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1. Full Text Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK)
by Pijpe, Anouk and Andrieu, Nadine and Easton, Douglas F and Kesminiene, Ausrele and Cardis, Elisabeth and Noguès, Catherine and Gauthier-Villars, Marion and Lasset, Christine and Fricker, Jean-Pierre and Peock, Susan and Frost, Debra and Evans, D Gareth and Eeles, Rosalind A and Paterson, Joan and Manders, Peggy and van Asperen, Christi J and Ausems, Margreet G E M and Meijers-Heijboer, Hanne and Thierry-Chef, Isabelle and Hauptmann, Michael and Goldgar, David and Rookus, Matti A and van Leeuwen, Flora E and GENEPSO and HEBON and EMBRACE and on behalf of GENEPSO, EMBRACE, and HEBON
BMJ : British Medical Journal, ISSN 0959-8138, 9/2012, Volume 345, Issue 7878, pp. 14 - 14
Radiography | RESEARCH | Cohort studies | Questionnaires | Health hazards | Breast cancer | Mammography | Genetic mutation | Radiation dosage | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Breast - radiation effects | Age Factors | Mutation - radiation effects | Humans | Middle Aged | Risk Factors | Breast Neoplasms - etiology | Proportional Hazards Models | Mammography - adverse effects | Young Adult | Breast Neoplasms - genetics | Genes, BRCA2 | Adult | Female | Heterozygote | Retrospective Studies | Genes, BRCA1 | Dose-Response Relationship, Radiation | Radiation therapy | Mutation | Health risk assessment | Womens health | Index Medicus | Abridged Index Medicus
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2. Full Text Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families
by Potjer, Thomas P and Bollen, S and Grimbergen, Anneliese J.E.M and van Doorn, Remco and Gruis, N. A and Asperen, C.J and Hes, F.J and van der Stoep, Nienke and Dutch Working Grp Clinical Oncogen and Dutch Working Group for Clinical Oncogenetics and on behalf of the Dutch Working Group for Clinical Oncogenetics
International journal of cancer, ISSN 0020-7136, 05/2019, Volume 144, Issue 10, pp. 2453 - 2464
GENETICS | CANCER | MELANOMA | high‐penetrance genes | OCA2 | familial melanoma | gene panel sequencing | MITF | genetic susceptibility | candidate susceptibility genes | BAP1 | high-penetrance genes | Life Sciences & Biomedicine | Oncology | Science & Technology | Lung Neoplasms - genetics | Genetic Predisposition to Disease - genetics | Cyclin-Dependent Kinase 4 - genetics | Humans | Cyclin-Dependent Kinase Inhibitor p16 - genetics | Male | Mesothelioma - genetics | Germ-Line Mutation - genetics | Ubiquitin Thiolesterase - genetics | Melanoma - genetics | Female | Mesothelioma, Malignant | Microphthalmia-Associated Transcription Factor - genetics | Cohort Studies | Telomeres | Anopheles | Genes | Melanoma | Genetic research | Family | Genetic aspects | Disease susceptibility | Microphthalmia-associated transcription factor | Pot1 gene | Albinism | Mesothelioma | Diagnostic systems | Mutation | Health risk assessment | Cyclin-dependent kinase 4 | Gene sequencing | Cancer Genetics and Epigenetics
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3. Full Text Next‐Generation Diagnostics: Gene Panel, Exome, or Whole Genome?
by Sun, Yu and Ruivenkamp, Claudia A.L and Hoffer, Mariëtte J.V and Vrijenhoek, Terry and Kriek, Marjolein and Asperen, Christi J and Dunnen, Johan T and Santen, Gijs W.E
Human mutation, ISSN 1059-7794, 06/2015, Volume 36, Issue 6, pp. 648 - 655
genome sequencing | exome sequencing | NGS | intellectual disability | Intellectual disability | Genome sequencing | Exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome | Reproducibility of Results | Genetic Testing - standards | Humans | Sensitivity and Specificity | Genomics - standards | High-Throughput Nucleotide Sequencing | Genome, Human | Genome-Wide Association Study - methods | Genome-Wide Association Study - standards | Genomics - methods | Genetic Testing - methods | Genomes | Nucleotide sequencing | Analysis | Genes | Genomics | DNA sequencing | Diagnostic tests | Neurological disorders | Index Medicus
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4. 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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5. Full Text Clustering of known low and moderate risk alleles rather than a novel recessive high‐risk gene in non‐BRCA1/2 sib trios affected with breast cancer
by Hilbers, Florentine S and Hof, Peter J and Meijers, Caro M and Mei, Hailiang and Michailidou, Kyriaki and Dennis, Joe and Hogervorst, Frans B. L and Nederlof, Petra M and Asperen, Christi J and Devilee, Peter
International journal of cancer, ISSN 0020-7136, 11/2020, Volume 147, Issue 10, pp. 2708 - 2716
breast cancer | exome | susceptibility | polygenic | recessive | Life Sciences & Biomedicine | Oncology | Science & Technology | Haplotypes | BRCA1 protein | Alleles | Breast cancer | Single-nucleotide polymorphism | Risk factors | Siblings | DNA sequencing | Index Medicus
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6. Full Text The counselees' self-reported request for psychological help in genetic counseling for hereditary breast/ovarian cancer: Not only psychopathology matters
by Vos, Joël and Asperen, Christi and Oosterwijk, Jan and Menko, Fred and Collée, Margriet and Garcia, E.B.G and Tibben, Arend
Psycho-oncology (Chichester, England), ISSN 1057-9249, 04/2013, Volume 22, Issue 4, pp. 902 - 910
distress | genetic counseling | screening | cancer | psychosocial needs | Psychology, Multidisciplinary | Social Sciences | Life Sciences & Biomedicine | Psychology | Social Sciences, Biomedical | Oncology | Biomedical Social Sciences | Science & Technology | Genetic Predisposition to Disease - psychology | Ovarian Neoplasms - psychology | Genetic Counseling - psychology | Genetic Testing | Ovarian Neoplasms - diagnosis | Humans | Self Report | Factor Analysis, Statistical | Health Knowledge, Attitudes, Practice | Ovarian Neoplasms - genetics | BRCA1 Protein - genetics | Health Services Needs and Demand | Netherlands | Breast Neoplasms - genetics | Breast Neoplasms - psychology | Stress, Psychological | Female | Surveys and Questionnaires | Psychopathology | BRCA2 Protein - genetics | Communication | Patient Education as Topic | Breast cancer | Genetic counseling | Personal health | Questionnaires | Ovarian cancer | Index Medicus
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7. Full Text Pathological characterisation of male breast cancer: Results of the EORTC 10085/TBCRC/BIG/NABCG International Male Breast Cancer Program
by Vermeulen, Marijn A and Slaets, Leen and Cardoso, Fatima and Giordano, Sharon H and Tryfonidis, Konstantinos and van Diest, Paul J and Dijkstra, Nizet H and Schröder, Carolien P and van Asperen, Christi J and Linderholm, Barbro and Benstead, Kim and Foekens, Renee and Martens, John W.M and Bartlett, John M.S and van Deurzen, Carolien H.M
European journal of cancer (1990), ISSN 0959-8049, 2017, Volume 82, pp. 219 - 227
Hematology, Oncology and Palliative Medicine | Male | Breast cancer | Histological grade | Fibrotic focus | Tumour-infiltrating lymphocytes | DEPENDENT PROBE AMPLIFICATION | METASTASIS | PROGNOSTIC-FACTORS | PATTERNS | HYPOXIA | INVASIVE DUCTAL CARCINOMA | TUMOR-INFILTRATING LYMPHOCYTES | TERM-FOLLOW-UP | GRADE | Life Sciences & Biomedicine | Oncology | Science & Technology | Immunohistochemistry | Carcinoma, Lobular - pathology | Prognosis | Humans | Middle Aged | Mitotic Index | Lymphocytes, Tumor-Infiltrating - pathology | Survival Analysis | Biomarkers, Tumor - metabolism | Carcinoma, Ductal, Breast - pathology | Aged | Breast Neoplasms, Male - pathology | Fibrosis - pathology | Carcinoma - pathology | Women | Health aspects | Correlation | Histology | Patients | Density | ErbB-2 protein | Molecular chains | Pathology | Epidermal growth factor | Lymphocytes | Fibrosis | Tumors | Cancer | Index Medicus | Medicin och hälsovetenskap
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8. Full Text The functional impact of variants of uncertain significance in BRCA2
by Mesman, Romy L. S and Calléja, Fabienne M. G. R and Hendriks, Giel and Morolli, Bruno and Misovic, Branislav and Devilee, Peter and van Asperen, Christi J and Vrieling, Harry and Vreeswijk, Maaike P. G
Genetics in medicine, ISSN 1098-3600, 02/2019, Volume 21, Issue 2, pp. 293 - 302
Variants of uncertain significance | Homology directed repair | BRCA2 | Functional assays | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Stem cells | Index Medicus
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9. Full Text Differences and similarities in breast cancer risk assessment models in clinical practice: which model to choose?
by Jacobi, Catharina E and de Bock, Geertruida H and Siegerink, Bob and van Asperen, Christi J
Breast cancer research and treatment, ISSN 0167-6806, 05/2009, Volume 115, Issue 2, pp. 381 - 390
VALIDATION | PREDICTION MODELS | Breast cancer | OVARIAN-CANCER | FAMILY-HISTORY | BRCA2 | UMCG Approved | Guidelines | DECISION-SUPPORT | GENETIC SUSCEPTIBILITY | WOMEN | Statistical models | Lifetime risk | Risk assessment | INDIVIDUALIZED PROBABILITIES | BOADICEA MODEL | Medicine & Public Health | Oncology | Life Sciences & Biomedicine | Science & Technology | Gynecology. Andrology. Obstetrics | Mammary gland diseases | Biological and medical sciences | Medical sciences | Tumors | Genetic Predisposition to Disease | Breast Neoplasms - genetics | Humans | Risk Factors | Female | Models, Statistical | Breast Neoplasms - epidemiology | Index Medicus
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