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1دورية أكاديمية
المؤلفون: Nicholas A. Borja, Rachel Silva-Smith, Marilyn Huang, Dipen J. Parekh, Daniel Sussman, Mustafa Tekin
المصدر: Frontiers in Oncology, Vol 13 (2023)
مصطلحات موضوعية: ATM, ataxia-telangiectasia mutated (ATM), germline, pathogenic variant (PV), hereditary cancer, cancer susceptibility association, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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2دورية أكاديمية
المصدر: Gynecologic Oncology Reports, Vol 17, Iss C, Pp 93-95 (2016)
مصطلحات موضوعية: PALB2, BRIP1, Primary Peritoneal Carcinoma, Low-grade serous carcinoma, Gynecology and obstetrics, RG1-991, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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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 -
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المؤلفون: Sofia Palacio, Gina Wideroff, Daniel A. Sussman, Peter J. Hosein, Robert A. Ali, Caio M.S.R. Lima, Talia Donenberg, Hannah S. McMurry, Rachel Silva-Smith
المصدر: Journal of Gastrointestinal Oncology. 10:1133-1139
مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Chemotherapy, medicine.diagnostic_test, FOLFIRINOX, DNA repair, business.industry, Somatic cell, Short Communication, medicine.medical_treatment, Gastroenterology, Germline, body regions, 03 medical and health sciences, Regimen, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Internal medicine, medicine, Progression-free survival, business, Genetic testing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79856b91bdc67bf29d4e5bcb41a644e0
https://doi.org/10.21037/jgo.2019.09.12 -
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المؤلفون: Kayla Fourzali, Dipen J. Parekh, Talia Donenberg, Nicolette C. Vassallo, Priyen M. Patel, Susan H. Blanton, Irman Forghani, Jessica D. Leuchter, Rachel Silva-Smith
المصدر: American journal of medical genetics. Part AREFERENCES. 185(10)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Referral, Genetic counseling, Genetic Counseling, Guidelines as Topic, 030105 genetics & heredity, Hereditary Renal Cell Carcinoma, 03 medical and health sciences, Renal cell carcinoma, Internal medicine, Genetics, Medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Carcinoma, Renal Cell, Genetics (clinical), Societies, Medical, Genetic testing, Aged, medicine.diagnostic_test, business.industry, Miami, Middle Aged, medicine.disease, United States, 030104 developmental biology, Medical genetics, Female, business, Kidney cancer
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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 -
7Co-occurrence of Lynch syndrome and juvenile polyposis syndrome confirmed by multigene panel testing
المؤلفون: Rachel Silva-Smith, Daniel A. Sussman
المصدر: Familial Cancer. 17:87-90
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Cancer Research, Colorectal cancer, DNA Mutational Analysis, Biology, Neoplasms, Multiple Primary, 03 medical and health sciences, 0302 clinical medicine, Neoplastic Syndromes, Hereditary, Genetics, medicine, PMS2, Humans, Genetic Predisposition to Disease, Juvenile polyposis syndrome, Genetic Testing, Bone Morphogenetic Protein Receptors, Type I, Genetics (clinical), Mismatch Repair Endonuclease PMS2, Genetic testing, medicine.diagnostic_test, Intestinal Polyposis, High-Throughput Nucleotide Sequencing, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, BMPR1A, Lynch syndrome, Human genetics, Pedigree, 030104 developmental biology, Urinary Bladder Neoplasms, Oncology, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Female
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مصطلحات موضوعية: 0301 basic medicine, business.industry, FOLFIRINOX, Deleterious Germline Mutation, Gastroenterology, Case Report, Metastatic Pancreatic Adenocarcinoma, medicine.disease, Germline, Oxaliplatin, 03 medical and health sciences, Regimen, 030104 developmental biology, 0302 clinical medicine, Germline mutation, Oncology, 030220 oncology & carcinogenesis, Pancreatic cancer, Cancer research, medicine, business, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5a8fab883d8027724682a6474ff56a0
https://europepmc.org/articles/PMC6087861/ -
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المؤلفون: Sophia George, Arlene E. Garcia-Soto, Andre Pinto, Rachel Silva-Smith, Ryan Kahn
المصدر: Gynecologic Oncology Reports
Gynecologic Oncology Reports, Vol 17, Iss C, Pp 93-95 (2016)مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Genetic counseling, PALB2, medicine.medical_treatment, BRIP1, Low-grade serous carcinoma, Case Report, lcsh:Gynecology and obstetrics, lcsh:RC254-282, Targeted therapy, 03 medical and health sciences, 0302 clinical medicine, Primary peritoneal carcinoma, Internal medicine, medicine, lcsh:RG1-991, Primary Peritoneal Carcinoma, business.industry, Obstetrics and Gynecology, Low grade serous carcinoma, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, medicine.disease, Positive patient, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), business, psychological phenomena and processes
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المصدر: American Journal of Gastroenterology. 113:S14-S15
مصطلحات موضوعية: High rate, Oncology, medicine.medical_specialty, medicine.anatomical_structure, Hepatology, business.industry, Internal medicine, Gastroenterology, medicine, Cancer, business, medicine.disease, Pancreas
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