Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Marielle W. G. Ruijs"'
Autor:
Marielle W. G. Ruijs, M E van Leerdam, Marianne B. Crijns, S A Nieuwenburg, G S Sonke, F. Adan
Publikováno v:
Familial Cancer. 19:347-351
Li-Fraumeni syndrome (LFS) is an inherited cancer syndrome, characterized by an early onset of various types of cancers. LFS is associated with a germline mutation in the TP53 gene. The risk of developing skin cancer in patients with LFS is unknown.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2c6f0e5acac9806c1b3f5ac015ef771
https://doi.org/10.1007/s10689-020-00178-1
https://doi.org/10.1007/s10689-020-00178-1
Autor:
W.T.A. van der Graaf, E. M. A. Bleiker, Gabe S. Sonke, M.A. Kuenen, W.J. van Houdt, G.F. de Wit, Marielle W. G. Ruijs, Birthe Heeres
Publikováno v:
Annals of Oncology. 32:S1119
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6436065e448446fdee4c153e6ed081ad
https://doi.org/10.1016/j.annonc.2021.08.869
https://doi.org/10.1016/j.annonc.2021.08.869
Autor:
Carolien P. Schröder, E. W. Blom, Linda A.M. Janssen, Jwm Martens, Maaike P.G. Vreeswijk, W. A. G. van Zelst-Stams, C.H.M. van Deurzen, Muriel A. Adank, C. J. van Asperen, Rogier A. Oldenburg, Nizet H. Dijkstra, Setareh Moghadasi, Juul T. Wijnen, V. Grundeken, Margreet G. E. M. Ausems, Jan C. Oosterwijk, T. A. M. van Os, Mar Rodríguez-Girondo, Marielle W. G. Ruijs
Publikováno v:
Clinical Genetics. 93:52-59
To establish whether existing mutation prediction models can identify which male breast cancer (MBC) patients should be offered BRCA1 and BRCA2 diagnostic DNA screening, we compared the performance of BOADICEA (Breast and Ovarian Analysis of Disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::350746602df508869a09015f88752187
https://doi.org/10.1111/cge.13065
https://doi.org/10.1111/cge.13065
Autor:
Thomas P. Slavin, David Malkin, Eveline M. A. Bleiker, Joshua D. Schiffman, Allison F. O'Neill, Marielle W. G. Ruijs, Jasmina Bojadzieva, Judy Garber, Lorenzo Manelli, Mark E. Robson, Jennifer T. Loud, Michael Walsh, Mandy L. Ballinger, Rosalind A. Eeles, Gabe S. Sonke, Bita Nehoray, Sharon A. Savage, Payal P. Khincha, Wendy Kohlmann, Erika Koeppe, June A. Peters, Alexandre Balieiro da Costa, D. Gareth Evans, Ana F. Best, Maria Isabel Achatz, Jeffrey N. Weitzel, Rubens Chojniak, Elena M. Stoffel, David Thomas, Claudette E. Loo, Louise C. Strong, Anne Naumer, Anita Villani, Karina Miranda Santiago, Surya P. Rednam, Phuong L. Mai
Publikováno v:
Ballinger, M L, Best, A, Mai, P L, Khincha, P P, Loud, J T, Peters, J A, Achatz, M I, Chojniak, R, Balierio da Costa, A, Santiago, K M, Garber, J, O'Neill, A, Eeles, R, Evans, D, Bleiker, E, Sonke, G S, Ruijs, M, Loo, C, Schiffmann, J, Naumer, A, Kohlmann, W K, Strong, L C, Bojadzieva, J, Malkin, D, Rednam, S P, Stoffel, E M, Koeppe, E, Weitzel, J N, Slavin, T P, Nehoray, B, Robson, M, Walsh, M, Manelli, L, Villani, A, Thomas, D M & Savage, S A 2017, ' Baseline Surveillance in Li-Fraumeni Syndrome using whole body magnetic resonance imaging: A Meta-Analysis ', JAMA oncology . https://doi.org/10.1001/jamaoncol.2017.1968
JAMA Oncol
JAMA Oncol
ImportanceThere are limited guidelines for clinical management in Li-Fraumeni syndrome, a multi-organ cancer predisposition condition. Whole body magnetic resonance imaging may play a role in surveillance of this high risk population.ObjectiveTo asse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aedf2690a14594c0a87c808227a7aad4
https://europepmc.org/articles/PMC5824277/
https://europepmc.org/articles/PMC5824277/
Autor:
Danielle Majoor-Krakauer, S. Verhoef, Frederik J. Hes, Marielle W. G. Ruijs, T. A. M. van Os, Neil K. Aaronson, Rolf H. Sijmons, Liesbeth Spruijt, C. R. M. Lammens, E. M. A. Bleiker, Tanja Nagtegaal, Margreet G. E. M. Ausems, Encarna B. Gomez-Garcia, A. M. W. Van Den Ouweland, R. B. van der Luijt, Chad M. Gundy
Publikováno v:
Psycho-Oncology. 20:631-638
Objective: Li Fraumeni syndrome (LFS) and Von Hippel-Lindau disease (VHL) are two rare hereditary tumor syndromes, characterized by a high risk of developing multiple tumors at various sites and ages for which preventive and treatment options are lim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f0e0c25131836911fd06373a91ba3868
https://doi.org/10.1002/pon.1951
https://doi.org/10.1002/pon.1951
Autor:
Senno Verhoef, Tanja Nagtegaal, Liesbeth Spruijt, C. R. M. Lammens, Rolf H. Sijmons, Annette H. J. T. Vriends, Eveline M. A. Bleiker, Irma Kluijt, Margreet G. E. M. Ausems, Marielle W. G. Ruijs, Encarna B. Gomez Garcia, Neil K. Aaronson, Theo A. M. van Os, Anja Wagner
Publikováno v:
Lammens, C R M, Aaronson, N K, Wagner, A, Sijmons, RH, Ausems, M G E M, Vriends, A H J T, Ruijs, M W G, van Os, T A M, Spruijt, L, Garcia, E B G, Kluijt, I, Nagtegaal, T, Verhoef, S & Bleiker, E M A 2010, ' Genetic Testing in Li-Fraumeni Syndrome: Uptake and Psychosocial Consequences ', Journal of Clinical Oncology, vol. 28, no. 18, pp. 3008-3014 . https://doi.org/10.1200/JCO.2009.27.2112
Journal of Clinical Oncology, 28(18), 3008-3014. American Society of Clinical Oncology
Journal of clinical oncology, 28(18), 3008-3014. American Society of Clinical Oncology
Journal of Clinical Oncology, 28(18), 3008-3014
Journal of Clinical Oncology, 28(18), 3008-3014. AMER SOC CLINICAL ONCOLOGY
Journal of Clinical Oncology, 28, 3008-14
Journal of Clinical Oncology, 28, 18, pp. 3008-14
Journal of Clinical Oncology, 28(18), 3008-3014. American Society of Clinical Oncology
Journal of clinical oncology, 28(18), 3008-3014. American Society of Clinical Oncology
Journal of Clinical Oncology, 28(18), 3008-3014
Journal of Clinical Oncology, 28(18), 3008-3014. AMER SOC CLINICAL ONCOLOGY
Journal of Clinical Oncology, 28, 3008-14
Journal of Clinical Oncology, 28, 18, pp. 3008-14
Purpose Li-Fraumeni syndrome (LFS) is a hereditary cancer syndrome, characterized by a high risk of developing cancer at various sites and ages. To date, limited clinical benefits of genetic testing for LFS have been demonstrated, and there are conce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cca825146ba670b652e7ccf104f61c3
https://doi.org/10.1200/JCO.2009.27.2112
https://doi.org/10.1200/JCO.2009.27.2112
Autor:
Marielle W. G. Ruijs, Margreet G. E. M. Ausems, T. A. M. van Os, Tanja Nagtegaal, Neil K. Aaronson, Annemieke Cats, Annette H. J. T. Vriends, Senno Verhoef, Rolf H. Sijmons, C. R. M. Lammens, E. M. A. Bleiker, Anja Wagner, Liesbeth Spruijt, E. B. Gomez Garcia
Publikováno v:
Familial Cancer, 9(4), 647-654
Familial Cancer, 9(4), 647-654. Springer Netherlands
Familial Cancer, 9, 4, pp. 647-54
Familial Cancer, 9(4), 647-654. SPRINGER
Familial Cancer, 9(4), 647-654. Springer, Cham
Familial Cancer, 9, 647-54
Lammens, C R M, Bleiker, E M A, Aaronson, N K, Wagner, A, Sijmons, RH, Ausems, M G E M, Vriends, A H J T, Ruijs, M W G, van Os, T A M, Spruijt, L, Garcia, E B G, Cats, A, Nagtegaal, T & Verhoef, S 2010, ' Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits ', Familial Cancer, vol. 9, no. 4, pp. 647-654 . https://doi.org/10.1007/s10689-010-9368-z
Familial Cancer
Familial cancer, 9(4), 647-654. Springer Netherlands
Familial Cancer, 9(4), 647-654. Springer Netherlands
Familial Cancer, 9, 4, pp. 647-54
Familial Cancer, 9(4), 647-654. SPRINGER
Familial Cancer, 9(4), 647-654. Springer, Cham
Familial Cancer, 9, 647-54
Lammens, C R M, Bleiker, E M A, Aaronson, N K, Wagner, A, Sijmons, RH, Ausems, M G E M, Vriends, A H J T, Ruijs, M W G, van Os, T A M, Spruijt, L, Garcia, E B G, Cats, A, Nagtegaal, T & Verhoef, S 2010, ' Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits ', Familial Cancer, vol. 9, no. 4, pp. 647-654 . https://doi.org/10.1007/s10689-010-9368-z
Familial Cancer
Familial cancer, 9(4), 647-654. Springer Netherlands
Contains fulltext : 89461.pdf (Publisher’s version ) (Closed access) Li Fraumeni Syndrome (LFS) is a hereditary cancer syndrome characterized by a high risk of developing various types of cancer from birth through late adulthood. Clinical benefits
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14bf63ddf0f1f80ee4caf2c299ae6c56
http://www.springerlink.com/content/70845m4373622671/fulltext.pdf
http://www.springerlink.com/content/70845m4373622671/fulltext.pdf
Autor:
Marielle W. G. Ruijs, Roelof Pruntel, Laura van 't Veer, Daphne de Jong, Senno Verhoef, Arno Floore, Fred H. Menko, G. Wigbout
Publikováno v:
Familial Cancer. 5:169-174
Li-Fraumeni syndrome (LFS) is an autosomal-dominant condition characterized by early-onset sarcoma, breast cancer and other specific tumour types. In most LFS kindreds germline TP53 mutations have been identified. In general, TP53 germline mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06f03162c6cf3b87930917fa18b947cd
https://doi.org/10.1007/s10689-005-4789-9
https://doi.org/10.1007/s10689-005-4789-9
Autor:
Marielle W. G. Ruijs, Gabe S. Sonke, Claudette E. Loo, Colette A. J. M. van Buchem, Eveline M. A. Bleiker
Publikováno v:
JAMA Oncology. 3:1733
This cohort study of patients with Li-Fraumeni syndrome assesses the diagnostic yield and false-positive rate of an annual surveillance program including whole-body magnetic resonance imaging in patients identified as carriers of TP53 gene mutations.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a66bdceb8fe54a8ee334cff48a1b1d5a
https://doi.org/10.1001/jamaoncol.2017.1346
https://doi.org/10.1001/jamaoncol.2017.1346
Autor:
Encarna Gomez Garcia, Anja Wagner, Frans B. L. Hogervorst, Annemarie H. van der Hout, Hanne Meijers-Heijboer, Rolf H. Sijmons, Cora M. Aalfs, Leo P. ten Kate, Senno Verhoef, Fred H. Menko, Laura J. van't Veer, Margreet G. E. M. Ausems, Roelof Pruntel, Matti A. Rookus, Marielle W. G. Ruijs, Nicoline Hoogerbrugge, Irma Kluijt, Christi J. van Asperen
Publikováno v:
Journal of Medical Genetics, 47(6), 421-428. BMJ Publishing Group
Journal of medical genetics, 47(6), 421-428. BMJ Publishing Group
Journal of Medical Genetics, 47, 421-8
Ruijs, M W G, Verhoef, S, Rookus, M A, Pruntel, R, van der Hout, A H, Hogervorst, F B L, Kluijt, I, Sijmons, RH, Aalfs, C M, Wagner, A, Ausems, M G E M, Hoogerbrugge, N, van Asperen, C J, Garcia, E B G, Meijers-Heijboer, E J, ten Kate, L P, Menko, F H & van 't Veer, L J 2010, ' TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes ', Journal of Medical Genetics, vol. 47, no. 6, pp. 421-428 . https://doi.org/10.1136/jmg.2009.073429
JOURNAL OF MEDICAL GENETICS, 47(6), 421-428. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 47, 6, pp. 421-8
Journal of Medical Genetics, 47(6), 421-428
Journal of medical genetics, 47(6), 421-428. BMJ Publishing Group
Journal of Medical Genetics, 47, 421-8
Ruijs, M W G, Verhoef, S, Rookus, M A, Pruntel, R, van der Hout, A H, Hogervorst, F B L, Kluijt, I, Sijmons, RH, Aalfs, C M, Wagner, A, Ausems, M G E M, Hoogerbrugge, N, van Asperen, C J, Garcia, E B G, Meijers-Heijboer, E J, ten Kate, L P, Menko, F H & van 't Veer, L J 2010, ' TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes ', Journal of Medical Genetics, vol. 47, no. 6, pp. 421-428 . https://doi.org/10.1136/jmg.2009.073429
JOURNAL OF MEDICAL GENETICS, 47(6), 421-428. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 47, 6, pp. 421-8
Journal of Medical Genetics, 47(6), 421-428
Contains fulltext : 89059.pdf (Publisher’s version ) (Closed access) BACKGROUND Li-Fraumeni syndrome (LFS) is a rare autosomal dominant cancer predisposition syndrome. Most families fulfilling the classical diagnostic criteria harbour TP53 germline
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::111cbd6bb5c32db9db64906b0bcc5a52
https://hdl.handle.net/1887/108974
https://hdl.handle.net/1887/108974