Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Neoplastic Syndromes, Hereditary / genetics"'
Autor:
Christi J. van Asperen, Liesbeth van Osch, Charlotte J. Dommering, Trudy van der Weijden, Margreet G. E. M. Ausems, Margriet Collée, Vivianne C. G. Tjan-Heijnen, Marly H. E. Tummers, Lizet E. van der Kolk, Sander M. J. van Kuijk, C. Marleen Kets, Jan C. Oosterwijk, J.J.G. Gietel-Habets, Kelly Reumkens, Cora M. Aalfs, Christine E. M. de Die-Smulders
Publikováno v:
Familial cancer, 18(1), 137-146. Springer Netherlands
Familial Cancer
Familial Cancer, 18(1), 137. Springer Netherlands
Familial Cancer, 18(1), 137-146. Springer Netherlands
Reumkens, K, Tummers, M H E, Gietel-Habets, J J G, van Kuijk, S M J, Aalfs, C M, van Asperen, C J, Ausems, M G E M, Collée, M, Dommering, C J, Kets, C M, van der Kolk, L E, Oosterwijk, J C, Tjan-Heijnen, V C G, van der Weijden, T, de Die-Smulders, C E M & van Osch, L A D M 2019, ' The development of an online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making: a usability and pilot study ', Familial Cancer, vol. 18, no. 1, pp. 137-146 . https://doi.org/10.1007/s10689-018-0092-4
Familial Cancer, 18(1), 137-146. SPRINGER
Familial Cancer, 18(1), 137-146. Springer, Cham
Familial Cancer, 18, 137-146
Familial Cancer, 18, 1, pp. 137-146
Familial Cancer, 18(1), 137-146
Familial Cancer
Familial Cancer, 18(1), 137. Springer Netherlands
Familial Cancer, 18(1), 137-146. Springer Netherlands
Reumkens, K, Tummers, M H E, Gietel-Habets, J J G, van Kuijk, S M J, Aalfs, C M, van Asperen, C J, Ausems, M G E M, Collée, M, Dommering, C J, Kets, C M, van der Kolk, L E, Oosterwijk, J C, Tjan-Heijnen, V C G, van der Weijden, T, de Die-Smulders, C E M & van Osch, L A D M 2019, ' The development of an online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making: a usability and pilot study ', Familial Cancer, vol. 18, no. 1, pp. 137-146 . https://doi.org/10.1007/s10689-018-0092-4
Familial Cancer, 18(1), 137-146. SPRINGER
Familial Cancer, 18(1), 137-146. Springer, Cham
Familial Cancer, 18, 137-146
Familial Cancer, 18, 1, pp. 137-146
Familial Cancer, 18(1), 137-146
An online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making was developed. A two-phase usability test was conducted among 12 couples (N=22; 2 persons participated without
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9639a4bafca0c415a723a1cd3cf660c2
https://doi.org/10.1007/s10689-018-0092-4
https://doi.org/10.1007/s10689-018-0092-4
Autor:
Fátima Carneiro, Francesco Limarzi, Irene Gullo, Alessandro Vanoli, Luca Mastracci, Matteo Fassan, Luca Saragoni, Federica Grillo, Jacopo Ferro, Paola Parente
Publikováno v:
Pathologica
Summary Gastric cancer accounts for about 6% of cancers worldwide, being the fifth most frequently diagnosed malignancy and the third leading cause of cancer related death. Gastric carcinogenesis is a multistep and multifactorial process and is the r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bcc1a544474a402b14b576c33479024
https://hdl.handle.net/10216/145232
https://hdl.handle.net/10216/145232
Autor:
Monahan, KJ, Bradshaw, N, Dolwani, S, Desouza, B, Dunlop, MG, East, JE, Ilyas, M, Kaur, A, Lalloo, F, Latchford, A, Rutter, MD, Tomlinson, I, Thomas, HJW, Hill, J, Group, Hereditary CRC Guidelines Edelphi Consensus
Publikováno v:
2019, ' Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG) ', Gut, vol. 69, no. 3, pp. 411-444 . https://doi.org/10.1136/gutjnl-2019-319915, https://doi.org/10. 1136/ gutjnl-2019-319915
Monahan, KJ, Bradshaw, N, Dolwani, S, Desouza, B, Dunlop, MG, East, JE, Ilyas, M, Kaur, A, Lalloo, F, Latchford, A, Rutter, MD, Tomlinson, I, Thomas, HJW, Hill, J & group, H CRC G ED C 2019, ' Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG). ', Gut . https://doi.org/10.1136/gutjnl-2019-319915
Monahan, KJ, Bradshaw, N, Dolwani, S, Desouza, B, Dunlop, MG, East, JE, Ilyas, M, Kaur, A, Lalloo, F, Latchford, A, Rutter, MD, Tomlinson, I, Thomas, HJW, Hill, J & group, H CRC G ED C 2019, ' Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG). ', Gut . https://doi.org/10.1136/gutjnl-2019-319915
Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost 30% of the population in the UK have a family history of CRC. The quantification of an individual’s lifetime risk of gastrointestinal cancer may incorporate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ee4ac358139219e9d32b1627040fa5e
http://hdl.handle.net/10044/1/75361
http://hdl.handle.net/10044/1/75361
Publikováno v:
Ryan, N A J, Glaire, M A, Blake, D, Cabrera-Dandy, M, Evans, D G & Crosbie, E J 2019, ' The proportion of endometrial cancers associated with Lynch syndrome : a systematic review of the literature and meta-analysis ', Genetics in Medicine, vol. 21, no. 10, pp. 2167-2180 . https://doi.org/10.1038/s41436-019-0536-8
PURPOSE: Endometrial cancer (EC) is often the sentinel cancer in women with Lynch syndrome (LS). However, efforts to implement universal LS screening in EC patients have been hampered by a lack of evidence detailing the proportion of EC patients that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2642::e4b289817c47360893d9c9d27224e08a
https://research-information.bris.ac.uk/ws/files/253697845/s41436_019_0536_8.pdf
https://research-information.bris.ac.uk/ws/files/253697845/s41436_019_0536_8.pdf
Autor:
Anne-Marie Gerdes, Karin Wadt, Maria Bejerholm Christensen, Lotte Nylandsted Krogh, Uffe Birk Jensen, Charlotte Kvist Lautrup, Anders Bojesen, Thomas van Overeem Hansen
Publikováno v:
Christensen, M B, Wadt, K, Jensen, U B, Lautrup, C K, Bojesen, A, Krogh, L N, van Overeem Hansen, T & Gerdes, A M 2019, ' Exploring the hereditary background of renal cancer in Denmark ', PLOS ONE, vol. 14, no. 4, e0215725 . https://doi.org/10.1371/journal.pone.0215725
PLoS ONE
Christensen, M B, Wadt, K, Jensen, U B, Lautrup, C K, Bojesen, A, Krogh, L N, Overeem Hansen, T V & Gerdes, A-M 2019, ' Exploring the hereditary background of renal cancer in Denmark ', PLoS ONE, vol. 14, no. 4, e0215725 . https://doi.org/10.1371/journal.pone.0215725
Christensen, M B, Wadt, K, Jensen, U B, Lautrup, C K, Bojesen, A, Krogh, L N, Overeem Hansen, T V & Gerdes, A-M 2019, ' Exploring the hereditary background of renal cancer in Denmark ', PLOS ONE, vol. 14, no. 4, e0215725, pp. 1-16 . https://doi.org/10.1371/journal.pone.0215725
Christensen, M B, Wadt, K, Jensen, U B, Lautrup, C K, Bojesen, A, Krogh, L N, Overeem Hansen, T V & Gerdes, A-M 2019, ' Exploring the hereditary background of renal cancer in Denmark ', PLOS ONE, vol. 14, no. 4, e0215725 . https://doi.org/10.1371/journal.pone.0215725
PLoS ONE, Vol 14, Iss 4, p e0215725 (2019)
PLoS ONE
Christensen, M B, Wadt, K, Jensen, U B, Lautrup, C K, Bojesen, A, Krogh, L N, Overeem Hansen, T V & Gerdes, A-M 2019, ' Exploring the hereditary background of renal cancer in Denmark ', PLoS ONE, vol. 14, no. 4, e0215725 . https://doi.org/10.1371/journal.pone.0215725
Christensen, M B, Wadt, K, Jensen, U B, Lautrup, C K, Bojesen, A, Krogh, L N, Overeem Hansen, T V & Gerdes, A-M 2019, ' Exploring the hereditary background of renal cancer in Denmark ', PLOS ONE, vol. 14, no. 4, e0215725, pp. 1-16 . https://doi.org/10.1371/journal.pone.0215725
Christensen, M B, Wadt, K, Jensen, U B, Lautrup, C K, Bojesen, A, Krogh, L N, Overeem Hansen, T V & Gerdes, A-M 2019, ' Exploring the hereditary background of renal cancer in Denmark ', PLOS ONE, vol. 14, no. 4, e0215725 . https://doi.org/10.1371/journal.pone.0215725
PLoS ONE, Vol 14, Iss 4, p e0215725 (2019)
BACKGROUND: Every year more than 800 patients in Denmark are diagnosed with renal cell carcinoma (RCC) of which 3-5% are expected to be part of a hereditary renal cancer syndrome. We performed genetic screening of causative and putative RCC-genes (VH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65de305f7a1331ad5ebebe9680f07da2
https://pure.au.dk/portal/da/publications/exploring-the-hereditary-background-of-renal-cancer-in-denmark(1c2b74dd-9779-4823-a2eb-95b1a027ea4b).html
https://pure.au.dk/portal/da/publications/exploring-the-hereditary-background-of-renal-cancer-in-denmark(1c2b74dd-9779-4823-a2eb-95b1a027ea4b).html
Autor:
Maartje Nielsen, Marjolijn J. L. Ligtenberg, Yvonne Tiersma, Juul T. Wijnen, Maran J. W. Olderode-Berends, Encarna Gomez Garcia, B. Redeker, José B. M. Zonneveld, Sanne W. ten Broeke, Frederik J. Hes, Carli M. J. Tops, Peter Devilee, Theo A. M. van Os, Christi J. van Asperen, Hans J. J. P. Gille, Niels de Wind, Heleen M. van der Klift, Arjen R. Mensenkamp, Tom G.W. Letteboer, Yvonne J. Vos, Elsa C. Bik, Mark Drost, S. Verhoef, Liselotte P. van Hest, Anja Wagner
Publikováno v:
Human mutation, 37(11), 1162-1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162-1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162–1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162-1179. Wiley
Human Mutation, 37(11), 1162-1179
Human Mutation, 37, 11, pp. 1162-1179
Human Mutation, 37, 1162-1179
van der Klift, H M, Mensenkamp, A R, Drost, M, Bik, E C, Vos, Y J, Gille, H J J P, Redeker, B E J W, Tiersma, Y, Zonneveld, J B M, Garcia, E G, Letteboer, T G W, Olderode-Berends, M J W, van Hest, L P, van Os, T A, Verhoef, S, Wagner, A, van Asperen, C J, Ten Broeke, S W, Hes, F J, de Wind, N, Nielsen, M, Devilee, P, Ligtenberg, M J L, Wijnen, J T & Tops, C M J 2016, ' Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome ', Human Mutation, vol. 37, no. 11, pp. 1162-1179 . https://doi.org/10.1002/humu.23052
Human Mutation, 37(11), 1162-1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162–1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162-1179. Wiley
Human Mutation, 37(11), 1162-1179
Human Mutation, 37, 11, pp. 1162-1179
Human Mutation, 37, 1162-1179
van der Klift, H M, Mensenkamp, A R, Drost, M, Bik, E C, Vos, Y J, Gille, H J J P, Redeker, B E J W, Tiersma, Y, Zonneveld, J B M, Garcia, E G, Letteboer, T G W, Olderode-Berends, M J W, van Hest, L P, van Os, T A, Verhoef, S, Wagner, A, van Asperen, C J, Ten Broeke, S W, Hes, F J, de Wind, N, Nielsen, M, Devilee, P, Ligtenberg, M J L, Wijnen, J T & Tops, C M J 2016, ' Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome ', Human Mutation, vol. 37, no. 11, pp. 1162-1179 . https://doi.org/10.1002/humu.23052
Monoallelic PMS2 germline mutations cause 5-15% of Lynch syndrome, a midlife cancer predisposition, whereas biallelic PMS2 mutations cause approximately 60% of constitutional MMR deficiency (CMMRD), a rare childhood cancer syndrome. Recently improved
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0e47d3e18fe6f732f598289c985f991
https://doi.org/10.1002/humu.23052
https://doi.org/10.1002/humu.23052
Autor:
Margreet G. E. M. Ausems, Neeltje Arts, J. Han van Krieken, Marjolijn J. L. Ligtenberg, Encarna B. Gomez Garcia, Arjen R. Mensenkamp, Annemieke Cats, Rachel S. van der Post, Frederik J. Hes, Ingrid P. Vogelaar, Peggy Manders, Rolf H. Sijmons, Cora M. Aalfs, Liselotte P. van Hest, Lizet E. van der Kolk, Nicoline Hoogerbrugge, Anja Wagner
Publikováno v:
Gastroenterology, 149(4), 897-U578. Elsevier Saunders
Gastroenterology, 149, 4, pp. 897-906.e19
van der Post, R S, Vogelaar, I P, Manders, P, van der Kolk, L E, Cats, A, van Hest, L P, Sijmons, R, Aalfs, C M, Ausems, M G E M, Garcia, E B G, Wagner, A, Hes, F J, Arts, N, Mensenkamp, A R, van Krieken, J H, Hoogerbrugge, N & Ligtenberg, M J L 2015, ' Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1 ', Gastroenterology, vol. 149, no. 4, pp. 897-906 . https://doi.org/10.1053/j.gastro.2015.06.003
Gastroenterology, 149(4), 897-U578. W.B. Saunders
Gastroenterology, 149(4), 897. W.B. Saunders Ltd
Gastroenterology, 149, 897-906.e19
Gastroenterology, 149(4), 897-906.e19. W B SAUNDERS CO-ELSEVIER INC
Gastroenterology, 149(4), 897-906.e19. W.B. Saunders Ltd
Gastroenterology, 149(4), 897-906. W.B. Saunders Ltd
Gastroenterology, 149, 4, pp. 897-906.e19
van der Post, R S, Vogelaar, I P, Manders, P, van der Kolk, L E, Cats, A, van Hest, L P, Sijmons, R, Aalfs, C M, Ausems, M G E M, Garcia, E B G, Wagner, A, Hes, F J, Arts, N, Mensenkamp, A R, van Krieken, J H, Hoogerbrugge, N & Ligtenberg, M J L 2015, ' Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1 ', Gastroenterology, vol. 149, no. 4, pp. 897-906 . https://doi.org/10.1053/j.gastro.2015.06.003
Gastroenterology, 149(4), 897-U578. W.B. Saunders
Gastroenterology, 149(4), 897. W.B. Saunders Ltd
Gastroenterology, 149, 897-906.e19
Gastroenterology, 149(4), 897-906.e19. W B SAUNDERS CO-ELSEVIER INC
Gastroenterology, 149(4), 897-906.e19. W.B. Saunders Ltd
Gastroenterology, 149(4), 897-906. W.B. Saunders Ltd
Contains fulltext : 153344.pdf (Publisher’s version ) (Closed access) BACKGROUND & AIMS: Germline mutations in the cadherin 1, type 1, E-cadherin gene (CDH1) cause a predisposition to gastric cancer. We evaluated the ability of the internationally
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25828e493a7f45443a1e6d340df2d6c5
https://cris.maastrichtuniversity.nl/en/publications/f41e0d1a-5d3f-4a26-8f85-a3aedd13efbe
https://cris.maastrichtuniversity.nl/en/publications/f41e0d1a-5d3f-4a26-8f85-a3aedd13efbe
Publikováno v:
Familial Cancer, vol. 6, no. 1, pp. 141-145
Muir-Torre syndrome (MTS) is a rare cancer-predisposing syndrome that is autosomal dominantly inherited and characterized by the development of sebaceous skin lesions (adenomas, epitheliomas, basaliomas and carcinomas). These lesions are typically as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e5938883bf5826766a13f0d7e2e2601
https://pubmed.ncbi.nlm.nih.gov/17051350
https://pubmed.ncbi.nlm.nih.gov/17051350
Autor:
Stratakis, C, Kirschner, L, Taymans, SE, Tomlinson, I, Marsh, D, Torpy, D, Giatzakis, C, Eccles, D, Theaker, J, Houlston, R, Blouin, J, Antonarakis, SE, Basson, C, Eng, C, Carney, J
Publikováno v:
Journal of Clinical Endocrinology and Metabolism, Vol. 83, No 8 (1998) pp. 2972-2976
Carney complex (CC), Peutz-Jeghers syndrome (PJS), Cowden disease (CD), and Bannayan-Zonana syndrome (BZS) share clinical features, such as mucocutaneous lentigines and multiple tumors (thyroid, breast, ovarian, and testicular neoplasms), and autosom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::de56fbdc0fd3faeadcca51232d61cb74
https://archive-ouverte.unige.ch/unige:9043
https://archive-ouverte.unige.ch/unige:9043