Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000: Progress since 2000

Authors: Aleksandar M. Kostov, Maj-Britt Jensen, Bent Ejlertsen, Mads Thomassen, Caroline Maria Rossing, Inge S. Pedersen, Annabeth H. Petersen, Lise Lotte Christensen, Karin A.W. Wadt, Anne-Vibeke Lænkholm

Source: Acta Oncol
Acta Oncologica, Vol 64 (2025)
Kostov, A M, Jensen, M-B, Ejlertsen, B, Thomassen, M, Rossing, C M, Pedersen, I S, Petersen, A H, Christensen, L L, Wadt, K A W & Lænkholm, A-V 2025, 'Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000', Acta Oncologica, vol. 64, pp. 147-155. https://doi.org/10.2340/1651-226X.2025.42418
Kostov, A M, Jensen, M B, Ejlertsen, B, Thomassen, M, Rossing, M, Pedersen, I S, Petersen, A H, Christensen, L L, Wadt, K A W & Lænkholm, A V 2025, ' Germline BRCA testing in Denmark following invasive breast cancer : Progress since 2000 ', Acta Oncologica, vol. 64, pp. 147-155 . https://doi.org/10.2340/1651-226X.2025.42418
Kostov, A M, Jensen, M B, Ejlertsen, B, Thomassen, M, Rossing, M, Pedersen, I S, Petersen, A H, Christensen, L L, Wadt, K A W & Lænkholm, A V 2025, 'Germline BRCA testing in Denmark following invasive breast cancer : Progress since 2000', Acta Oncologica, vol. 64, pp. 147-155. https://doi.org/10.2340/1651-226X.2025.42418

Subject Terms: Adult, Genetic testing, Genetic Testing/statistics & numerical data, Denmark, Breast Neoplasms, Breast Neoplasms/genetics, Cohort Studies, Danish Breast Cancer Group, Original Report, Humans, Genetic Predisposition to Disease, Genetic Testing, pathogenic variants, RC254-282, Germ-Line Mutation, Aged, BRCA2 Protein, pathogenic germline variants, BRCA1 Protein, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, hereditary breast cancer, Middle Aged, BRCA2 Protein/genetics, Denmark/epidemiology, BRCA1 Protein/genetics, Female

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39876688
https://doaj.org/article/f43c77f1b97f4c95b05295e2a1592287
https://vbn.aau.dk/da/publications/1757f2c4-56f0-46e1-b62f-b46b76b4f55c
https://vbn.aau.dk/ws/files/768168423/Kostov_et_al._2025_._Germline_BRCA_testing_in_Denmark_following_invasive_breast_cancer_-_Progress_since_2000.pdf
https://doi.org/10.2340/1651-226X.2025.42418
http://www.scopus.com/inward/record.url?scp=85217274327&partnerID=8YFLogxK
https://curis.ku.dk/ws/files/429889023/AO42418.pdf
https://portal.findresearcher.sdu.dk/da/publications/b8e7a120-5a06-4151-9187-8527f0f04dce
https://doi.org/10.2340/1651-226X.2025.42418
https://pure.au.dk/portal/en/publications/9c3def68-eea6-4ced-b66f-f46df5725f9c
https://doi.org/10.2340/1651-226X.2025.42418
http://www.scopus.com/inward/record.url?scp=85217274327&partnerID=8YFLogxK

Chromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein—A Nationwide Study

Authors: Cathrine Vedel, Richard Farlie, Laura Vase, Lise Hald Nielsen, Ann Nygaard Jensen, Sidsel Svennekjaer Barken, Karina Hjort‐Pedersen, Olav Bjørn Petersen

Source: Prenat Diagn
Vedel, C, Farlie, R, Vase, L, Nielsen, L H, Jensen, A N, Barken, S S, Hjort-Pedersen, K & Petersen, O B 2025, 'Chromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein-A Nationwide Study', Prenatal Diagnosis, vol. 45, no. 3, pp. 348-351. https://doi.org/10.1002/pd.6749
Vedel, C, Farlie, R, Vase, L, Nielsen, L H, Jensen, A N, Barken, S S, Hjort-Pedersen, K & Petersen, O B 2025, ' Chromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein — A Nationwide Study ', Prenatal Diagnosis, vol. 45, no. 3, pp. 348-351 . https://doi.org/10.1002/pd.6749
Vedel, C, Farlie, R, Vase, L, Nielsen, L H, Jensen, A N, Barken, S S, Hjort-Pedersen, K & Petersen, O B 2025, 'Chromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein : A Nationwide Study', Prenatal Diagnosis, vol. 45, no. 3, pp. 348-351. https://doi.org/10.1002/pd.6749

Subject Terms: Chromosome Aberrations, Adult, Umbilical Veins, Chromosome Aberrations/statistics & numerical data, Genetic Testing/statistics & numerical data, Denmark, Denmark/epidemiology, Umbilical Veins/diagnostic imaging, Pregnancy, Humans, Original Article, Female, Genetic Testing, Retrospective Studies

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39871018
http://www.scopus.com/inward/record.url?scp=85216193090&partnerID=8YFLogxK
https://vbn.aau.dk/da/publications/360ff759-dac1-4a67-a156-44a435f3c265
https://doi.org/10.1002/pd.6749
https://vbn.aau.dk/ws/files/770416470/Vedel_et_al._2025_._Chromosomal_Aberrations_in_Fetuses_With_Isolated_Persistent_Right_Umbilical_Vein_A_Nationwide_Study.pdf
https://curis.ku.dk/ws/files/449417051/Prenatal_Diagnosis_-_2025_-_Vedel_-_Chromosomal_Aberrations_in_Fetuses_With_Isolated_Persistent_Right_Umbilical_Vein_A.pdf
http://www.scopus.com/inward/record.url?scp=85216193090&partnerID=8YFLogxK
https://doi.org/10.1002/pd.6749
https://pure.au.dk/portal/en/publications/fc3ea900-bfb9-469a-a18a-9b3499d07557

Evaluation of BRCA1/2 testing rates in epithelial ovarian cancer patients: lessons learned from real-world clinical data: lessons learned from real-world clinical data

Authors: Lieke Lanjouw, Claire J. H. Kramer, Arja ter Elst, Geertruida H. de Bock, Katja N. Gaarenstroom, Refika Yigit, Lieke P. V. Berger, Christi J. van Asperen, Sabrina Z. Commandeur-Jan, Dimas M. X. van der Hall, Mathilde Jalving, Marjolein J. Kagie, Nienke van der Stoep, Tom van Wezel, Marian J. E. Mourits, Tjalling Bosse, Joost Bart

Source: Fam Cancer

Subject Terms: Ovarian Neoplasms, BRCA2 Protein, Adult, Genetic Testing/statistics & numerical data, BRCA1 Protein, Carcinoma, Carcinoma, Ovarian Epithelial, Middle Aged, Poly(ADP-ribose) Polymerase Inhibitors, Ovarian Epithelial/genetics, BRCA2 Protein/genetics, Ovarian Neoplasms/genetics, BRCA1 Protein/genetics, Humans, Original Article, Female, Genetic Predisposition to Disease, Genetic Testing, Poly(ADP-ribose) Polymerase Inhibitors/therapeutic use, Germ-Line Mutation, Netherlands, Aged

Access URL: https://pubmed.ncbi.nlm.nih.gov/40323485
https://research.rug.nl/en/publications/e73b141a-e2d7-4a89-a371-347b40d67bd8
https://hdl.handle.net/11370/e73b141a-e2d7-4a89-a371-347b40d67bd8
https://doi.org/10.1007/s10689-025-00467-7

Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute.

Authors: Calzetti, Giacomo, Schwarzwälder, Kerstin, Ottonelli, Giorgia, Kaminska, Karolina, Strauss, Rupert Wolfgang, Baere, Elfride De, Leroy, Bart P, Audo, Isabelle, Zeitz, Christina, Cursiefen, Claus, Stingl, Katarina, Boon, Camiel J F, Marques, João Pedro, Santos, Cristina, Ayuso Garcia, Carmen, Escher, Pascal, Cordeiro, M Francesca, D'Esposito, Fabiana, Charbel Issa, Peter, Lotery, Andrew, Lin, Siying, Michaelides, Michel, Rivolta, Carlo, Scholl, Hendrik P N

Contributors: Repositório da Unidade Local de Saúde São José

Subject Terms: Europe, IOGP OFT, Genetic Counseling, Genetic Testing* / standards, Genetic Testing* / statistics & numerical data, Humans, Retinal Diseases* / diagnosis, Retinal Diseases* / genetics

File Description: application/pdf

Availability: http://hdl.handle.net/10400.17/5190

Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium.

Authors: Chawner, SJRA, Mihaljevic, M., Morrison, S., Eser, H.Y., Maillard, A.M., Nowakowska, B., van den Bree, MBM, Swillen, A.

Contributors: MINDDS Consortium, Tatar, A., Harwood, A., Fortuna, A., Malousi, A., Swillen, A., Maillard, A.M., Şen, A., Nowakowska, B., Lozic, B., Izgi, B., Linden, D., Taruscio, D., Gothelf, D., Bora, E., Angelovska, E.S., Boot, E., Perçin, F., Degenhardt, F., Chiarenza, G., Cuturilo, G., Eser, H.Y., Aschauer, H., Siebner, H., Moss, H., Kayserili, H., Sønderby, I.E., Libiger, J., Karaer, K., Baker, K., Kendall, K., Gallagher, L., Raymond, L., Budisteanu, M., Janovic, M.B., Isrie, M., Martins, M., do Rosário Pinto Leite, M., van den Bree, M., Raleva, M., Mihaljevic, M., Alikasifoglu, M., Larsen, M., Diana, M., Paneque, M., Schloegelhofer, M., Oliva-Teles, N., Miljanovic, O., Jorge, P., Skiba, P., O'conaill, R., Smigiel, R., Stefanov, R., Chawner, S., Frkovic, S.H., Ciric, S., Medved, S., Bergen, S., Ceylaner, S., Rakic, S., Markovska-Simoska, S., Pušeljić, S., Morrison, S., Djurovic, S., van Amelsvoort, T., Cora, T., Peycheva, V., Koutkias, V., Saglam, Y., Kodra, Y., Celik, Z.Y.

Subject Terms: DNA Copy Number Variations, Databases, Genetic, Developmental Disabilities/diagnosis, Developmental Disabilities/genetics, Europe, Gene Frequency, Genetic Testing/methods, Genetic Testing/statistics & numerical data, Genome-Wide Association Study/methods, Genome-Wide Association Study/statistics & numerical data, Humans, Information Dissemination, Phenotype, Copy number variants, European, Medical genetics, Neurodevelopmental disorders, Psychiatric genetics, Research collaboration

File Description: application/pdf

Relation: European Journal of Medical Genetics; https://iris.unil.ch/handle/iris/228542; serval:BIB_CAFE2CE91042; 000601163300013

Availability: https://iris.unil.ch/handle/iris/228542
https://doi.org/10.1016/j.ejmg.2020.104093

Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome.

Authors: Boyd, P.A., Devigan, C., Khoshnood, B., Loane, M., Garne, E., Dolk, H.

Contributors: EUROCAT Working Group

Subject Terms: Abortion, Induced/statistics & numerical data, Down Syndrome/diagnosis, Down Syndrome/drug therapy, Europe/epidemiology, Female, Genetic Testing/statistics & numerical data, Gestational Age, Health Policy, Humans, Neural Tube Defects/diagnosis, Pregnancy, Pregnancy Trimesters, Prenatal Diagnosis/statistics & numerical data, Questionnaires, Ultrasonography, Prenatal/statistics & numerical data

File Description: application/pdf

Relation: BJOG: An International Journal of Obstetrics & Gynaecology; https://iris.unil.ch/handle/iris/205647; serval:BIB_EA184AFB1061; 000254856300003

Availability: https://iris.unil.ch/handle/iris/205647
https://doi.org/10.1111/j.1471-0528.2008.01700.x

Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal

Authors: Milena Paneque, Joana Félix, Álvaro Mendes, Carolina Lemos, Susana Lêdo, João Silva, Jorge Sequeiros

Contributors: Instituto de Investigação e Inovação em Saúde

Source: Acta Médica Portuguesa, Vol 32, Iss 4, Pp 295-304 (2019)

Subject Terms: Adult, 0301 basic medicine, Medicine (General), Genetic testing, Time Factors, Patient Dropouts, Adolescent, Neurologic Examination / statistics & numerical data, Machado-Joseph Disease / diagnosis, Amyloid Neuropathies, Familial / genetics, Genetic Counseling, Disclosure, Patient Dropouts / statistics & numerical data, Young Adult, 03 medical and health sciences, R5-920, 0302 clinical medicine, Humans, Heredodegenerative Disorders, Nervous System / psychology, Genetic Testing, Age of Onset, Heredodegenerative Disorders, Nervous System / diagnosis, Quality of Health Care, Aged, Retrospective Studies, Neurologic Examination / psychology, Aged, 80 and over, Neurologic Examination, Amyloid Neuropathies, Familial, Portugal, Genetic Carrier Screening, Neurodegenerative diseases, Neurodegenerative Diseases, Machado-Joseph Disease, Machado-Joseph Disease / genetics, Middle Aged, Heredodegenerative Disorders, Nervous System / genetics, Amyloid Neuropathies, Familial / diagnosis, Socioeconomic Factors, Asymptomatic Diseases, Genetic Counseling / statistics & numerical data, Quality of health care, Genetic Testing / statistics & numerical data, Medicine, Heredodegenerative Disorders, Nervous System, Genetic counseling

File Description: application/pdf

Access URL: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/download/10526/5661
https://pubmed.ncbi.nlm.nih.gov/31067424
https://doaj.org/article/27cabafc131b40fa93df83c667ad951b
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10526
https://www.ncbi.nlm.nih.gov/pubmed/31067424
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/download/10526/5661
https://hdl.handle.net/10216/136317

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes

Authors: Byrjalsen, Anna, Hansen, Thomas V.O., Stoltze, Ulrik K., Mehrjouy, Mana M., Barnkob, Nanna Moeller, Hjalgrim, Lisa L., Mathiasen, René, Lautrup, Charlotte K., Gregersen, Pernille A., Hasle, Henrik, Wehner, Peder S., Tuckuviene, Ruta, Sackett, Peter Wad, Laspiur, Adrian O., Rossing, Maria, Marvig, Rasmus L., Tommerup, Niels, Olsen, Tina Elisabeth, Scheie, David, Gupta, Ramneek, Gerdes, Anne Marie, Schmiegelow, Kjeld, Wadt, Karin

Source: Byrjalsen, A, Hansen, T V O, Stoltze, U K, Mehrjouy, M M, Barnkob, N M, Hjalgrim, L L, Mathiasen, R, Lautrup, C K, Gregersen, P A, Hasle, H, Wehner, P S, Tuckuviene, R, Sackett, P W, Laspiur, A O, Rossing, M, Marvig, R L, Tommerup, N, Olsen, T E, Scheie, D, Gupta, R, Gerdes, A M, Schmiegelow, K & Wadt, K 2020, 'Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes', PLOS Genetics, vol. 16, no. 12, e1009231. https://doi.org/10.1371/JOURNAL.PGEN.1009231

Subject Terms: Adolescent, Child, Preschool, Female, Genetic Testing/statistics & numerical data, Germ-Line Mutation, Humans, Incidence, Infant, Male, Mutation Rate, Neoplastic Syndromes, Hereditary/epidemiology, Whole Genome Sequencing/statistics & numerical data

File Description: application/pdf

Availability: https://portal.findresearcher.sdu.dk/da/publications/a8f617ff-c79f-45d4-a034-9cb0edb33eee
https://doi.org/10.1371/JOURNAL.PGEN.1009231
https://findresearcher.sdu.dk/ws/files/178123240/journal.pgen.1009231.pdf

Routine use of next-generation sequencing for preimplantation genetic diagnosis of blastomeres obtained from embryos on day 3 in fresh in vitro fertilization cycles

Authors: Łukaszuk, K., Pukszta, S., Wells, D., Cybulska, C., Liss, J., Płóciennik, Ł., Kuczyński, Waldemar, Zabielska, J.

Source: Fertility and Sterility. 103:1031-1036

Subject Terms: semiconductor-based sequencer, Adult, 0301 basic medicine, Blastomeres, Pregnancy Rate, Blastomeres - metabolism, Case-control studies, Embryo transfer - statistics & numerical data, Preimplantation diagnosis - methods, Fertilization in Vitro, routine - methods, Pregnancy rate, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Genetic testing - statistics & numerical data, aneuploidy screening, Humans, Genetic Testing, preimplantation genetic diagnosis, Preimplantation Diagnosis, routine - statistics & numerical data, Diagnostic Tests, Routine, Blastomeres - cytology, High-Throughput Nucleotide Sequencing, Blastocyst - cytology, Blastocyst - metabolism, Embryo Transfer, 3. Good health, Preimplantation diagnosis - adverse effects, Blastocyst, genotyping, Diagnostic tests, Case-Control Studies, Fertilization in vitro - statistics & numerical data, High-throughput nucleotide sequencing - statistics & numerical data, Preimplantation diagnosis - statistics & numerical data, next-generation sequencing, Female, Genetic testing - methods

Access URL: https://pubmed.ncbi.nlm.nih.gov/25624194
http://www.sciencedirect.com/science/article/pii/S0015028214025540
https://pubmed.ncbi.nlm.nih.gov/25624194/
http://www.obs-gyn.ox.ac.uk/publications/506655
https://www.ncbi.nlm.nih.gov/pubmed/25624194
https://www.sciencedirect.com/science/article/pii/S0015028214025540
https://www.wrh.ox.ac.uk/publications/506655

Genetic testing in amyotrophic lateral sclerosis / Genetisk utredning ved amyotrofisk lateral sklerose

Authors: Nakken, Ola, Sörum, Lillian, Holmöy, Trygve

Source: Tidsskrift for Den Norske Laegeforening. 138(13):1251

Landelijke variatie in moleculaire diagnostiek bij gemetastaseerde longkanker

Authors: Kuijpers, Chantal C.H.J., Van Den Heuvel, Michel M., Overbeek, Lucy I.H., Van Slooten, Henk Jan, Van Lindert, Anne S.R., Damhuis, Ronald A.M., Willems, Stefan M.

Contributors: Pathologie Groep Moelans, Cancer, Onderzoeksgroep 6, Longziekten, Infection & Immunity, Pathologie Pathologen staf

Subject Terms: Gene Rearrangement, Male, Medicine(all), Lung Neoplasms/genetics, Genetic Testing/statistics & numerical data, Molecular Diagnostic Techniques/statistics & numerical data, ErbB Receptors/genetics, Research Support, Non-U.S. Gov't, General Medicine, Anaplastic Lymphoma Kinase/genetics, Middle Aged, Health Services Misuse, Proto-Oncogene Proteins p21(ras)/genetics, Carcinoma, Non-Small-Cell Lung/genetics, Mutation, Journal Article, Humans, Female, Aged, Netherlands, Retrospective Studies

File Description: image/pdf; application/pdf

Access URL: https://dspace.library.uu.nl/handle/1874/391383
https://dspace.library.uu.nl/handle/1874/374250

Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe: A population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

Authors: Barisic Ingeborg, Boban Ljubica, Loane Maria, Garne Ester, Wellesley Diana, Calzolari Elisa, Dolk Helen, Addor MarieClaude, Bergman Jorieke E H, Braz Paula, Draper Elizabeth S, Haeusler Martin, Khoshnood Babak, Klungsoyr Kari, Pierini Anna, QueisserLuft Annette, Rankin Judith, Rissmann Anke, VerellenDumoulin Christine

Source: Barisic, I, Boban, L, Loane, M, Garne, E, Wellesley, D, Calzolari, E, Dolk, H, Addor, M-C, Bergman, J E, Braz, P, Draper, E S, Haeusler, M, Khoshnood, B, Klungsoyr, K, Pierini, A, Queisser-Luft, A, Rankin, J, Rissmann, A & Verellen-Dumoulin, C 2015, ' Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe ', European Journal of Human Genetics, vol. 23, pp. 746–752 . https://doi.org/10.1038/ejhg.2014.174

Subject Terms: Prenatal Diagnosis/statistics & numerical data, ANOMALIES, Male, 0301 basic medicine, Genetic Testing/statistics & numerical data, PHENOTYPES, SHH, Polycystic Kidney Diseases/diagnosis, 03 medical and health sciences, Pregnancy, Prenatal Diagnosis, Prevalence, CRITERIA, Meckel-Gruber syndrome, Epidemiology, Congenital anomalies, Europe, Humans, Genetic Testing, Encephalocele, SPECTRUM, Polycystic Kidney Diseases, 0303 health sciences, MUTATIONS, Ciliary Motility Disorders/diagnosis, 3. Good health, 13. Climate action, NEURAL-TUBE DEFECTS, Female, Encephalocele/diagnosis, Retinitis Pigmentosa, Ciliary Motility Disorders

File Description: application/pdf

Access URL: https://www.nature.com/articles/ejhg2014174.pdf
https://pubmed.ncbi.nlm.nih.gov/25182137
https://www.bib.irb.hr/735124
https://www.nature.com/articles/ejhg2014174.pdf
http://europepmc.org/articles/PMC4795048
https://eprints.ncl.ac.uk/208894
https://pure.ulster.ac.uk/en/publications/meckel-gruber-syndrome-a-population-based-study-on-prevalence-pre-3
https://www.bib.irb.hr/735124
https://repositorio.insa.pt/handle/10400.18/3736
https://portal.findresearcher.sdu.dk/da/publications/cd2b9f3e-fb8c-45e4-858f-2427c1fc6422
https://portal.findresearcher.sdu.dk/da/publications/cd2b9f3e-fb8c-45e4-858f-2427c1fc6422
https://doi.org/10.1038/ejhg.2014.174

Restriction of human papillomavirus DNA testing in primary cervical screening to women above age 30: systematic review

Authors: Rebolj, Matejka, Njor, Sisse H, Lynge, Elsebeth

Source: European Journal of Cancer Prevention. 21:73-81

Subject Terms: Viral/genetics, Genetic Testing/statistics & numerical data, Papillomavirus Infections, Uterine Cervical Neoplasms, DNA, Papillomavirus Infections/diagnosis, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Uterine Cervical Neoplasms/diagnosis, DNA, Viral, Humans, Mass Screening, Papillomaviridae/genetics, Female, Viral, Genetic Testing, Papillomaviridae

Access URL: https://pubmed.ncbi.nlm.nih.gov/21968690

Genetic Structure Adds Power to Detect Schizophrenia Susceptibility at SLIT3 in the Chinese Han Population

Authors: La, Y, Duan, Y, Gao, B, Gu, N, Zhu, S, Liu, H, Salter, H, He, L, Shi, Y, Zhao, X, Yu, L, Xu, Y, Feng, G, Tao, R, Tang, J

Source: Genome Research. 14:1345-1349

Subject Terms: Adult, Male, 0301 basic medicine, Genetic Testing/statistics & numerical data, Schizophrenia/epidemiology/*genetics, Polymorphism, Single Nucleotide, Chromosomes, 03 medical and health sciences, Asian People, Genetics, Genetics, Population/methods/statistics & numerical data, Cluster Analysis, Humans, Computer Simulation, Genetic Predisposition to Disease, Genetic Testing, Polymorphism, Genetic Predisposition to Disease/epidemiology/*genetics, 0303 health sciences, Population/methods/statistics & numerical data, Asian Continental Ancestry Group/*ethnology/*genetics/statistics & numerical data, Genetic Variation, Chromosomes, Human, Pair 5/genetics, Polymorphism, Single Nucleotide/genetics, Computer Simulation/statistics & numerical data, Genetics, Population, Genetic Variation/genetics, Schizophrenia, Chromosomes, Human, Pair 5, Pair 5/genetics, Female, Single Nucleotide/genetics, Human

Access URL: http://genome.cshlp.org/content/14/7/1345.full.pdf
https://pubmed.ncbi.nlm.nih.gov/15231749
https://core.ac.uk/display/3492201
https://europepmc.org/article/MED/15231749
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC442150
http://hdl.handle.net/10722/208438

Will utilize genetic expertise better / Vil utnytte genetisk ekspertise bedre

Authors: Thoresen, Sigrid Bratlie, Kvale, Hallvard

Source: Genialt. 24(3):15

Genetic testing / Gentesting

Authors: Torheim, Norunn K

Source: Genialt. 20(3):11

Next-generation sequencing in prenatal setting: Some examples of unexpected variant association: Some examples of unexpected variant association

Authors: Rinaldi, Berardo, Race, Valerie, Corveleyn, Anniek, Van Hoof, Evelien, Bauters, Marijke, Van den Bogaert, Kris, Denayer, Ellen, de Ravel, Thomy, Eric, Legius, Baldewijns, Marcella, Aertsen, Michael, Lewi, Liesbeth, De Catte, Luc, Breckpot, Jeroen, Devriendt, Koenraad

Contributors: Clinical sciences, Medical Genetics, Gyneacology-Urology

Source: European Journal of Medical Genetics. 63:103875

Subject Terms: Prenatal Diagnosis/statistics & numerical data, Male, 0301 basic medicine, 0303 health sciences, Genetic Testing/statistics & numerical data, High-Throughput Nucleotide Sequencing/statistics & numerical data, Genetic Diseases, Inborn, High-Throughput Nucleotide Sequencing, Fetus/pathology, Sequence Analysis, DNA, 3. Good health, 03 medical and health sciences, Fetus, Sequence Analysis, DNA/statistics & numerical data, Prenatal Diagnosis, Mutation, Genetic Diseases, Inborn/diagnosis, Humans, Female, Genetic Testing, mutation

Access URL: https://pubmed.ncbi.nlm.nih.gov/32058062
https://www.ncbi.nlm.nih.gov/pubmed/32058062/
https://www.sciencedirect.com/science/article/abs/pii/S1769721219304811
https://biblio.vub.ac.be/vubir/(3627d61a-493e-4c81-9b18-7ddb611e194b).html

A new testing strategy to identify rare variants with either risk or protective effect on disease.

Authors: Ionita-Laza, Iuliana, Buxbaum, Joseph D, Laird, Nan M, Lange, Christoph

Source: PLoS Genetics 7(2), e1001289 (2011). doi:10.1371/journal.pgen.1001289

Subject Terms: info:eu-repo/classification/ddc/610, Algorithms, Computer Simulation, DEAD-box RNA Helicases: genetics, Data Interpretation, Statistical, Diabetes Mellitus, Type 1: genetics, Genetic Predisposition to Disease, Genetic Testing: statistics & numerical data, Genetic Variation, Genome-Wide Association Study: statistics & numerical data, Haplotypes: genetics, Humans, Interferon-Induced Helicase, IFIH1, Risk Factors, Sequence Analysis, DNA, IFIH1 protein, human, DEAD-box RNA Helicases

Subject Geographic: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1553-7390; info:eu-repo/semantics/altIdentifier/issn/1553-7404; info:eu-repo/semantics/altIdentifier/pmid/pmid:21304886; https://pub.dzne.de/record/136182

Availability: https://pub.dzne.de/record/136182
https://pub.dzne.de/search?p=id:%22DZNE-2020-02504%22

Landelijke variatie in moleculaire diagnostiek bij gemetastaseerde longkanker ; National variation in molecular diagnostics in metastatic lung cancer

Authors: Kuijpers, Chantal C.H.J., Van Den Heuvel, Michel M., Overbeek, Lucy I.H., Van Slooten, Henk Jan, Van Lindert, Anne S.R., Damhuis, Ronald A.M., Willems, Stefan M.

Contributors: Pathologie Groep Moelans, Cancer, Onderzoeksgroep 6, Longziekten, Infection & Immunity, Pathologie Pathologen staf

Subject Terms: Aged, Anaplastic Lymphoma Kinase/genetics, Carcinoma, Non-Small-Cell Lung/genetics, ErbB Receptors/genetics, Female, Gene Rearrangement, Genetic Testing/statistics & numerical data, Health Services Misuse, Humans, Lung Neoplasms/genetics, Male, Middle Aged, Molecular Diagnostic Techniques/statistics & numerical data, Mutation, Netherlands, Proto-Oncogene Proteins p21(ras)/genetics, Retrospective Studies, General Medicine, Research Support, Non-U.S. Gov't, Journal Article

File Description: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/374250

Availability: https://dspace.library.uu.nl/handle/1874/374250

Evaluation of BRCA1/2 testing rates in epithelial ovarian cancer patients:lessons learned from real-world clinical data

Authors: Lanjouw, Lieke, Kramer, Claire J H, Elst, Arja Ter, de Bock, Geertruida H, Gaarenstroom, Katja N, Yigit, Refika, Berger, Lieke P V, van Asperen, Christi J, Commandeur-Jan, Sabrina Z, van der Hall, Dimas M X, Jalving, Mathilde, Kagie, Marjolein J, van der Stoep, Nienke, van Wezel, Tom, Mourits, Marian J E, Bosse, Tjalling, Bart, Joost

Source: Lanjouw, L, Kramer, C J H, Elst, A T, de Bock, G H, Gaarenstroom, K N, Yigit, R, Berger, L P V, van Asperen, C J, Commandeur-Jan, S Z, van der Hall, D M X, Jalving, M, Kagie, M J, van der Stoep, N, van Wezel, T, Mourits, M J E, Bosse, T & Bart, J 2025, 'Evaluation of BRCA1/2 testing rates in epithelial ovarian cancer patients : lessons learned from real-world clinical data', Familial Cancer, vol. 24, no. 2, 43.

Index Terms: Humans, Female, Carcinoma, Ovarian Epithelial/genetics, Middle Aged, Ovarian Neoplasms/genetics, Genetic Testing/statistics & numerical data, Netherlands, BRCA2 Protein/genetics, BRCA1 Protein/genetics, Adult, Aged, Germ-Line Mutation, Genetic Predisposition to Disease, Poly(ADP-ribose) Polymerase Inhibitors/therapeutic use, article

URL: https://research.rug.nl/en/publications/e73b141a-e2d7-4a89-a371-347b40d67bd8
https://doi.org/10.1007/s10689-025-00467-7
https://hdl.handle.net/11370/e73b141a-e2d7-4a89-a371-347b40d67bd8
https://pure.rug.nl/ws/files/1302451517/s10689-025-00467-7.pdf
https://www.scopus.com/pages/publications/105004347121
info:eu-repo/semantics/altIdentifier/doi/10.1007/s10689-025-00467-7
info:eu-repo/semantics/altIdentifier/pmid/40323485
info:eu-repo/semantics/altIdentifier/hdl/https://hdl.handle.net/11370/e73b141a-e2d7-4a89-a371-347b40d67bd8
info:eu-repo/semantics/altIdentifier/pissn/1389-9600