Large Cancer Pedigree Involving Multiple Cancer Genes including Likely Digenic MSH2 and MSH6 Lynch Syndrome (LS) and an Instance of Recombinational Rescue from LS

Autor: Ingrid P. Vogelaar, Stephanie Greer, Fan Wang, GiWon Shin, Billy Lau, Yajing Hu, Sigurdis Haraldsdottir, Rocio Alvarez, Dennis Hazelett, Peter Nguyen, Francesca P. Aguirre, Maha Guindi, Andrew Hendifar, Jessica Balcom, Anna Leininger, Beth Fairbank, Hanlee Ji, Megan P. Hitchins

Publikováno v: Cancers; Volume 15; Issue 1; Pages: 228
Cancers, vol 15, iss 1

Lynch syndrome (LS), caused by heterozygous pathogenic variants affecting one of the mismatch repair (MMR) genes (MSH2, MLH1, MSH6, PMS2), confers moderate to high risks for colorectal, endometrial, and other cancers. We describe a four-generation, 1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::061eaf60f38d8f1ffee10414ce8f65ed

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

Autor: Carla Oliveira, Roland P. Kuiper, Hildegunn Høberg-Vetti, James R. Lupski, Encarna B. Gomez Garcia, Margreet G. E. M. Ausems, Christian Gilissen, Liesbeth Spruijt, Elke Holinski-Feder, C. Marleen Kets, Urszula Teodorczyk, Jelle J. Goeman, Rachel S. van der Post, Ad Geurts van Kessel, Anja Wagner, Alexander Hoischen, Anna Jakubowska, Wendy A. G. van Zelst-Stams, Rolf H. Sijmons, Cora M. Aalfs, Nicoline Hoogerbrugge, Maartje van de Vorst, Marjolijn J. L. Ligtenberg, Maurizio Genuardi, Shalini N. Jhangiani, Jan Lubinski, Lisenka E.L.M. Vissers, Frederik J. Hes, Inga Bjørnevoll, J. Han van Krieken, Hugo Pinheiro, Hans K. Schackert, Joep de Ligt, Ingrid P. Vogelaar, Guglielmina Nadia Ranzani, Donna M. Muzny, Liselotte P. van Hest, Richard A. Gibbs, Lizet E. van der Kolk, Valeria Molinaro

Publikováno v: European Journal of Human Genetics, 25, 11, pp. 1246-1252
European Journal of Human Genetics, 25(11), 1246. Nature Publishing Group
European Journal of Human Genetics, 25(11), 1246-1252. Nature Publishing Group
European journal of human genetics, 25(11), 1246-1252. Nature Publishing Group
European Journal of Human Genetics, 25, 1246-1252
European Journal of Human Genetics
Vogelaar, I P, Van Der Post, R S, Van Krieken, J H J M, Spruijt, L, Van Zelst-Stams, W A G, Kets, C M, Lubinski, J, Jakubowska, A, Teodorczyk, U, Aalfs, C M, Van Hest, L P, Pinheiro, H, Oliveira, C, Jhangiani, S N, Muzny, D M, Gibbs, R A, Lupski, J R, De Ligt, J, Vissers, L E L M, Hoischen, A, Gilissen, C, Van De Vorst, M, Goeman, J J, Schackert, H K, Ranzani, G N, Molinaro, V, García, E B G, Hes, F J, Holinski-Feder, E, Genuardi, M, Ausems, M G E M, Sijmons, R H, Wagner, A, Van Der Kolk, L E, Bjørnevoll, I, Høberg-Vetti, H, Van Kessel, A G, Kuiper, R P, Ligtenberg, M J L & Hoogerbrugge, N 2017, ' Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing ', European Journal of Human Genetics, vol. 25, no. 11, pp. 1246-1252 . https://doi.org/10.1038/ejhg.2017.138
European Journal of Human Genetics, 25(11), 1246-1252

Contains fulltext : 182216.pdf (Publisher’s version ) (Open Access) Recognition of individuals with a genetic predisposition to gastric cancer (GC) enables preventive measures. However, the underlying cause of genetic susceptibility to gastric canc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8924302c8b22121fd84e066e6595ac39
https://doi.org/10.1038/ejhg.2017.138

HNF4A immunohistochemistry facilitates distinction between primary and metastatic breast and gastric carcinoma

Autor: Peter Bult, J.H.J.M. van Krieken, M.J.L. Ligtenberg, R S van der Post, Ingrid P. Vogelaar, Nicoline Hoogerbrugge

Publikováno v: Virchows Archiv, 464, 673-9
Virchows Archiv, 464, 6, pp. 673-9

Contains fulltext : 138138.pdf (Publisher’s version ) (Closed access) The distinction between primary gastric adenocarcinoma and gastric metastatic breast carcinoma can be difficult. Expression of hepatocyte nuclear factor 4A (HNF4A) has been descr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c56104ea96f4a39e4d8e252de15c3b22
https://doi.org/10.1007/s00428-014-1574-x

Fine-Tiling Array CGH to Improve Diagnostics for alpha- and beta-Thalassemia Rearrangements

Autor: Ingrid P. Vogelaar, Cornelis L. Harteveld, Piero C. Giordano, Rianne Schaap, Jeetindra R A Balak, Supan Fucharoen, Attawut Chaibunruang, Egbert Bakker, Johan T. den Dunnen, Marion Phylipsen, Yavuz Ariyurek

Publikováno v: Human Mutation; Vol 33
Human Mutation, 33(1), 272-280
Human Mutation, 33(1), 272-80
Human Mutation, 33, 272-80
Human Mutation, 33, 1, pp. 272-80

Item does not contain fulltext Implementation of multiplex ligation-dependent probe amplification (MLPA) for thalassemia causing deletions has lead to the detection of new rearrangements. Knowledge of the exact breakpoint sequences should give more i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77a720926cee880802e09f3002f61d98

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers

Autor: Marc Tischkowitz, Sheena Tjon A Joe, Lynn DeGregorio, Bostjan Humar, Rachel S. van der Post, Carlos Caldas, Rosella P.M.G. Hermens, Tanya M. Bisseling, Patrick R. Benusiglio, Eveline M. A. Bleiker, Maria O'Donovan, Parry Guilford, J. Han van Krieken, Rianne Vehof, Annemieke Cats, Benjamin van Dijck, Krish Ragunath, Jennifer Lai, Franco Roviello, David G. Huntsman, Karen E Chelcun Schreiber, James M. Ford, Joana Figueiredo, Fátima Carneiro, Vanessa Blair, Margreet G. E. M. Ausems, Amy E Taylor, Linda Bardram, Nicoline Hoogerbrugge, G. Keller, Alex Boussioutas, Richard van Hillegersberg, Anouk ter Huurne, Pardeep Kaurah, Raquel Seruca, Nicole C.T. van Grieken, Esther Rasenberg, Ingrid P. Vogelaar, Hugo Pinheiro, Rebecca C. Fitzgerald, Marjolijn J. L. Ligtenberg, Carla Oliveira, Hans K. Schackert, Daniel G. Coit, Johanna W. van Sandick, Richard H. Hardwick, Esther Heijkoop, Susan Richardson

Publikováno v: van der Post, R S, Vogelaar, I P, Carneiro, F, Guilford, P, Huntsman, D, Hoogerbrugge, N, Caldas, C, Schreiber, K E C, Hardwick, R H, Ausems, M G E M, Bardram, L, Benusiglio, P R, Bisseling, T M, Blair, V, Bleiker, E, Boussioutas, A, Cats, A, Coit, D, DeGregorio, L, Figueiredo, J, Ford, J M, Heijkoop, E, Hermens, R, Humar, B, Kaurah, P, Keller, G, Lai, J, Ligtenberg, M J L, O'Donovan, M, Oliveira, C, Pinheiro, H, Ragunath, K, Rasenberg, E, Richardson, S, Roviello, F, Schackert, H, Seruca, R, Taylor, A, ter Huurne, A, Tischkowitz, M, Joe, S T A, van Dijck, B, van Grieken, N C T, van Hillegersberg, R, Sandick, J W, Vehof, R, van Krieken, J H & Fitzgerald, R C 2015, ' Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers ', Journal of Medical Genetics, vol. 52, no. 6, pp. 361-374 . https://doi.org/10.1136/jmedgenet-2015-103094
Journal of Medical Genetics, 52(6), 361. BMJ Publishing Group
Journal of Medical Genetics, 52, 6, pp. 361-374
Journal of Medical Genetics
Journal of Medical Genetics, 52, 361-374
Journal of Medical Genetics, 52(6), 361-374. BMJ Publishing Group

Contains fulltext : 152968.pdf (Publisher’s version ) (Open Access) Germline CDH1 mutations confer a high lifetime risk of developing diffuse gastric (DGC) and lobular breast cancer (LBC). A multidisciplinary workshop was organised to discuss genet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0c52579716c2024fb5fdcaaeb2531aa
https://research.vumc.nl/en/publications/94265543-5cff-49fd-aa56-103dce5ce884