palliative Medicine | Obstetrics and Gynecology | SURVIVAL | STATEMENT | BRCA2 MUTATIONS | IMPACT | ONCOLOGY | DISTRESS | HEREDITARY BREAST | OVARIAN-CANCER | FAMILY-HISTORY | CARCINOMA | AMERICAN SOCIETY | OBSTETRICS & GYNECOLOGY | 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
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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
Abstract Background Lynch syndrome (LS), or hereditary nonpolyposis colorectal cancer, is caused by mutations in mismatch repair (MMR) genes. An increased risk... 
Urology | Genetic | Microsatellite instability | MSH2 | Bladder cancer | Mismatch repair | Lynch syndrome | UPPER URINARY-TRACT | NONPOLYPOSIS COLORECTAL-CANCER | TUMOR SPECTRUM | STATISTICS | REVISED BETHESDA GUIDELINES | CONFERS SUSCEPTIBILITY | HNPCC | UROLOGY & NEPHROLOGY | CELL-CARCINOMA | IMMUNOHISTOCHEMISTRY | 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
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6. Full Text The use of panel testing in familial breast and ovarian cancer
by Prapa, Matina and Solomons, Joyce and Tischkowitz, Marc
Clinical medicine (London, England), ISSN 1470-2118, 12/2017, Volume 17, Issue 6, p. 568
Advances in sequencing technology have led to the introduction of panel testing in hereditary breast and ovarian cancer. While direct-to-consumer testing... 
Hereditary Breast and Ovarian Cancer Syndrome - diagnosis | Humans | Li-Fraumeni Syndrome - diagnosis | Genetic Testing - methods | Tumor Suppressor Protein p53 - genetics | Li-Fraumeni Syndrome - genetics | Epithelial Cell Adhesion Molecule - genetics | Genes, BRCA2 | Female | Lynch Syndrome II - genetics | Genes, BRCA1 | Cadherins - genetics | Hereditary Breast and Ovarian Cancer Syndrome - genetics | PTEN Phosphohydrolase - genetics | Genetic Predisposition to Disease | Protein-Serine-Threonine Kinases - genetics | MutS Homolog 2 Protein - genetics | DNA-Binding Proteins - genetics | Peutz-Jeghers Syndrome - genetics | Sequence Analysis, DNA | MutL Protein Homolog 1 - genetics | Peutz-Jeghers Syndrome - diagnosis | High-Throughput Nucleotide Sequencing | Lynch Syndrome II - diagnosis | Antigens, CD | Lynch Syndrome II | MutL Protein Homolog 1 | Genetic Testing | Li-Fraumeni Syndrome | Protein-Serine-Threonine Kinases | MutS Homolog 2 Protein | Epithelial Cell Adhesion Molecule | Tumor Suppressor Protein p53 | Peutz-Jeghers Syndrome | PTEN Phosphohydrolase | Cadherins | Hereditary Breast and Ovarian Cancer Syndrome | DNA-Binding Proteins
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7. 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 - 4
Lynch syndrome is an autosomal dominant inherited disease caused by germline mutations in mismatch repair genes. Analysis for microsatellite instability (MSI)... 
Screening | Endometrial cancer | MLH1 germline mutation | MLH1 promoter hypermethylation | Lynch syndrome | 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
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8. Full Text Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70years of age
by Goverde, Anne and Spaander, Manon CW and van Doorn, Helena C and Dubbink, Hendrikus J and van den Ouweland, Ans MW and Tops, Carli M and Kooi, Sjarlot G and de Waard, Judith and Hoedemaeker, Robert F and Bruno, Marco J and Hofstra, Robert MW and de Bekker-Grob, Esther W and Dinjens, Winand NM and Steyerberg, Ewout W and Wagner, Anja and LIMO study group
Gynecologic Oncology, ISSN 0090-8258, 12/2016, Volume 143, Issue 3, pp. 453 - 459
To assess cost-effectiveness of routine screening for Lynch Syndrome (LS) in endometrial cancer (EC) patients ≤ 70 years of age. Consecutive EC patients ≤ 70... 
Immunohistochemistry | Microsatellite Instability | Age Factors | Early Detection of Cancer | Humans | Middle Aged | DNA Mismatch Repair - genetics | Colorectal Neoplasms - diagnosis | DNA Methylation | Mass Screening | Endometrial Neoplasms - genetics | DNA Mutational Analysis | Cost-Benefit Analysis | MutL Protein Homolog 1 - genetics | Genetic Counseling - economics | Adult | Family | Female | Aged | Lynch Syndrome II - diagnosis | Lynch Syndrome II - genetics | Genetic Testing - economics | Cancer patients | Diagnosis | Endometrial cancer | Cancer
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9. Full Text Histologic evaluation of prophylactic hysterectomy and oophorectomy in lynch syndrome
by Karamurzin, Yevgeniy and Soslow, Robert A and Garg, Karuna
American Journal of Surgical Pathology, ISSN 0147-5185, 04/2013, Volume 37, Issue 4, pp. 579 - 585
Women with Lynch syndrome (LS) are at increased risk for endometrial (EC) and ovarian carcinoma (OC). Current surveillance recommendations for detection of EC... 
ovarian carcinoma | prophylactic hysterectomy | endometrial carcinoma | endometrial hyperplasia | hereditary nonpolyposis colorectal carcinoma syndrome | Lynch syndrome | COST-EFFECTIVENESS ANALYSIS | SURGERY | NONPOLYPOSIS COLORECTAL-CANCER | MICROSATELLITE INSTABILITY | MSH6 GERMLINE MUTATIONS | PATHOLOGY | ENDOMETRIAL CANCER | COLON-CANCER | HEREDITARY | DNA-MISMATCH-REPAIR | PROTEIN EXPRESSION | GYNECOLOGIC CANCERS | 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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10. A mutation in POLE predisposing to a multi-tumour phenotype
by Rohlin, Anna and Zagoras, Theofanis and Nilsson, Staffan and Lundstam, Ulf and Wahlström, Jan and Hultén, Leif and Martinsson, Tommy and Karlsson, Göran B and Nordling, Margareta
International Journal of Oncology, ISSN 1019-6439, 2014, Volume 45, Issue 1, pp. 77 - 81
Somatic mutations in the POLE gene encoding the catalytic subunit of DNA polymerase epsilon have been found in sporadic colorectal cancers (CRCs) and are most... 
Mutation | POLE | Colorectal cancer | Exome sequencing | mutation | exome sequencing | colorectal cancer | DATABASE | VARIANTS | GENE | ONCOLOGY | DNA-POLYMERASE | SEQUENCING DATA | CANCER | Catalytic Domain | Genetic Predisposition to Disease | Adenoma - genetics | Colorectal Neoplasms - genetics | Humans | Male | Penetrance | DNA Polymerase II - metabolism | Lynch Syndrome II - pathology | Point Mutation | Phenotype | Adenoma - pathology | Female | Aged | Lynch Syndrome II - genetics | Exodeoxyribonucleases - genetics | Colorectal Neoplasms - pathology | DNA Polymerase II - genetics | Amino Acid Substitution
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11. Full Text Hereditary ovarian carcinoma: Heterogeneity, molecular genetics, pathology, and management
by Lynch, Jane F and Lynch, Henry T and Casey, Murray Joseph and Snyder, Carrie L and Bewtra, Chhanda and Butts, Matthew and Godwin, Andrew K
Molecular Oncology, ISSN 1574-7891, 2009, Volume 3, Issue 2, pp. 97 - 137
Hereditary ovarian cancer accounts for at least 5% of the estimated 22,000 new cases of this disease during 2009. During this same time, over 15,000 will die... 
Hereditary ovarian cancer | Review | Hereditary breast-ovarian cancer syndrome | Ovarian cancer | Lynch syndrome | BRCA2 MUTATION CARRIERS | FALLOPIAN-TUBE CARCINOMA | PROPHYLACTICALLY REMOVED OVARIES | SURGICAL ADJUVANT BREAST | NONPOLYPOSIS COLORECTAL-CANCER | TUMOR-SUPPRESSOR GENE | REDUCING SALPINGO-OOPHORECTOMY | HORMONE REPLACEMENT THERAPY | AMERICAN FOUNDER MUTATION | ONCOLOGY | DNA-MISMATCH-REPAIR | MutL Protein Homolog 1 | Genetic Predisposition to Disease | Humans | MutS Homolog 2 Protein - genetics | Ovarian Neoplasms - genetics | Breast Neoplasms - genetics | Adaptor Proteins, Signal Transducing - genetics | Genes, BRCA2 | Female | Lynch Syndrome II - genetics | Neoplastic Syndromes, Hereditary - genetics | Genes, BRCA1 | Nuclear Proteins - genetics | Genetic aspects | Gene mutations | Molecular genetics | Medicine, Preventive | Public health | Preventive health services | BRCA2 protein | Ovarian carcinoma | MLH1 protein | BRCA1 protein | Mismatch repair | MSH2 protein | Breast | Breast cancer | Malignancy | Mutation | Thematic Issue Reviews
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