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1. Full Text Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification
by Kamps, Rick and Brandao, Rita D and van den Bosch, Bianca J and Paulussen, Aimee D. C and Xanthoulea, Sofia and Blok, Marinus J and Romano, Anea
International journal of molecular sciences, ISSN 1422-0067, 02/2017, Volume 18, Issue 2, pp. 308 - 308
cancer somatic mutation | BRCA2 MUTATION CARRIERS | WHOLE-GENOME AMPLIFICATION | next-generation sequencing | DIHYDROPYRIMIDINE DEHYDROGENASE GENE | gene-panel | whole-genome-sequencing | INHERITED COLORECTAL-CANCER | inherited cancer syndrome | ACUTE MYELOID-LEUKEMIA | genetic modifiers | CLINICALLY ACTIONABLE MUTATIONS | diagnostics | CIRCULATING TUMOR-CELLS | RESIDUAL DISEASE DETECTION | whole-exome-sequencing | METASTATIC BREAST-CANCER | theranostics | NEEDLE-ASPIRATION-CYTOLOGY | Cancer somatic mutation | Next-generation sequencing | Diagnostics | Genetic modifiers | Gene-panel | Inherited cancer syndrome | Theranostics | Whole-exome-sequencing | Whole-genome-sequencing | Biochemistry & Molecular Biology | Physical Sciences | Chemistry | Life Sciences & Biomedicine | Chemistry, Multidisciplinary | Science & Technology | Genetic Predisposition to Disease | Pharmacogenetics | Reproducibility of Results | Genetic Testing | Prognosis | Humans | Computational Biology | Neoplastic Syndromes, Hereditary - diagnosis | Neoplasms - prevention & control | Clinical Trials as Topic | Neoplasms - diagnosis | Biomarkers, Tumor | Neoplasms - drug therapy | Exome | Neoplasms - genetics | Neoplastic Syndromes, Hereditary - genetics | Mutation | Genomics - methods | High-Throughput Nucleotide Sequencing - methods | Cancer | Index Medicus
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2. Full Text Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers
by Heemskerk-Gerritsen, Bernadette A. M and Jager, Agnes and Koppert, Linetta B and Obdeijn, A. Inge-Marie and Collée, Margriet and Meijers-Heijboer, Hanne E. J and Jenner, Denise J and Oldenburg, Hester S. A and van Engelen, Klaartje and de Vries, Jakob and van Asperen, Christi J and Devilee, Peter and Blok, Marinus J and Kets, C. Marleen and Ausems, Margreet G. E. M and Seynaeve, Caroline and Rookus, Matti A and Hooning, Maartje J
Breast cancer research and treatment, ISSN 0167-6806, 10/2019, Volume 177, Issue 3, pp. 723 - 733
Prevention | BRCA1/2 | Medicine & Public Health | Surveillance | Oncology | Bilateral risk-reducing mastectomy | Survival | Life Sciences & Biomedicine | Science & Technology | Breast Neoplasms - surgery | Prognosis | Risk Reduction Behavior | Humans | Mortality | Netherlands - epidemiology | Breast Neoplasms - etiology | Breast Neoplasms - prevention & control | BRCA1 Protein - genetics | Public Health Surveillance | Germ-Line Mutation | Prophylactic Mastectomy - methods | Breast Neoplasms - mortality | Female | Heterozygote | Mutation | BRCA2 Protein - genetics | Gene mutations | Surgery | Genetic aspects | Health aspects | Cancer | Index Medicus
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3. Full Text Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas
by Weren, R.D.A and Mensenkamp, A.R and Simons, M and Eijkelenboom, A and Sie, A.S and Ouchene, H and Asseldonk, M. van and Gomez-Garcia, E.B and Blok, M.J and Hullu, J.A. de and Nelen, M.R and Hoischen, A and Bulten, J and Tops, B.B.J and Hoogerbrugge, N and Ligtenberg, M.J.L
Human mutation, ISSN 1059-7794, 2017, Volume 38, Issue 2, pp. 226 - 235
single molecule molecular inversion probes | PARP‐inhibitor | ovarian cancer | cancer predisposition | BRCA1 | BRCA2 | BRCA testing | personalized medicine | PARP-inhibitor | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Reproducibility of Results | Genetic Association Studies | Genetic Testing - standards | Ovarian Neoplasms - diagnosis | Humans | Genotype | Loss of Heterozygosity | Genetic Counseling | Genetic Testing - methods | DNA Copy Number Variations | Ovarian Neoplasms - genetics | DNA Mutational Analysis | Clinical Decision-Making | Alleles | Genes, BRCA2 | Germ-Line Mutation | Ovarian Neoplasms - therapy | Female | Disease Management | Genes, BRCA1 | Amino Acid Substitution | Care and treatment | Genetic counseling | Gene mutations | Analysis | Medical genetics | Medical tests | Methylation | Sugars | Genetic polymorphisms | Formaldehyde | Monosaccharides | Ovarian cancer | Mutation | Index Medicus | Methods
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4. Full Text Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data
by Fokkema, Ivo F. A. C and van der Velde, Kasper J and Slofstra, Mariska K and Ruivenkamp, Claudia A. L and Vogel, Maartje J and Pfundt, Rolph and Blok, Marinus J and Lekanne Deprez, Ronald H and Waisfisz, Quinten and Abbott, Kristin M and Sinke, Richard J and Rahman, Rubayte and Nijman, Isaäc J and de Koning, Bart and Thijs, Gert and Wieskamp, Nienke and Moritz, Ruben J. G and Charbon, Bart and Saris, Jasper J and den Dunnen, Johan T and Laros, Jeroen F. J and Swertz, Morris A and van Gijn, Marielle E
Human mutation, ISSN 1059-7794, 12/2019, Volume 40, Issue 12, pp. 2230 - 2238
database | diagnostics | NGS | whole‐exome sequencing | data sharing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Guidelines as Topic | Netherlands | Data Accuracy | Laboratories | Humans | Genetic Diseases, Inborn - genetics | Information Dissemination - methods | Databases, Genetic | High-Throughput Nucleotide Sequencing - methods | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA | Pathogenicity | Genomes | Deoxyribonucleic acid--DNA | Classification | DNA sequencing | Index Medicus
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5. Full Text A guide for functional analysis of BRCA1 variants of uncertain significance
by Millot, Gael A and Carvalho, Marcelo A and Caputo, Sanine M and Vreeswijk, Maaike P. G and Brown, Melissa A and Webb, Michelle and Rouleau, Etienne and Neuhausen, Susan L and Hansen, Thomas V. O and Galli, Alvaro and Brandao, Rita D and Blok, Marinus J and Velkova, Aneliya and Couch, Fergus J and Monteiro, Alvaro N and ENIGMA Consortium Functional Assay and ENIGMA Consortium Functional Assay Working Group
Human mutation, ISSN 1059-7794, 11/2012, Volume 33, Issue 11, pp. 1526 - 1537
ovarian | VUS | genetic testing | functional analysis | cancer | BRCA1 | breast | Breast | Functional analysis | Ovarian | Genetic testing | Cancer | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Oligopeptides | Humans | Risk Factors | Transcriptional Activation | Ubiquitin-Protein Ligases - metabolism | Radiation Tolerance - genetics | Male | Bacterial Proteins | Genetic Variation | Ovarian Neoplasms - genetics | BRCA1 Protein - genetics | Breast Neoplasms - genetics | BRCA1 Protein - metabolism | Female | Protein Interaction Domains and Motifs | Transcription Factors | Genes, BRCA1 | BRCA1 Protein - chemistry | Gene mutations | Oncology, Experimental | Genes | Genomics | Research | Universities and colleges | Medicine, Preventive | Genetic screening | Preventive health services | Tumors | Index Medicus
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6. Full Text Growth Pattern in Kabuki Syndrome with a KMT2D Mutation
by Schott, Dina A and Blok, Marinus J and Gerver, Wilhelmus and Devriendt, Koenraad and Zimmermann, Luc J. I and Stumpel, Constance T. R. M
American journal of medical genetics. Part A, ISSN 1552-4825, 12/2016, Volume 170, Issue 12, pp. 3172 - 3179
growth analysis | KMT2D gene | Kabuki syndrome | growth charts | growth genetics | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Face - abnormalities | Humans | Middle Aged | Child, Preschool | Male | Developmental Disabilities - genetics | Intellectual Disability - genetics | Young Adult | Adult | Female | Vestibular Diseases - physiopathology | Neoplasm Proteins - genetics | Child | Abnormalities, Multiple - genetics | Developmental Disabilities - physiopathology | Genetic Predisposition to Disease | Genetic Association Studies | Insulin-Like Growth Factor I | DNA-Binding Proteins - genetics | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Hematologic Diseases - physiopathology | Adolescent | Hematologic Diseases - genetics | Mutation | Vestibular Diseases - genetics | Genetic research | Somatotropin | Birth defects | Genetic aspects | Growth | Estrogen | Index Medicus
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7. Full Text Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes
by Brandao, Rita D and Mensaert, Klaas and Lopez-Perolio, Irene and Tserpelis, Demis and Xenakis, Markos and Lattimore, Vanessa and Walker, Logan C and Kvist, Anders and Vega, Ana and Gutierrez-Enriquez, Sara and Diez, Orland and de la Hoya, Miguel and Spurdle, Amanda B and De Meyer, Tim and Blok, Marinus J and KConFaB Investigators
International journal of cancer, ISSN 0020-7136, 07/2019, Volume 145, Issue 2, pp. 401 - 414
alternative splicing | lynch syndrome | HEREDITARY BREAST | CLASSIFICATION | RISK | UNCLASSIFIED VARIANTS | targeted RNA-seq | BRCA1 | OVARIAN-CANCER | PREDICTION | RAD51C | inherited breast | GERMLINE MUTATIONS | ASSAYS | ovarian cancer syndrome | BRCA1/2 | inherited breast/ovarian cancer syndrome | targeted RNA‐seq | Life Sciences & Biomedicine | Oncology | Science & Technology | Hereditary Breast and Ovarian Cancer Syndrome - genetics | Genetic Predisposition to Disease | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Humans | DNA-Binding Proteins - genetics | Sequence Analysis, RNA - methods | BRCA1 Protein - genetics | Electrophoresis, Capillary | RNA Splicing | Cell Line, Tumor | Female | Mutation | BRCA2 Protein - genetics | RNA | Genes | Genetic research | Disease susceptibility | Genetic aspects | Genetic engineering | Cancer | Alternative splicing | Ovarian carcinoma | Change detection | p53 Protein | E-cadherin | Ovarian cancer | Gene sequencing | MSH6 protein | Electrophoresis | BRCA2 protein | Splicing | BRCA1 protein | MLH1 protein | Anemia | Capillary electrophoresis | MSH2 protein | Breast cancer | Ribonucleic acid--RNA | Gene expression | Genetic variance | Pili | Isoforms | Breast | PTEN protein | Index Medicus | 2 | Cancer Genetics and Epigenetics | Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Klinisk medicin | Clinical Medicine | Medicinsk genetik | Medical Genetics | Medicinska och farmaceutiska grundvetenskaper | Cancer and Oncology | Cancer och onkologi
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