المؤلفون: Judith Balmaña, Douglas F. Easton, Adeline Cuggia, Kenneth Offit, Heli Nevanlinna, Judy Garber, Florentia Fostira, Kelly A. Metcalfe, Jana Soukupova, Carlo Tondini, Orland Diez, George Zogopoulos, James Scarth, Marketa Janatova, Tuya Pal, Mark E. Robson, James E. Redman, Laura Ottini, Patrick Concannon, Ann S.G. Lee, Åke Borg, Anders Kvist, Sandra Schneider, Valentina Silvestri, Christoph Engel, Rachel Silva-Smith, Antoine De Pauw, Tu Nguyen-Dumont, Inga Plaskocinska, Katherine L. Nathanson, Hans Ehrencrona, Susan J. Ramus, Rita K. Schmutzler, Craig Luccarini, Mitul Shah, Sophia George, Goska Leslie, Jeffrey N. Weitzel, Irene Konstantopoulou, Carl Blomqvist, William D. Foulkes, Georgia Chenevix-Trench, Marc Tischkowitz, Thomas van Overeem Hansen, Pei Sze Ng, Kathleen Claes, Ellen L. Goode, Olufunmilayo I. Olopade, Sarah M. Nielsen, Andy C. H. Lee, Melissa C. Southey, Ramunas Janavicius, Jill S. Dolinsky, Alfons Meindl, Paolo Peterlongo, Julie O. Culver, Kristiina Aittomäki, Robert Winqvist, Alison H. Trainer, Tuomas Heikkinen, Paolo Radice, David E. Goldgar, Florian Obermair, Marie E. Wood, Jonine L. Bernstein, Sook-Yee Yoon, Paul D.P. Pharoah, Christopher R. Hake, Claude Houdayer, Irene L. Andrulis, Aaron Elliott, Zaki El-Haffaf, Petra Kleiblova, Jukka S. Moilanen, Judith Hurley, Antonis C. Antoniou, Siranoush Manoukian, Fergus J. Couch, Anne-Bine Skytte, Susan L. Neuhausen, Gary Unzeitig, D. Gareth Evans, Eamonn R. Maher, John L. Hopper, Rachel McFarland, James A. G. Whitworth, Judith Penkert, Julian Barwell, Susan M. Domchek, Zdenek Kleibl, Leila Dorling, Lisa Golmard, Peter Ang, Brennan Decker, Cheng Har Yip, Nur Aishah Taib, Vilius Rudaitis, Julian Adlard, Xin Yang, Jamie Allen, Lydia Usha, Francesca Damiola, Amal Yussuf, Katri Pylkäs, Alicja Doroszuk, Eric Hahnen, Muriel A. Adank, Karen A. Pooley, Soo Hwang Teo, Kristie Bobolis, Paul A. James, Alison M. Dunning, Holly LaDuca, Stephen B. Gruber, Wendy McKinnon, Fabienne Lesueur, Lucy Side, Arto Mannermaa, Thomas P. Slavin

المساهمون: Medicum, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, University of Helsinki, HUS Comprehensive Cancer Center, Department of Oncology, Clinicum, Department of Obstetrics and Gynecology, HUS Gynecology and Obstetrics

المصدر: Yang, X, Leslie, G, Doroszuk, A, Schneider, S, Allen, J, Decker, B, Dunning, A M, Redman, J, Scarth, J, Plaskocinska, I, Luccarini, C, Shah, M, Pooley, K, Dorling, L, Leei, A, Adank, M A, Adlard, J, Aittomäki, K, Andrulis, I L, Ang, P, Barwell, J, Bernstein, J L, Bobolis, K, Borg, Å, Blomqvist, C, Claes, K B M, Concannon, P, Cuggia, A, Culver, J O, Damiola, F, De Pauw, A, Diez, O, Dolinsky, J S, Domchek, S M, Engel, C, Evans, D G, Fostira, F, Garber, J, Golmard, L, Goode, E L, Gruber, S B, Hahnen, E, Hake, C, Heikkinen, T, Hurley, J E, Janavicius, R, Kleibl, Z, Kleiblova, P, Konstantopoulou, I, Kvist, A, Laduca, H, Lee, A S G, Lesueur, F, Maher, E R, Mannermaa, A, Manoukian, S, McFarland, R, McKinnon, W, Meindl, A, Metcalfe, K, Taib, N A M, Moilanen, J, Nathanson, K L, Neuhausen, S, Ng, P S, Nguyen-Dumont, T, Nielsen, S M, Obermair, F, Offit, K, Olopade, O I, Ottini, L, Penkert, J, Pylkäs, K, Radice, P, Ramus, S J, Rudaitis, V, Side, L, Silva-Smith, R, Silvestri, V, Skytte, A B, Slavin, T, Soukupova, J, Tondini, C, Trainer, A H, Unzeitig, G, Usha, L, Van Overeem Hansen, T, Whitworth, J, Wood, M, Yip, C H, Yoon, S Y, Yussuf, A, Zogopoulos, G, Goldgar, D, Hopper, J L, Chenevix-Trench, G, Pharoah, P, George, S H L, Balmaña, J, Houdayer, C, James, P, El-Haffaf, Z, Ehrencrona, H, Janatova, M, Peterlongo, P, Nevanlinna, H, Schmutzler, R, Teo, S H, Robson, M, Pal, T, Couch, F, Weitzel, J N, Elliott, A, Southey, M, Winqvist, R, Easton, D F, Foulkes, W D, Antoniou, A C & Tischkowitz, M 2020, ' Cancer risks associated with germline PALB2 pathogenic variants : An international study of 524 families ', Journal of Clinical Oncology, vol. 38, no. 7, pp. 674-685 . https://doi.org/10.1200/JCO.19.01907

مصطلحات موضوعية: 0301 basic medicine, Oncology, PENETRANCE, Cancer Research, medicine.medical_specialty, PALB2, 3122 Cancers, ASCERTAINMENT SAMPLING PROBLEM, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Breast cancer, Prostate, Internal medicine, Pancreatic cancer, HISTORY, medicine, BREAST-CANCER, business.industry, BRCA2-INTERACTING PROTEIN PALB2, Cancer, OVARIAN, medicine.disease, BRCA2, PANCREATIC-CANCER, 3. Good health, SUSCEPTIBILITY GENE-MUTATIONS, 030104 developmental biology, medicine.anatomical_structure, RESOLUTION, 030220 oncology & carcinogenesis, Palb2, pathogenic variants, cancer risk, business, Ovarian cancer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa6efd9d1ddf683873bdcb0c64763fb9
https://doi.org/10.1200/jco.19.01907

المؤلفون: Xin, Yang, Goska, Leslie, Alicja, Doroszuk, Sandra, Schneider, Jamie, Allen, Brennan, Decker, Alison M, Dunning, James, Redman, James, Scarth, Inga, Plaskocinska, Craig, Luccarini, Mitul, Shah, Karen, Pooley, Leila, Dorling, Andrew, Lee, Muriel A, Adank, Julian, Adlard, Kristiina, Aittomäki, Irene L, Andrulis, Peter, Ang, Julian, Barwell, Jonine L, Bernstein, Kristie, Bobolis, Åke, Borg, Carl, Blomqvist, Kathleen B M, Claes, Patrick, Concannon, Adeline, Cuggia, Julie O, Culver, Francesca, Damiola, Antoine, de Pauw, Orland, Diez, Jill S, Dolinsky, Susan M, Domchek, Christoph, Engel, D Gareth, Evans, Florentia, Fostira, Judy, Garber, Lisa, Golmard, Ellen L, Goode, Stephen B, Gruber, Eric, Hahnen, Christopher, Hake, Tuomas, Heikkinen, Judith E, Hurley, Ramunas, Janavicius, Zdenek, Kleibl, Petra, Kleiblova, Irene, Konstantopoulou, Anders, Kvist, Holly, Laduca, Ann S G, Lee, Fabienne, Lesueur, Eamonn R, Maher, Arto, Mannermaa, Siranoush, Manoukian, Rachel, McFarland, Wendy, McKinnon, Alfons, Meindl, Kelly, Metcalfe, Nur Aishah, Mohd Taib, Jukka, Moilanen, Katherine L, Nathanson, Susan, Neuhausen, Pei Sze, Ng, Tu, Nguyen-Dumont, Sarah M, Nielsen, Florian, Obermair, Kenneth, Offit, Olufunmilayo I, Olopade, Laura, Ottini, Judith, Penkert, Katri, Pylkäs, Paolo, Radice, Susan J, Ramus, Vilius, Rudaitis, Lucy, Side, Rachel, Silva-Smith, Valentina, Silvestri, Anne-Bine, Skytte, Thomas, Slavin, Jana, Soukupova, Carlo, Tondini, Alison H, Trainer, Gary, Unzeitig, Lydia, Usha, Thomas, van Overeem Hansen, James, Whitworth, Marie, Wood, Cheng Har, Yip, Sook-Yee, Yoon, Amal, Yussuf, George, Zogopoulos, David, Goldgar, John L, Hopper, Georgia, Chenevix-Trench, Paul, Pharoah, Sophia H L, George, Judith, Balmaña, Claude, Houdayer, Paul, James, Zaki, El-Haffaf, Hans, Ehrencrona, Marketa, Janatova, Paolo, Peterlongo, Heli, Nevanlinna, Rita, Schmutzler, Soo-Hwang, Teo, Mark, Robson, Tuya, Pal, Fergus, Couch, Jeffrey N, Weitzel, Aaron, Elliott, Melissa, Southey, Robert, Winqvist, Douglas F, Easton, William D, Foulkes, Antonis C, Antoniou, Marc, Tischkowitz

المصدر: J Clin Oncol

مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Ovarian Neoplasms, Risk, Internationality, Age Factors, Middle Aged, Breast Neoplasms, Male, Pancreatic Neoplasms, Neoplasms, RAPID COMMUNICATIONS, Humans, Female, Genetic Predisposition to Disease, Fanconi Anemia Complementation Group N Protein, Germ-Line Mutation, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::cf42d4788d5d2d210088fc88878c6fa8
https://pubmed.ncbi.nlm.nih.gov/31841383

المؤلفون: Inga Plaskocinska, Tara Clancy, Marc Tischkowitz, Fiona Lalloo, D. Gareth Evans, Andrew J Wallace, Tony Howell, Emma R. Woodward, Elaine F. Harkness

المصدر: Evans, D, Harkness, E, Plaskocinska, I, Wallace, A, Clancy, T, Woodward, E, Howell, A, Tischkowitz, M & Lalloo, F 2017, ' Pathology update to the Manchester Scoring System based on testing in over 4000 families ', Journal of Medical Genetics, vol. 2017, no. 54 . https://doi.org/10.1136/jmedgenet-2017-104584
University of Manchester-PURE

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Scoring system, Genes, BRCA2, Population, Genes, BRCA1, Breast Neoplasms, 030105 genetics & heredity, Risk Assessment, Sensitivity and Specificity, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Serous ovarian cancer, Humans, Triple negative breast cancer, Genetic Predisposition to Disease, Genetic Testing, education, Genetics (clinical), Triple-negative breast cancer, Ovarian Neoplasms, education.field_of_study, business.industry, Cancer, BRCA1, medicine.disease, BRCA2, High grade serous ovarian cancer, 030220 oncology & carcinogenesis, Mutation, Female, Neoplasm Grading, Manchester scoring system, Ovarian cancer, business

وصف الملف: application/msword

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cbacf73c2e9c1cf9168081ca3410a4d
https://doi.org/10.1136/jmedgenet-2017-104584

المؤلفون: Emma R. Woodward, Marc Tischkowitz, D. Gareth Evans, Eamonn R. Maher, Inga Plaskocinska, Elaine F. Harkness, Fiona Lalloo, Anthony Howell

المساهمون: Evans, D Gareth [0000-0002-8482-5784], Maher, Eamonn R [0000-0002-6226-6918], Apollo - University of Cambridge Repository

المصدر: Evans, D G, Woodward, E, Harkness, E, Howell, A, Plaskocinska, I, Maher, E R, Tischkowitz, M D & Lalloo, F 2018, ' Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk? ', Journal of Medical Genetics, vol. 55, no. 7 . https://doi.org/10.1136/jmedgenet-2017-105223

مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, pre-symptomatic, endocrine system diseases, Penetrance, 0302 clinical medicine, brca1, Breast cancer, brca2, Medicine, Presymptomatic Testing, Family history, skin and connective tissue diseases, Genetics (clinical), Ovarian Neoplasms, medicine.diagnostic_test, BRCA1 Protein, MLH1, Middle Aged, Lynch syndrome, MutS Homolog 2 Protein, 030220 oncology & carcinogenesis, Female, MutL Protein Homolog 1, Adult, medicine.medical_specialty, Breast Neoplasms, Risk Assessment, 03 medical and health sciences, Internal medicine, Genetics, Humans, Genetic Predisposition to Disease, Genetic Testing, neoplasms, Genetic testing, Aged, BRCA2 Protein, business.industry, Cancer, Bayes Theorem, medicine.disease, BRCA1, Colorectal Neoplasms, Hereditary Nonpolyposis, BRCA2, MSH2, 030104 developmental biology, Mutation, business

وصف الملف: application/msword; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfe1baa033b420469977dca060f45660
https://www.research.manchester.ac.uk/portal/en/publications/penetrance-estimates-for-brca1-brca2-also-applied-to-lynch-syndrome-based-on-presymptomatic-testing-a-new-unbiased-method-to-assess-risk(72c358bc-77b1-44e1-ad9a-8acdfc01bb9f).html

المؤلفون: D Gareth, Evans, Emma, Woodward, Elaine F, Harkness, Anthony, Howell, Inga, Plaskocinska, Eamonn R, Maher, Marc D, Tischkowitz, Fiona, Lalloo

المصدر: Journal of medical genetics. 55(7)

مصطلحات موضوعية: Adult, BRCA2 Protein, Male, Ovarian Neoplasms, BRCA1 Protein, Bayes Theorem, Breast Neoplasms, Penetrance, Middle Aged, Colorectal Neoplasms, Hereditary Nonpolyposis, Risk Assessment, MutS Homolog 2 Protein, Mutation, Humans, Female, Genetic Predisposition to Disease, Genetic Testing, MutL Protein Homolog 1, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f1a2ab2a77091adc928def8f0636f0a2
https://pubmed.ncbi.nlm.nih.gov/29483236

المؤلفون: Suzanne Miller, Charlotte Hodgkin, Timothy Duncan, Rita W Y Ng, Gurdeep S. Sagoo, Vanessa Buchanan, Christine Parkinson, Hayley Webb, Helena M. Earl, Sarah Ayers, Elisa Barter, Nicholas J. Hulbert-Williams, Inga Plaskocinska, Barnaby Rufford, Paul D.P. Pharoah, Barbara Newcombe, Mercedes Jimenez-Linan, Victoria Licence, James Drummond, Adela Dann, Stephen Abbs, Robin Crawford, Li Tee Tan, Hannah Shipman, James D. Brenton, Edward Thompson, Marc Tischkowitz, Margaret Daly, Paul Ridley

المساهمون: Hodgkin, Charlotte [0000-0002-2240-1740], Earl, Helena [0000-0003-1549-8094], Pharoah, Paul [0000-0001-8494-732X], Brenton, James [0000-0002-5738-6683], Tischkowitz, Marc [0000-0002-7880-0628], Apollo - University of Cambridge Repository

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Oncology, Adult, medicine.medical_specialty, endocrine system diseases, Genetic counseling, Genetic screening/counselling, 030105 genetics & heredity, Carcinoma, Ovarian Epithelial, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Internal medicine, Obstetrics and Gynaecology, Genetics, medicine, Cancer Genetics, Humans, Genetic Predisposition to Disease, Genetic Testing, Neoplasms, Glandular and Epithelial, Clinical genetics, Family history, Genetics (clinical), Depression (differential diagnoses), Germ-Line Mutation, Genetic testing, Aged, Aged, 80 and over, BRCA2 Protein, Ovarian Neoplasms, medicine.diagnostic_test, business.industry, BRCA1 Protein, Cancer, Middle Aged, medicine.disease, 3. Good health, Distress, 030220 oncology & carcinogenesis, Female, Ovarian cancer, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f6e8cf336725985f3fb0c60592e95f4
https://pubmed.ncbi.nlm.nih.gov/27208206