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1دورية أكاديمية
المؤلفون: Vos, JR, Giepmans, L, Rohl, C, Geverink, N, Hoogerbrugge, N, Ligtenberg, M, Kets, M, Sijmons, R, Evans, G, Woodward, E, Tischkowitz, M, Maher, E, Steinke-Lange, V, Holinski-Feder, E, Frebourg, T, Houdayer, C, Ferner, RE, Lubinski, J, Ertmanska, K, Lagercrantz, SB, Tham, E, Guillermo, IB, Capella, G, Vidal, JB, Lazaro, C, Balmana, J, Bours, V, Legius, E, Wolkenstein, P, Melegh, B, Oliveira, C, Teixeira, M, Poppe, B, Claes, K, Hernandez, HS, Aretz, S, Spier, I, Oostenbrink, R, Krajc, M, Blatnik, A, Schrock, E, Peltonen, S, Hietala, M
المصدر: Familial cancer. 18(2):281-284
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Dominguez-Valentin, M, Haupt, S, Seppala, TT, Sampson, JR, Sunde, L, Bernstein, I, Jenkins, MA, Engel, C, Aretz, S, Nielsen, M, Capella, G, Balaguer, F, Evans, DG, Burn, J, Holinski-Feder, E, Bertario, L, Bonanni, B, Lindblom, A, Levi, Z, Macrae, F, Winship, I, Plazzer, JP, Sijmons, R, Laghi, L, Valle, A, Heinimann, K, Debniak, T, Fruscio, R, Lopez-Koestner, F, Alvarez-Valenzuela, K, Katz, LH, Laish, I, Vainer, E, Vaccaro, C, Carraro, DM, Monahan, K, Half, E, Stakelum, A, Winter, D, Kennelly, R, Gluck, N, Sheth, H, Abu-Freha, N, Greenblatt, M, Rossi, BM, Bohorquez, M, Cavestro, GM, Lino-Silva, LS, Horisberger, K, Tibiletti, MG, Nascimento, I, Thomas, H, Rossi, NT, da Silva, LA, Zarand, A, Ruiz-Banobre, J, Heuveline, V, Mecklin, JP, Pylvanainen, K, Renkonen-Sinisalo, L, Lepisto, A, Peltomaki, P, Therkildsen, C, Madsen, MG, Burgdorf, SK, Hopper, JL, Win, AK, Haile, RW, Lindor, N, Gallinger, S, Le Marchand, L, Newcomb, PA, Figueiredo, J, Buchanan, DD, Thibodeau, SN, Doeberitz, MV, Loeffler, M, Rahner, N, Schrock, E, Steinke-Lange, V, Schmiegel, W, Vangala, D, Perne, C, Huneburg, R, Redler, S, Buttner, R, Weitz, J, Pineda, M, Duenas, N, Vidal, JB, Moreira, L, Sanchez, A, Hovig, E, Nakken, S, Green, K, Lalloo, F, Hill, J, Crosbie, E, Mints, M, Goldberg, Y, Tjandra, D, ten Broeke, SW, Kariv, R, Rosner, G, Advani, SH, Thomas, L, Shah, P, Shah, M, Neffa, F, Esperon, P, Pavicic, W, Torrezan, GT, Bassaneze, T, Martin, CA, Moslein, G, Moller, P
المصدر: EClinicalMedicine. 58:101909
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Moller, P, Seppala, T, Bernstein, I, Holinski-Feder, E, Sala, P, Evans, DG, Lindblom, A, Macrae, F, Blanco, I, Sijmons, R, Jeffries, J, Vasen, H, Burn, J, Nakken, S, Hovig, E, Rodland, EA, Tharmaratnam, K, Cappel, WHDTN, Hill, J, Wijnen, J, Green, K, Lalloo, F, Sunde, L, Mints, M, Bertario, L, Pineda, M, Navarro, M, Morak, M, Renkonen-Sinisalo, L, Frayling, IM, Plazzer, JP, Pylvanainen, K, Sampson, JR, Capella, G, Mecklin, JP, Moslein, G
المصدر: Gut. 66(3):464-472
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
المؤلفون: Moller, P, Seppala, T, Dowty, JG, Haupt, S, Dominguez-Valentin, M, Sunde, L, Bernstein, I, Engel, C, Aretz, S, Nielsen, M, Capella, G, Evans, DG, Burn, J, Holinski-Feder, E, Bertario, L, Bonanni, B, Lindblom, A, Levi, Z, Macrae, F, Winship, I, Plazzer, JP, Sijmons, R, Laghi, L, Della Valle, A, Heinimann, K, Half, E, Lopez-Koestner, F, Alvarez-Valenzuela, K, Scott, RJ, Katz, L, Laish, I, Vainer, E, Vaccaro, CA, Carraro, DM, Gluck, N, Abu-Freha, N, Stakelum, A, Kennelly, R, Winter, D, Rossi, BM, Greenblatt, M, Bohorquez, M, Sheth, H, Tibiletti, MG, Lino-Silva, LS, Horisberger, K, Portenkirchner, C, Nascimento, I, Rossi, NT, da Silva, LA, Thomas, H, Zarand, A, Mecklin, JP, Pylvanainen, K, Renkonen-Sinisalo, L, Lepisto, A, Peltomaki, P, Therkildsen, C, Lindberg, LJ, Thorlacius-Ussing, O, Doeberitz, MV, Loeffler, M, Rahner, N, Steinke-Lange, V, Schmiegel, W, Vangala, D, Perne, C, Huneburg, R, de Vargas, AF, Latchford, A, Gerdes, AM, Backman, AS, Guillen-Ponce, C, Snyder, C, Lautrup, CK, Amor, D, Palmero, E, Stoffel, E, Duijkers, F, Hall, MJ, Hampel, H, Williams, H, Okkels, H, Lubinski, J, Reece, J, Ngeow, J, Guillem, JG, Arnold, J, Wadt, K, Monahan, K, Senter, L, Rasmussen, LJ, van Hest, LP, Ricciardiello, L, Kohonen-Corish, MRJ, Ligtenberg, MJL, Southey, M, Aronson, M, Zahary, MN, Samadder, NJ, Poplawski, N, Hoogerbrugge, N, Morrison, PJ, James, P, Lee, G, Chen-Shtoyerman, R, Ankathil, R, Pai, R, Ward, R, Parry, S, Debniak, T, John, T, Hansen, TV, Caldes, T, Yamaguchi, T, Barca-Tierno, V, Garre, P, Cavestro, GM, Weitz, J, Redler, S, Buttner, R, Heuveline, V, Hopper, JL, Win, AK, Lindor, N, Gallinger, S, Le Marchand, L, Newcomb, PA, Figueiredo, J, Buchanan, DD, Thibodeau, SN, ten Broeke, SW, Hovig, E, Nakken, S, Pineda, M, Duenas, N, Brunet, J, Green, K, Lalloo, F, Newton, K, Crosbie, EJ, Mints, M, Tjandra, D, Neffa, F, Esperon, P, Kariv, R, Rosner, G, Pavicic, WH, Kalfayan, P, Torrezan, GT, Bassaneze, T, Martin, C, Moslein, G, Ahadova, A, Kloor, M, Sampson, JR, Jenkins, MA
المصدر: Hereditary cancer in clinical practice. 20(1):36
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Bokkers, K., Bleiker, E. M.A., Aalfs, C. M., van Dalen, T., Velthuizen, M. E., Duijveman, P., Sijmons, R. H., Koole, W., Schoenmaeckers, E. J.P., Ausems, M. G.E.M.
المساهمون: Cancer, Genetica Sectie Oncogenetica, Genetica Klinische Genetica, MS CGO, Genetica, Genetica Oper.Mang. Clinical Genetics, Staf strategisch beleid, Genetica Sectie Genoomdiagnostiek
مصطلحات موضوعية: Oncology, Surgery, Journal Article
الوصف: Background: Pre-test genetic counseling for patients with breast cancer is increasingly being provided by nongenetic healthcare professionals. We evaluated the attitudes, knowledge, and self-efficacy of surgeons, oncologists, and nurses regarding mainstream genetic testing and the feasibility to incorporate pre-test genetic counseling into routine care. Methods: We offered an online training to healthcare professionals from 13 hospitals and implemented a mainstream genetic testing pathway in 11/13 (85%) hospitals. Questionnaires were sent before (T0) and 6 months after (T1) completing the training. Those who did not complete the training received a questionnaire to assess their motivations. Results: In 11 hospitals, 80 (65%) healthcare professionals completed the training, of whom 70 (88%) completed both questionnaires. The attitudes, (perceived) knowledge and self-efficacy of healthcare professionals were high both at baseline and 6 months after completing the training. After 6 months, their perceived knowledge about the advantages and disadvantages of a genetic test and implications for family members had significantly improved (p = 0.012 and p = 0.021, respectively). For the majority (89%), the time investment for pre-test genetic counseling was less than 15 min per patient and as expected or better. Healthcare professionals considered the total time investment feasible to incorporate mainstream genetic testing into their daily practice. The main barrier to complete the training was lack of time. The online training was considered useful, with a rating of 8/10. Conclusion: Surgical oncologists and nurses in breast cancer care feel well-equipped and motivated to provide pre-test genetic counseling after completion of an online training module.
وصف الملف: application/pdf
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6دورية أكاديمية
المؤلفون: Moller P., Seppala T. T., Ahadova A., Crosbie E. J., Holinski-Feder E., Scott R., Haupt S., Moslein G., Winship I., Broeke S. W. B. -T., Kohut K. E., Ryan N., Bauerfeind P., Thomas L. E., Evans D. G., Aretz S., Sijmons R. H., Half E., Heinimann K., Horisberger K., Monahan K., Engel C., Cavestro G. M., Fruscio R., Abu-Freha N., Zohar L., Laghi L., Bertario L., Bonanni B., Tibiletti M. G., Lino-Silva L. S., Vaccaro C., Valle A. D., Rossi B. M., da Silva L. A., de Oliveira Nascimento I. L., Rossi N. T., Debniak T., Mecklin J. -P., Bernstein I., Lindblom A., Sunde L., Nakken S., Heuveline V., Burn J., Hovig E., Kloor M., Sampson J. R., Dominguez-Valentin M.
المساهمون: Moller, P, Seppala, T, Ahadova, A, Crosbie, E, Holinski-Feder, E, Scott, R, Haupt, S, Moslein, G, Winship, I, Broeke, S, Kohut, K, Ryan, N, Bauerfeind, P, Thomas, L, Evans, D, Aretz, S, Sijmons, R, Half, E, Heinimann, K, Horisberger, K, Monahan, K, Engel, C, Cavestro, G, Fruscio, R, Abu-Freha, N, Zohar, L, Laghi, L, Bertario, L, Bonanni, B, Tibiletti, M, Lino-Silva, L, Vaccaro, C, Valle, A, Rossi, B, da Silva, L, de Oliveira Nascimento, I, Rossi, N, Debniak, T, Mecklin, J, Bernstein, I, Lindblom, A, Sunde, L, Nakken, S, Heuveline, V, Burn, J, Hovig, E, Kloor, M, Sampson, J, Dominguez-Valentin, M
مصطلحات موضوعية: Lynch syndrome
الوصف: The recognition of dominantly inherited micro-satellite instable (MSI) cancers caused by pathogenic variants in one of the four mismatch repair (MMR) genes MSH2, MLH1, MSH6 and PMS2 has modified our understanding of carcinogenesis. Inherited loss of function variants in each of these MMR genes cause four dominantly inherited cancer syndromes with different penetrance and expressivities: the four Lynch syndromes. No person has an “average sex “or a pathogenic variant in an “average Lynch syndrome gene” and results that are not stratified by gene and sex will be valid for no one. Carcinogenesis may be a linear process from increased cellular division to localized cancer to metastasis. In addition, in the Lynch syndromes (LS) we now recognize a dynamic balance between two stochastic processes: MSI producing abnormal cells, and the host’s adaptive immune system’s ability to remove them. The latter may explain why colonoscopy surveillance does not reduce the incidence of colorectal cancer in LS, while it may improve the prognosis. Most early onset colon, endometrial and ovarian cancers in LS are now cured and most cancer related deaths are after subsequent cancers in other organs. Aspirin reduces the incidence of colorectal and other cancers in LS. Immunotherapy increases the host immune system’s capability to destroy MSI cancers. Colonoscopy surveillance, aspirin prevention and immunotherapy represent major steps forward in personalized precision medicine to prevent and cure inherited MSI cancer.
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37821984; info:eu-repo/semantics/altIdentifier/wos/WOS:001098102600001; volume:21; issue:1 (December 2023); journal:HEREDITARY CANCER IN CLINICAL PRACTICE; https://hdl.handle.net/10281/446400Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85173795794
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7دورية أكاديمية
المؤلفون: Seppala, T, Pylvanainen, K, Evans, DG, Jarvinen, H, Renkonen-Sinisalo, L, Bernstein, I, Holinski-Feder, E, Sala, P, Lindblom, A, Macrae, F, Blanco, I, Sijmons, R, Jeffries, J, Vasen, H, Burn, J, Nakken, S, Hovig, E, Rodland, EA, Tharmaratnam, K, Cappel, WHDTN, Hill, J, Wijnen, J, Jenkins, M, Genuardi, M, Green, K, Lalloo, F, Sunde, L, Mints, M, Bertario, L, Pineda, M, Navarro, M, Morak, M, Frayling, IM, Plazzer, JP, Sampson, JR, Capella, G, Moslein, G, Mecklin, JP, Moller, P
المصدر: Hereditary cancer in clinical practice. 15:18
مصطلحات موضوعية: Medicin och hälsovetenskap
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8دورية أكاديمية
المؤلفون: Tischkowitz, M, Colas, C, Pouwels, S, Hoogerbrugge, N, Ligtenberg, M, Oostenbrink, Rianne, Sijmons, R, Evans, G, Woodward, E, Peltonen, S, Hietala, M
المصدر: Tischkowitz , M , Colas , C , Pouwels , S , Hoogerbrugge , N , Ligtenberg , M , Oostenbrink , R , Sijmons , R , Evans , G , Woodward , E , Peltonen , S & Hietala , M 2020 , ' Cancer Surveillance Guideline for individuals withPTENhamartoma tumour syndrome ' , European Journal of Human Genetics , vol. 28 , no. 10 , pp. 1387-1393 . https://doi.org/10.1038/s41431-020-0651-7Test
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, SDG 3 - Good Health and Well-being
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1038/s41431-020-0651-7Test
https://pure.eur.nl/en/publications/f67fe896-8ac5-48b7-a994-9a00aa12ce5dTest
https://pure.eur.nl/ws/files/48421611/Repub_127885_O-A.pdfTest -
9دورية أكاديمية
المؤلفون: Frebourg, T, Lagercrantz, SB, Oliveira, C, Magenheim, R, Evans, DGR, Hoogerbrugge, N, Ligtenberg, M, Oostenbrink, Rianne, Sijmons, R, Evans, G, Woodward, E, Peltonen, S, Hietala, M
المصدر: Frebourg , T , Lagercrantz , SB , Oliveira , C , Magenheim , R , Evans , DGR , Hoogerbrugge , N , Ligtenberg , M , Oostenbrink , R , Sijmons , R , Evans , G , Woodward , E , Peltonen , S & Hietala , M 2020 , ' Reply to Kratz et al ' , European Journal of Human Genetics , vol. 28 , no. 11 , pp. 1483-1485 . https://doi.org/10.1038/s41431-020-00710-yTest
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1038/s41431-020-00710-yTest
https://pure.eur.nl/en/publications/b8e6fbe5-c06a-49ab-83cf-4dd13f38ac98Test
https://pure.eur.nl/ws/files/48400319/Repub_129636_O-A.pdfTest
http://hdl.handle.net/1765/129636Test -
10دورية أكاديمية
المؤلفون: Corsten-Janssen, N, Bouman, K, Diphoorn, J C D, Scheper, A J, Kinds, R, El Mecky, J, Breet, H, Verheij, J B G M, Suijkerbuijk, R, Duin, L K, Manten, G T R, van Langen, I M, Sijmons, R H, Sikkema-Raddatz, B, Westers, H, van Diemen, C C
المصدر: Corsten-Janssen , N , Bouman , K , Diphoorn , J C D , Scheper , A J , Kinds , R , El Mecky , J , Breet , H , Verheij , J B G M , Suijkerbuijk , R , Duin , L K , Manten , G T R , van Langen , I M , Sijmons , R H , Sikkema-Raddatz , B , Westers , H & van Diemen , C C 2020 , ' A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound ....
الوصف: Objective: Conventional genetic tests (quantitative fluorescent-PCR [QF-PCR] and single nucleotide polymorphism-array) only diagnose ~40% of fetuses showing ultrasound abnormalities. Rapid exome sequencing (rES) may improve this diagnostic yield, but includes challenges such as uncertainties in fetal phenotyping, variant interpretation, incidental unsolicited findings, and rapid turnaround times. In this study, we implemented rES in prenatal care to increase diagnostic yield. Methods: We prospectively studied 55 fetuses. Inclusion criteria were: (a) two or more independent major fetal anomalies, (b) hydrops fetalis or bilateral renal cysts alone, or (c) one major fetal anomaly and a first-degree relative with the same anomaly. In addition to conventional genetic tests, we performed trio rES analysis using a custom virtual gene panel of ~3850 Online Mendelian Inheritance in Man (OMIM) genes. Results: We established a genetic rES-based diagnosis in 8 out of 23 fetuses (35%) without QF-PCR or array abnormalities. Diagnoses included MIRAGE (SAMD9), Zellweger (PEX1), Walker-Warburg (POMGNT1), Noonan (PTNP11), Kabuki (KMT2D), and CHARGE (CHD7) syndrome and two cases of Osteogenesis Imperfecta type 2 (COL1A1). In six cases, rES diagnosis aided perinatal management. The median turnaround time was 14 (range 8-20) days. Conclusion: Implementing rES as a routine test in the prenatal setting is challenging but technically feasible, with a promising diagnostic yield and significant clinical relevance.
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/pd.5781Test
https://hdl.handle.net/11370/87334dbf-bc3b-4511-963a-66c5ae7aad5cTest
https://research.rug.nl/en/publications/87334dbf-bc3b-4511-963a-66c5ae7aad5cTest
https://pure.rug.nl/ws/files/151472886/A_prospective_study_on_rapid_exome_sequencing_as_a_diagnostic_test_for_multiple_congenital_anomalies_on_fetal_ultrasound.pdfTest
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