المؤلفون: Southey, Melissa C, Goldgar, David E, Winqvist, Robert, Pylkäs, Katri, Couch, Fergus, Tischkowitz, Marc, Foulkes, William D, Dennis, Joe, Michailidou, Kyriaki, van Rensburg, Elizabeth J, Heikkinen, Tuomas, Nevanlinna, Heli, Hopper, John L, Dörk, Thilo, Claes, Kathleen BM, Reis-Filho, Jorge, Teo, Zhi Ling, Radice, Paolo, Catucci, Irene, Peterlongo, Paolo, Tsimiklis, Helen, Odefrey, Fabrice A, Dowty, James G, Schmidt, Marjanka K, Broeks, Annegien, Hogervorst, Frans B, Verhoef, Senno, Carpenter, Jane, Clarke, Christine, Scott, Rodney J, Fasching, Peter A, Haeberle, Lothar, Ekici, Arif B, Beckmann, Matthias W, Peto, Julian, dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Marme, Federik, Burwinkel, Barbara, Yang, Rongxi, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Sanchez, Marie, Bojesen, Stig, Nielsen, Sune F, Flyger, Henrik, Benitez, Javier, Zamora, M Pilar, Perez, Jose Ignacio Arias, Menéndez, Primitiva, Anton-Culver, Hoda, Neuhausen, Susan, Ziogas, Argyrios, Clarke, Christina A, Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V, Antonenkova, Natalia N, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M, Spurdle, Amanda B, Investigators, kConFab, Group, Australian Ovarian Cancer Study, Wauters, Els, Smeets, Dominiek, Beuselinck, Benoit, Floris, Giuseppe, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Olson, Janet E, Vachon, Celine, Pankratz, Vernon S, McLean, Catriona, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick, Le Marchand, Loic, Kristensen, Vessela, Alnæs, Grethe Grenaker, Zheng, Wei

المصدر: Journal of Medical Genetics. 53(12)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Ovarian Cancer, Aging, Breast Cancer, Cancer, Women's Health, Rare Diseases, Prevention, Urologic Diseases, Aetiology, 2.1 Biological and endogenous factors, Ataxia Telangiectasia Mutated Proteins, Breast Neoplasms, Case-Control Studies, Checkpoint Kinase 2, Fanconi Anemia Complementation Group N Protein, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Male, Mutation, Nuclear Proteins, Ovarian Neoplasms, Prostatic Neoplasms, Risk, Tumor Suppressor Proteins, Australian Ovarian Cancer Study Group, Cancer: breast, Cancer: ovary, Cancer: prostate, cancer predisposition, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9gn7b78qTest
https://escholarship.org/content/qt9gn7b78q/qt9gn7b78q.pdfTest

المؤلفون: Stephanie L Greville-Haygate, Emma R. Woodward, D. Gareth Evans, Andrew J Wallace, Helen Byers, Jamie M Ellingford, Fiona Lalloo, Anthony Howell, George J Burghel, Sasha J Howell, Miriam J. Smith, Elaine F. Harkness, William G. Newman, Naomi L. Bowers, Elke M van Veen, Diana Eccles, Sarah J Evans, Marta Pereira

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Oncology, Adult, medicine.medical_specialty, endocrine system diseases, PALB2, Genes, BRCA2, Genes, BRCA1, human genetics, Breast Neoplasms, Disease, genetic testing, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Internal medicine, Cancer Genetics, Medicine, Humans, genetics, Age of Onset, Prospective cohort study, skin and connective tissue diseases, CHEK2, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, DNA, Neoplasm, Sequence Analysis, DNA, Ductal carcinoma, medicine.disease, Genes, p53, Checkpoint Kinase 2, 030104 developmental biology, 030220 oncology & carcinogenesis, Cohort, Mutation, Female, business

وصف الملف: text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74b616e4efac02fce2b44a6198f63f53Test
http://europepmc.org/articles/PMC8788257Test

المؤلفون: Adi Mory, Tamar Paperna, Gili Reznick-Levi, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Miora Feinstien, Lina Basel-Salmon, Nivin Moustafa, Hagit Baris Feldman, Alina Kurolap, Yael Goldberg, Nitzan Sharon-Shwartzman, Elizabeth E. Half, Yishai Ofran, Yariv Carasso

المصدر: Journal of Medical Genetics. 57:500-504

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Protein Conformation, DNA repair, Karyotype, Chromosomal translocation, Translocation, Genetic, Cancer syndrome, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Neoplasms, Chromosome instability, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, CHEK2, Genetics (clinical), Aged, Sanger sequencing, business.industry, Homozygote, Cancer, Middle Aged, medicine.disease, Pedigree, Checkpoint Kinase 2, 030104 developmental biology, 030220 oncology & carcinogenesis, Cancer research, symbols, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06db5d430d18d7663ac5ff325addef4fTest
https://doi.org/10.1136/jmedgenet-2018-105824Test

المؤلفون: Decker, Brennan, Allen, Jamie, Luccarini, Craig, Pooley, Karen A, Shah, Mitul, Bolla, Manjeet K, Wang, Qin, Ahmed, Shahana, Baynes, Caroline, Conroy, Don M, Brown, Judith, Luben, Robert, Ostrander, Elaine A, Pharoah, Paul DP, Dunning, Alison M, Easton, Douglas F

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: Cancer: breast, Genetic Variation, Breast Neoplasms, Ataxia Telangiectasia Mutated Proteins, DNA-Binding Proteins, Checkpoint Kinase 2, Evidence Based Practice, Sequence Analysis, Protein, Genetic Epidemiology, Cancer Genetics, Humans, Female, Genetic Predisposition to Disease, Fanconi Anemia Complementation Group N Protein, Geneticscreening/counselling

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f66a7d8767bcda142e70616465225747Test
http://europepmc.org/articles/PMC5740532Test

المؤلفون: G. H. de Bock, Peter Devilee, J.G.M. Klijn, C. J. Cornelisse, Mieke Schutte, R.A.E.M. Tollenaar, Hanne Meijers-Heijboer, Caroline Seynaeve, J. Blom, C.T.M. Brekelmans, E M M Krol-Warmerdam, C. J. van Asperen

المساهمون: Human Genetics, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Life Course Epidemiology (LCE), Medical Oncology, Clinical Genetics

المصدر: Journal of medical genetics, 41(10), 731-735. BMJ Publishing Group
JOURNAL OF MEDICAL GENETICS, 41(10), 731-735. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 41, 731-735. BMJ Publishing Group

مصطلحات موضوعية: Oncology, Male, HEREDITARY BREAST, endocrine system diseases, SUSCEPTIBILITY, FAMILIES, Cohort Studies, Prospective cohort study, skin and connective tissue diseases, Genetics (clinical), POPULATION, Second-degree relative, Aged, 80 and over, RISK, education.field_of_study, Middle Aged, Prognosis, CARRIERS, CARCINOMAS, SURVIVAL, Original Article, Female, Adult, medicine.medical_specialty, Heterozygote, GENES, Population, Breast Neoplasms, Protein Serine-Threonine Kinases, Breast cancer, SDG 3 - Good Health and Well-being, Median follow-up, Internal medicine, Genetics, medicine, Humans, BRCA2 MUTATIONS, education, CHEK2, Survival analysis, Germ-Line Mutation, Aged, Neoplasm Staging, business.industry, Genetic Variation, medicine.disease, Survival Analysis, Checkpoint Kinase 2, Immunology, Ovarian cancer, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::776418543274609fa6901369f0d24ac6Test
https://pure.eur.nl/en/publications/ba1a800b-9a66-4fc7-aa0c-fcd0bd975859Test

المؤلفون: Dominika Wokołorczyk, Jan Lubinski, Bohdan Górski, Tomasz Huzarski, Anna Jakubowska, Tadeusz Dębniak, Thilo Dörk, Jacek Gronwald, Cezary Cybulski, Steven A. Narod, Pablo Serrano-Fernández, Tomasz Byrski

المصدر: Journal of medical genetics. 46(2)

مصطلحات موضوعية: Oncology, Adult, medicine.medical_specialty, Adolescent, Genotype, Population, Mutation, Missense, Breast Neoplasms, Biology, Protein Serine-Threonine Kinases, Breast cancer, Risk Factors, Internal medicine, Genetics, medicine, Odds Ratio, Missense mutation, Humans, Genetic Predisposition to Disease, Prospective Studies, Risk factor, skin and connective tissue diseases, education, CHEK2, Genetics (clinical), Aged, Aged, 80 and over, education.field_of_study, BRCA1 Protein, Genetic Variation, Odds ratio, Middle Aged, medicine.disease, Checkpoint Kinase 2, Mutation (genetic algorithm), Cancer research, Female, Breast disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::216986caef2868a4617db062b20f063cTest
https://pubmed.ncbi.nlm.nih.gov/18930998Test

المؤلفون: Tomasz Byrski, Cezary Cybulski, Zbigniew Kwias, Andrzej Antczak, Bohdan Górski, Marek Sosnowski, Romuald Zdrojowy, Kazimierz Krajka, Paulina Sikorska-Radek, Małgorzata Stawicka, Robert Klijer, Wojciech Lauer, Jan Lubinski, Dariusz Godlewski, Jacek Gronwald, Dominika Wokołorczyk, Marek Szwiec, Tomasz Huzarski, Steven A. Narod, Andrzej Sikorski, Krzysztof Bar, Bartłomiej Gliniewicz, Anna Jakubowska, Tadeusz Dębniak, Bartłomiej Masojć, Tomasz Borkowski, Bartosz Małkiewicz, Andrzej Borkowski

المصدر: Journal of medical genetics. 43(11)

مصطلحات موضوعية: Male, Genotype, Population, DNA Mutational Analysis, Short Report, Biology, Protein Serine-Threonine Kinases, Familial prostate cancer, Prostate cancer, Germline mutation, Breast cancer, Gene Frequency, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, education, Allele frequency, CHEK2, Genetics (clinical), Germ-Line Mutation, education.field_of_study, Cancer, Prostatic Neoplasms, Exons, medicine.disease, Pedigree, Checkpoint Kinase 2, Cancer research, Poland, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af8109892b3dd7568dd562a562812d40Test
https://pubmed.ncbi.nlm.nih.gov/17085682Test

المؤلفون: Barbara L. Weber, Jian Huang, Susan M. Domchek, Marcia S. Brose, Katherine L. Nathanson, Timothy R. Rebbeck

المصدر: Journal of medical genetics. 41(11)

مصطلحات موضوعية: Adult, Colorectal cancer, DNA Mutational Analysis, Breast Neoplasms, Biology, Protein Serine-Threonine Kinases, Familial prostate cancer, Neoplasms, Multiple Primary, Prostate cancer, Germline mutation, Breast cancer, Gene Frequency, Genetics, medicine, Humans, Genetic Predisposition to Disease, Kinase activity, skin and connective tissue diseases, CHEK2, Genetics (clinical), Germ-Line Mutation, Aged, Sequence Deletion, Cancer, Middle Aged, medicine.disease, Pedigree, Checkpoint Kinase 2, Cancer research, Female, Online Mutation Report

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11f3176ab20553d8faca804a9385351aTest
https://pubmed.ncbi.nlm.nih.gov/15520402Test

المؤلفون: D G R Evans, J M Birch, Steven A. Narod

المصدر: Journal of Medical Genetics. 45:63-64

مصطلحات موضوعية: Proband, Oncology, medicine.medical_specialty, Breast Neoplasms, Protein Serine-Threonine Kinases, Biology, Li-Fraumeni Syndrome, Internal medicine, Genetics, medicine, Humans, Young adult, First-degree relatives, skin and connective tissue diseases, CHEK2, Genetics (clinical), Soft tissue sarcoma, Soft tissue, Cancer, Sarcoma, medicine.disease, Checkpoint Kinase 2, Li–Fraumeni syndrome, Mutation, Immunology, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::273c54258f283d28288c9840dff69b48Test
https://doi.org/10.1136/jmg.2007.054700Test

المؤلفون: Heli Nevanlinna, Pia Vahteristo, Outi Kilpivaara, Lauri A. Aaltonen, Pia Alhopuro

المصدر: Journal of Medical Genetics. 43:e34-e34

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Colorectal cancer, Protein Serine-Threonine Kinases, Biology, Electronic Letter, Bioinformatics, Polymorphism, Single Nucleotide, Risk Assessment, Gene Frequency, Polymorphism (computer science), Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Family history, CHEK2, Allele frequency, Finland, Genetics (clinical), Case-control study, Cancer, medicine.disease, Checkpoint Kinase 2, Case-Control Studies, Restriction fragment length polymorphism, Colorectal Neoplasms, Polymorphism, Restriction Fragment Length

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0e9cd041be9ddc86b02126fe7d6866fTest
https://doi.org/10.1136/jmg.2005.038331Test