Výsledky vyhľadávania - "Breast Neoplasms/genetics"

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

Autori: Aleksandar M. Kostov Maj-Britt Jensen Bent Ejlertsen a ďalší

Zdroj: 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

Predmety: 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

Popis súboru: application/pdf

Prístupová URL adresa: 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

Multi-transcriptomics predicts clinical outcome in systemically untreated breast cancer patients with extensive follow-up

Autori: Do, Thi T N Block, Ines Burton, Mark a ďalší

Zdroj: Breast Cancer Res

Predmety: Adult, Neoplastic, Research, Breast Neoplasms/genetics, Middle Aged, Prognosis, Local/genetics, MicroRNAs/genetics, Long Noncoding/genetics, Neoplasm Recurrence, Gene Expression Regulation, Tumor/genetics, Humans, RNA, Messenger/genetics, Female, Gene Expression Profiling/methods, Transcriptome, Biomarkers, Follow-Up Studies, Aged

Prístupová URL adresa: https://portal.findresearcher.sdu.dk/da/publications/2e736cc8-0904-481b-98d7-dd61acef996d
https://doi.org/10.1186/s13058-025-02061-2

The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023–2024): overview after first year of implementation (2023-2024)

Autori: Bethany Torr Nicola Bell Ruth McCarthy a ďalší

Zdroj: J Med Genet
Torr, B, Bell, N, McCarthy, R, Hamill, M, Nolan, J, Muralidharan, S, Andrews, C, Valganon-Petrizan, M, Clinch, Y, MacMahon, S, Morilla, A, George, A, Ryves, P, Dasani, P, Adegoroye, M, Schlecht, H, Burghel, G J, Ornadel, W, Gordon, N, Steele, L, Lukic, S, Watts, E, Evans, D G, Manchanda, R & Turnbull, C 2025, 'The NHS England Jewish BRCA Testing Programme : overview after first year of implementation (2023-2024)', Journal of Medical Genetics, vol. 62, no. 2, pp. 69-73. https://doi.org/10.1136/jmg-2024-110390

Predmety: Male, Adult, 0301 basic medicine, 0303 health sciences, Genetic Counseling, Middle Aged, Breast Neoplasms/genetics, BRCA2 Protein/genetics, Germ-Line Mutation/genetics, 03 medical and health sciences, Jews/genetics, Cancer Genetics, Humans, BRCA1 Protein/genetics, Female, Genetic Predisposition to Disease, England/epidemiology, Genetic Testing/methods, Aged

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39715636
https://research.manchester.ac.uk/en/publications/2fa5d28f-5b3c-4c98-8293-a6989cfdf00e
https://doi.org/10.1136/jmg-2024-110390

Are Women’s Breast Cancer Risk Appraisals in Line with Updated Clinical Risk Estimates Communicated? Results from a UK Family History Risk and Prevention Clinic: Results from a UK Family History Risk and Prevention Clinic

Autori: Victoria G. Woof Anthony Howell Lynne Fox a ďalší

Zdroj: Cancer Epidemiol Biomarkers Prev
Woof, V G, Howell, A, Fox, L, McWilliams, L, Evans, D G R & French, D P 2024, 'Are Women's Breast Cancer Risk Appraisals in Line with Updated Clinical Risk Estimates Communicated? Results from a UK Family History Risk and Prevention Clinic', Cancer Epidemiology, Biomarkers & Prevention, vol. 33, no. 12, pp. 1671-1677. https://doi.org/10.1158/1055-9965.epi-24-0581

Predmety: Adult, United Kingdom/epidemiology, Communication, Breast Neoplasms, Breast Neoplasms/genetics, Middle Aged, Risk Assessment, Article, United Kingdom, Risk Factors, Surveys and Questionnaires, Humans, Female, Genetic Predisposition to Disease, Risk Assessment/methods, Aged, Breast Density

Popis súboru: application/vnd.openxmlformats-officedocument.wordprocessingml.document

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39356295
https://research.manchester.ac.uk/en/publications/1fb3eca1-a783-4144-9a7d-4361bb1a36d1
https://doi.org/10.1158/1055-9965.epi-24-0581
https://research.manchester.ac.uk/en/publications/1fb3eca1-a783-4144-9a7d-4361bb1a36d1
https://doi.org/10.1158/1055-9965.epi-24-0581
https://pure.manchester.ac.uk/ws/files/340162139/Woof_et_al_Manuscript_30.08.24.docx

Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing

Autori: Rowlands, CF Allen, S Balmaña, J a ďalší

Prispievatelia: Rowlands, CF Allen, S Balmaña, J a ďalší

Zdroj: Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Annals of Oncology, 35, 10, pp. 892-901
Allen, S, Balmaña, J, Domchek, S M, Evans, D G, Hoogerbrugge, N, Nathanson, K L, Tischkowitz, M, Foulkes, W D & Turnbull, C 2024, 'Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing', Annals of oncology : official journal of the European Society for Medical Oncology, vol. 35, no. 10, pp. 892-901. https://doi.org/10.1016/j.annonc.2024.07.244

Predmety: Other subheadings::Other subheadings::Other subheadings::/genetics, Ubiquitin-Protein Ligases, Breast Neoplasms, Ataxia Telangiectasia Mutated Proteins, Breast Neoplasms/genetics, Checkpoint Kinase 2/genetics, breast cancer, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing, Ataxia Telangiectasia Mutated Proteins/genetics, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Humans, Genetic Predisposition to Disease, Ubiquitin-Protein Ligases/genetics, Genetic Testing, Germ-Line Mutation, Genetic Association Studies, BRCA2 Protein, BRCA1 Protein, Tumor Suppressor Proteins, mainstream genetic testing, Cromosomes humans - Anomalies - Diagnòstic, Fanconi Anemia Complementation Group N Protein/genetics, BRCA2 Protein/genetics, 3. Good health, DNA-Binding Proteins, Meta-analysis, Checkpoint Kinase 2, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas, Case-Control Studies, multi-gene panel testing, BRCA1 Protein/genetics, Mama - Càncer - Aspectes genètics, Human Genetics - Radboud University Medical Center, Female, Fanconi Anemia Complementation Group N Protein, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama, case-control, DNA-Binding Proteins/genetics, Genetic Testing/methods, DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms

Popis súboru: application/pdf; Print-Electronic

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38986768
https://hdl.handle.net/11351/11965
https://research.manchester.ac.uk/en/publications/590e571d-7ad9-4fb3-b723-57aaa7277a35
https://doi.org/10.1016/j.annonc.2024.07.244
https://repository.ubn.ru.nl/handle/2066/310405
https://repository.ubn.ru.nl//bitstream/handle/2066/310405/310405.pdf
https://research.manchester.ac.uk/en/publications/590e571d-7ad9-4fb3-b723-57aaa7277a35
http://www.scopus.com/inward/record.url?scp=85201586788&partnerID=8YFLogxK
https://doi.org/10.1016/j.annonc.2024.07.244

Testing of rapid evaporative mass spectrometry for histological tissue classification and molecular diagnostics in a multi-site study

Autori: Martin Kaufmann Pierre-Maxence Vaysse Adele Savage a ďalší

Zdroj: Br J Cancer

Predmety: Female [MeSH], Mutation [MeSH], 631/1647/296, Breast Neoplasms/classification [MeSH], Humans [MeSH], Breast Neoplasms/genetics [MeSH], 692/53/2421, Pathology, Molecular/methods [MeSH], Carcinoma, Ductal, Breast/classification [MeSH], Article, Carcinoma, Ductal, Breast/genetics [MeSH], Class I Phosphatidylinositol 3-Kinases/genetics [MeSH], Breast Neoplasms/diagnosis [MeSH], Mass Spectrometry/methods [MeSH], Carcinoma, Ductal, Breast/diagnosis [MeSH], Carcinoma, Ductal, Breast/pathology [MeSH], Breast Neoplasms/pathology [MeSH], article, 631/92/608, LIPID-METABOLISM, IDENTIFICATION, HUMAN BREAST-CANCER, Class I Phosphatidylinositol 3-Kinases, Mutation, Carcinoma, Ductal, Breast, Humans, Breast Neoplasms, Female, Pathology, Molecular, Mass Spectrometry

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39294437
https://repository.publisso.de/resource/frl:6493866

BRCA-mutated breast cancer: the unmet need, challenges and therapeutic benefits of genetic testing

Autori: Banu Arun Fergus J. Couch Jean Abraham a ďalší

Prispievatelia: Banu Arun Fergus J. Couch Jean Abraham a ďalší

Zdroj: Br J Cancer

Predmety: BRCA2 Protein, 0301 basic medicine, 631/67/1347, BRCA2 Protein/genetics [MeSH], Female [MeSH], BRCA1 Protein/genetics [MeSH], Humans [MeSH], Breast Neoplasms/genetics [MeSH], Genes, BRCA1 [MeSH], Genes, BRCA2 [MeSH], Breast Neoplasms/drug therapy [MeSH], Poly(ADP-ribose) Polymerase Inhibitors/therapeutic use [MeSH], Review Article, 692/4028/67/1347, Germ-Line Mutation [MeSH], review-article, Genetic Testing/methods [MeSH], BRCA1 Protein, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Poly(ADP-ribose) Polymerase Inhibitors, 03 medical and health sciences, 0302 clinical medicine, Humans, Female, Genetic Testing, Germ-Line Mutation

Popis súboru: application/pdf; text/xml

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39215191
https://repository.publisso.de/resource/frl:6503287
https://www.repository.cam.ac.uk/handle/1810/375565
https://doi.org/10.1038/s41416-024-02827-z

Aberrant p53 immunostaining patterns in breast carcinoma of no special type strongly correlate with presence and type of TP53 mutations

Autori: Hannes Armbruster Tilman Schotte Isabell Götting a ďalší

Zdroj: Virchows Arch

Predmety: Adult, Aged, 80 and over, 0301 basic medicine, Female [MeSH], Immunohistochemistry, Mutation [MeSH], Aged, 80 and over [MeSH], P53, Aged [MeSH], Adult [MeSH], Receptor, ErbB-2/metabolism [MeSH], Humans [MeSH], Breast Neoplasms/genetics [MeSH], Breast cancer, Receptor, ErbB-2/genetics [MeSH], Middle Aged [MeSH], Tumor Suppressor Protein p53/genetics [MeSH], DNA Mutational Analysis [MeSH], Receptor, ErbB-2/analysis [MeSH], Immunohistochemistry [MeSH], Original Article, NGS, Tumor Suppressor Protein p53/analysis [MeSH], Class I Phosphatidylinositol 3-Kinases/genetics [MeSH], Biomarkers, Tumor/genetics [MeSH], Biomarkers, Tumor/analysis [MeSH], Breast Neoplasms/pathology [MeSH], Class I Phosphatidylinositol 3-Kinases, Receptor, ErbB-2, DNA Mutational Analysis, Breast Neoplasms, Middle Aged, 03 medical and health sciences, 0302 clinical medicine, Mutation, Biomarkers, Tumor, Humans, Female, Tumor Suppressor Protein p53, Aged

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39191994
https://repository.publisso.de/resource/frl:6495453

FBLN2 is associated with basal cell markers Krt14 and ITGB1 in mouse mammary epithelial cells and has a preferential expression in molecular subtypes of human breast cancer

Autori: Walyeldeen, Amr Ahmed Sabet, Salwa Anis, Shady E. a ďalší

Zdroj: Breast Cancer Res Treat

Predmety: 0301 basic medicine, Extracellular Matrix Proteins, 0303 health sciences, ECM, 600 Technik, Medizin, angewandte Wissenschaften::630 Landwirtschaft::630 Landwirtschaft und verwandte Bereiche, Molecular subtypes, Research, Fibulin-2, Calcium-Binding Proteins, Keratin-14, Basal, Breast Neoplasms, Epithelial Cells, Gene Expression Regulation, Neoplastic [MeSH], Cell Line, Tumor [MeSH], Keratin-14/metabolism [MeSH], Extracellular Matrix Proteins/genetics [MeSH], Breast cancer, Mammary Glands, Animal/pathology [MeSH], Epithelial Cells/metabolism [MeSH], Keratin-14/genetics [MeSH], Mammary Glands, Animal/metabolism [MeSH], Calcium-Binding Proteins/metabolism [MeSH], Extracellular Matrix Proteins/metabolism [MeSH], Epithelial Cells/pathology [MeSH], Breast Neoplasms/pathology [MeSH], Female [MeSH], Humans [MeSH], Breast Neoplasms/genetics [MeSH], Breast Neoplasms/metabolism [MeSH], Animals [MeSH], Calcium-Binding Proteins/genetics [MeSH], Mice [MeSH], Biomarkers, Tumor/metabolism [MeSH], Biomarkers, Tumor/genetics [MeSH], Gene Expression Regulation, Neoplastic, Mice, 03 medical and health sciences, Mammary Glands, Animal, Cell Line, Tumor, Biomarkers, Tumor, Animals, Humans, Female

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39110274
https://repository.publisso.de/resource/frl:6513214

The class II myosin MYH4 safeguards genome integrity and suppresses tumor progression

Autori: Jayashree Thatte Ana Moisés da Silva Judit Börcsök a ďalší

Zdroj: J Clin Invest
Thatte, J, Moisés da Silva, A, Börcsök, J, Gudjónsson, T, Benada, J, Li, X, Bose, M, van der Gulden, H, Song, J-Y, Menezes, R, Martín-Doncel, E, Toledo, L, Petrosius, V, Brakebusch, C, Jonkers, J, Nielsen, F C, Rossing, M & Sørensen, C S 2025, ' The class II myosin MYH4 safeguards genome integrity and suppresses tumor progression ', The Journal of Clinical Investigation, vol. 135, no. 11, e188165 . https://doi.org/10.1172/JCI188165

Predmety: DNA Replication, Mice, Knockout, Mice, Myosin Heavy Chains/genetics, Neoplasm Proteins/genetics, Animals, Humans, Female, Tumor Suppressor Protein p53/genetics, Breast Neoplasms/genetics, Genomic Instability, Research Article

Popis súboru: application/pdf

Prístupová URL adresa: https://curis.ku.dk/ws/files/453002350/188165.1-20250528220057-covered-e0fd13ba177f913fd3156f593ead4cfd.pdf

Transcriptome analysis of archived tumors by Visium, GeoMx DSP, and Chromium reveals patient heterogeneity

Autori: Yixing Dong Chiara Saglietti Quentin Bayard a ďalší

Zdroj: Nat Commun
Nature Communications, Vol 16, Iss 1, Pp 1-18 (2025)
Nature communications, vol. 16, no. 1, pp. 4400

Predmety: Paraffin Embedding, Lung Neoplasms, Humans, Gene Expression Profiling/methods, Neoplasms/genetics, Transcriptome, Female, Breast Neoplasms/genetics, Lung Neoplasms/genetics, Science, Gene Expression Profiling, Neoplasms, Breast Neoplasms, Article

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/40355415
https://doaj.org/article/e63c8c51df484be4b26b236ff5fc5c30
https://serval.unil.ch/notice/serval:BIB_3C48B807E321
https://serval.unil.ch/resource/serval:BIB_3C48B807E321.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_3C48B807E3217

Epigenomic disorder and partial EMT impair luminal progenitor integrity in Brca1-associated breast tumorigenesis

Autori: Landragin, Camille Saichi, Melissa Laisné, Marthe a ďalší

Prispievatelia: Landragin, Camille Saichi, Melissa Laisné, Marthe a ďalší

Zdroj: Mol Cancer
Molecular Cancer, Vol 24, Iss 1, Pp 1-18 (2025)
Molecular cancer, vol. 24, no. 1, pp. 127

Predmety: Epigenomics, Epithelial-Mesenchymal Transition, BRCA1 Protein, Carcinogenesis, Research, Humans, BRCA1 Protein/genetics, BRCA1 Protein/metabolism, Female, Epithelial-Mesenchymal Transition/genetics, Breast Neoplasms/genetics, Breast Neoplasms/pathology, Breast Neoplasms/metabolism, Animals, Mice, Carcinogenesis/genetics, Epigenomics/methods, Mutation, Cell Transformation, Neoplastic/genetics, Gene Expression Regulation, Neoplastic, Neoplastic Stem Cells/metabolism, Neoplastic Stem Cells/pathology, Tumor Microenvironment, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Breast Neoplasms, [SDV.GEN] Life Sciences [q-bio]/Genetics, [SDV] Life Sciences [q-bio], Cell Transformation, Neoplastic, [SDV.CAN] Life Sciences [q-bio]/Cancer, Neoplastic Stem Cells, RC254-282

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/40289099
https://doaj.org/article/9577a552c5f9402794c0a44a5434e8f7
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7DF1ACD126EB3
https://serval.unil.ch/notice/serval:BIB_7DF1ACD126EB
https://serval.unil.ch/resource/serval:BIB_7DF1ACD126EB.P001/REF.pdf

G6PC3 promotes genome maintenance and is a candidate mammary tumor suppressor

Autori: Xin Li Maria Rossing Ana Moisés da Silva a ďalší

Zdroj: JCI Insight
Li, X, Rossing, M, Moisés da Silva, A, Bose, M, Gudjónsson, T, Benada, J, Thatte, J, Johansen, J V, Börcsök, J, van der Gulden, H, Song, J-Y, Menezes, R, Tajik, A, Sena, L, Szallasi, Z, Frödin, M, Jonkers, J, Nielsen, F C & Sørensen, C S 2025, ' G6PC3 promotes genome maintenance and is a candidate mammary tumor suppressor ', JCI insight, vol. 10, no. 11 . https://doi.org/10.1172/jci.insight.186747

Predmety: Mice, Recombinational DNA Repair/genetics, Humans, Animals, BRCA1 Protein/genetics, Female, DNA Breaks, Double-Stranded, Tumor Suppressor Protein p53/genetics, Breast Neoplasms/genetics, Germ-Line Mutation, Genomic Instability, Research Article

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/40261702
https://curis.ku.dk/ws/files/454317117/186747.2-20250527155028-covered-e0fd13ba177f913fd3156f593ead4cfd.pdf

Precision screening facilitates clinical classification of BRCA2-PALB2 binding variants with benign and pathogenic functional effects

Autori: Bose, Muthiah Singh, Manika Indrajit Frödin, Morten a ďalší

Zdroj: J Clin Invest
Bose, M, Singh, M I, Frödin, M, Ejlertsen, B, Sørensen, C S & Rossing, M 2025, ' Precision screening facilitates clinical classification of BRCA2-PALB2 binding variants with benign and pathogenic functional effects ', The Journal of Clinical Investigation, vol. 135, no. 12 . https://doi.org/10.1172/JCI181879

Predmety: Ovarian Neoplasms/genetics, Humans, Female, Genetic Testing, Breast Neoplasms/genetics, Precision Medicine, Fanconi Anemia Complementation Group N Protein/genetics, Clinical Research and Public Health, BRCA2 Protein/genetics

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/40232841
https://curis.ku.dk/ws/files/454318753/181879.2-20250603075635-covered-e0fd13ba177f913fd3156f593ead4cfd.pdf

Loss of Kmt2c or Kmt2d drives brain metastasis via KDM6A-dependent upregulation of MMP3

Autori: Seehawer, Marco Li, Zheqi Nishida, Jun a ďalší

Prispievatelia: Seehawer, Marco Li, Zheqi Nishida, Jun a ďalší

Zdroj: Nat Cell Biol

Predmety: 0301 basic medicine, KMT2C protein, human, Oncologie, Triple Negative Breast Neoplasms/pathology, Triple Negative Breast Neoplasms, Histone-Lysine N-Methyltransferase/genetics, Sciences de la santé humaine, Article, Epigenesis, Genetic, Mice, 03 medical and health sciences, Neoplasm Proteins/genetics, KMT2D protein, human, Cell Line, Tumor, Matrix Metalloproteinase 3/metabolism, Neoplasm Proteins/metabolism, Animals, Humans, Human health sciences, Histone-Lysine N-Methyltransferase/metabolism, Brain Neoplasms/genetics, Histone Demethylases, Mice, Knockout, 0303 health sciences, DNA-Binding Proteins/metabolism, Brain Neoplasms, KDM6A protein, human, Cell Biology, Histone-Lysine N-Methyltransferase, Kmt2d protein, mouse, MMP3 protein, human, Up-Regulation, Neoplasm Proteins, Gene Expression Regulation, Neoplastic, DNA-Binding Proteins, Oncology, Triple Negative Breast Neoplasms/metabolism, Brain Neoplasms/pathology, Histone Demethylases/genetics, Brain Neoplasms/secondary, Matrix Metalloproteinase 3, Female, Histone Demethylases/metabolism, Triple Negative Breast Neoplasms/genetics, Matrix Metalloproteinase 3/genetics, DNA-Binding Proteins/genetics, Myeloid-Lymphoid Leukemia Protein, Brain Neoplasms/metabolism

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38926506

The REMAR (Rhein-Main-Registry) real-world study: prospective evaluation of the 21-gene breast recurrence score® assay in addition to Ki-67 for adjuvant treatment decisions in early-stage breast cancer

Autori: Christian Jackisch Louiza Anastasiadou Sebastian Aulmann a ďalší

Zdroj: Breast Cancer Res Treat

Predmety: Adult, Aged, 80 and over, 0301 basic medicine, Gene Expression Profiling, Clinical Decision-Making, Breast Neoplasms, Middle Aged, Prognosis, Clinical Trial, Risk Assessment, Clinical Decision-Making [MeSH], Aged, 80 and over [MeSH], Aged [MeSH], Breast cancer, Neoplasm Recurrence, Local/pathology [MeSH], Breast Neoplasms/therapy [MeSH], Neoplasm Staging [MeSH], 21-gene assay, Adjuvant treatment, Neoplasm Recurrence, Local/genetics [MeSH], Ki-67 Antigen/metabolism [MeSH], Chemotherapy, Adjuvant/methods [MeSH], Biomarkers, Tumor [MeSH], Risk Assessment/methods [MeSH], Registry, Breast Neoplasms/pathology [MeSH], Female [MeSH], Recurrence Score, Adult [MeSH], Humans [MeSH], Prospective Studies [MeSH], Breast Neoplasms/genetics [MeSH], Breast Neoplasms/drug therapy [MeSH], Breast Neoplasms/metabolism [MeSH], Middle Aged [MeSH], Prognosis [MeSH], Gene Expression Profiling/methods [MeSH], Ki-67, Registries [MeSH], 03 medical and health sciences, Ki-67 Antigen, 0302 clinical medicine, Chemotherapy, Adjuvant, Biomarkers, Tumor, Humans, Female, Prospective Studies, Registries, Neoplasm Recurrence, Local, Aged, Neoplasm Staging

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38874685
https://repository.publisso.de/resource/frl:6518260

Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practice

Autori: Olga Tsoulaki Marc Tischkowitz Antonis C. Antoniou a ďalší

Prispievatelia: Olga Tsoulaki Marc Tischkowitz Antonis C. Antoniou a ďalší

Zdroj: Br J Cancer

Predmety: Consensus, Consensus Statement, Breast Neoplasms, Genetic Counseling, Genetic Testing/standards, Risk Assessment, United Kingdom, 3. Good health, Humans, Female, Genetic Predisposition to Disease, Breast Neoplasms/genetics, Genetic Testing, Risk Assessment/methods, Algorithms

Popis súboru: application/zip; text/xml; application/pdf; text; Print-Electronic

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38834743
https://www.repository.cam.ac.uk/handle/1810/369813
https://doi.org/10.1038/s41416-024-02733-4

Evolution of publicly available large language models for complex decision-making in breast cancer care

Autori: Sebastian Griewing Johannes Knitza Jelena Boekhoff a ďalší

Zdroj: Arch Gynecol Obstet

Predmety: ddc:610, 03 medical and health sciences, 0302 clinical medicine, Clinical Decision-Making, Humans, Female, Breast Neoplasms, Gynecologic Oncology, Large language models, Clinical Decision-Making [MeSH], Female [MeSH], ChatGPT, Humans [MeSH], Breast Neoplasms/genetics [MeSH], Breast cancer, Artificial intelligence, Breast Neoplasms/therapy [MeSH], Decision Support Techniques [MeSH], Tumor board, Decision Support Techniques, 3. Good health

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38806945
https://repository.publisso.de/resource/frl:6517977

BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial: a randomised, non-inferiority trial

Autori: B. Torr C. Jones G. Kavanaugh a ďalší

Prispievatelia: B. Torr C. Jones G. Kavanaugh a ďalší

Zdroj: Br J Cancer
Torr, B, Kavanaugh, G, Hamill, M, Allen, S, Choi, S, Garrett, A, Valganon-Petrizan, M, MacMahon, S, Yuan, L, Way, R, Harder, H, Gold, R, Taylor, A, Gabe, R, Lucassen, A, Manchanda, R, Fallowfield, L, Jenkins, V, Gandhi, A, Evans, D G, George, A, Hubank, M, Kemp, Z, Bremner, S & Turnbull, C 2024, 'BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting : a randomised, non-inferiority trial', British Journal of Cancer, vol. 131, no. 9, pp. 1506-1515. https://doi.org/10.1038/s41416-024-02832-2

Predmety: Adult, BRCA2 Protein, BRCA1 Protein, Genetic Counseling/methods, Breast Neoplasms, Genetic Counseling, Breast Neoplasms/genetics, Middle Aged, BRCA2 Protein/genetics, Article, United Kingdom, BRCA1 Protein/genetics, Humans, Female, Genetic Predisposition to Disease, Genetic Testing, Genetic Testing/methods, Germ-Line Mutation, Aged

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39349619
https://ora.ox.ac.uk/objects/uuid:8aeb0fcc-b280-490d-9b0d-04677715d15b
https://doi.org/10.1038/s41416-024-02832-2

Validation of the BOADICEA model in a prospective cohort ofBRCA1/2pathogenic variant carriers

Autori: Yang, Xin Mooij, Thea M Leslie, Goska a ďalší

Prispievatelia: Yang, Xin Mooij, Thea M Leslie, Goska a ďalší

Zdroj: J Med Genet
Journal of Medical Genetics, 61, 8, pp. 803-809
Yang, X, Mooij, T M, Leslie, G, Ficorella, L, Andrieu, N, Kast, K, Singer, C F, Jakubowska, A, van Gils, C H, Tan, Y Y, Engel, C, Adank, M A, van Asperen, C J, Ausems, M G E M, Berthet, P, Collee, M J, Cook, J A, Eason, J, van Spaendonck-Zwarts, K Y, Evans, D G, Gómez-García, E B, Hanson, H, Izatt, L, Kemp, Z, Lalloo, F, Lasset, C, Lesueur, F, Musgrave, H, Nambot, S, Noguès, C, Oosterwijk, J C, Stoppa-Lyonnet, D, Tischkowitz, M, Tripathi, V, Wevers, M R, Zhao, E, van Leeuwen, F E, Schmidt, M K, Easton, D F, Rookus, M A & Antoniou, A C 2024, 'Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers', Journal of Medical Genetics. https://doi.org/10.1136/jmg-2024-109943

Predmety: Adult, Heterozygote, Breast Neoplasms, Genetic Counseling, Breast Neoplasms/genetics, Risk Assessment, Polymorphism, Single Nucleotide, Risk Factors, Genetics, Journal Article, Cancer Genetics, Humans, Genetics(clinical), Genetic Predisposition to Disease, Prospective Studies, Polymorphism, 10. No inequality, BRCA2 Protein, BRCA1 Protein, Middle Aged, 16. Peace & justice, BRCA2 Protein/genetics, 3. Good health, [SDV] Life Sciences [q-bio], Early Diagnosis, BRCA1 Protein/genetics, Women's Health, Human Genetics - Radboud University Medical Center, Female, Public Health, Single Nucleotide/genetics

Popis súboru: application/pdf; text/xml

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38834293
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/310608
https://doi.org/10.1136/jmg-2024-109943
https://research.manchester.ac.uk/en/publications/9d54a0eb-69fd-4f1e-95da-6fd263c6be84
https://doi.org/10.1136/jmg-2024-109943
https://research.rug.nl/en/publications/734c0554-5e3b-43ee-b7d7-74b363130169
https://hdl.handle.net/11370/734c0554-5e3b-43ee-b7d7-74b363130169
https://doi.org/10.1136/jmg-2024-109943
https://cris.maastrichtuniversity.nl/en/publications/d81505b4-ac86-45cf-a9cb-19a1916ff17b
https://doi.org/10.1136/jmg-2024-109943
https://dspace.library.uu.nl/handle/1874/454622
https://hdl.handle.net/1887/4239244
https://repository.ubn.ru.nl//bitstream/handle/2066/310608/310608.pdf
https://repository.ubn.ru.nl/handle/2066/310608
https://pure.manchester.ac.uk/ws/files/319412113/jmg-2024-109943.full.pdf
https://research.manchester.ac.uk/en/publications/9d54a0eb-69fd-4f1e-95da-6fd263c6be84
https://doi.org/10.1136/jmg-2024-109943
https://www.repository.cam.ac.uk/handle/1810/369494
https://doi.org/10.1136/jmg-2024-109943
https://www.repository.cam.ac.uk/handle/1810/368207
https://doi.org/10.17863/cam.108520
https://doi.org/10.1136/jmg-2024-109943