Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein

Autor: Mev Dominguez‐Valentin, Mark Drost, Christina Therkildsen, Eva Rambech, Hans Ehrencrona, Maria Angleys, Thomas Lau Hansen, Niels deWind, Mef Nilbert, Lene Juel Rasmussen

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 2, Iss 4, Pp 352-355 (2014)

Abstract In clinical genetic diagnostics, it is difficult to predict whether genetic mutations that do not greatly alter the primary sequence of the encoded protein causing unknown functional effects on cognate proteins lead to development of disease

Externí odkaz: https://doaj.org/article/205cc4374a8743c1b63b5c4e8498e952

Corrigendum to 'Lynch syndrome-associated epithelial ovarian cancer and its immunological profile' [Gynecologic Oncology 162 (2021) 686–693]

Autor: Mads Hald Andersen, Eva Rambech, Christina Therkildsen, Ove Andersen, Lars Henrik Jensen, Kevin Lim, Mef Nilbert, Maria Rasmussen, Inge Marie Svane

Publikováno v: Rasmussen, M, Lim, K, Rambech, E, Andersen, M H, Svane, I M, Andersen, O, Jensen, L H, Nilbert, M & Therkildsen, C 2022, ' Corrigendum to "Lynch syndrome-associated epithelial ovarian cancer and its immunological profile" [Gynecologic Oncology 162 (2021) 686-693] ', Gynecologic Oncology, vol. 164, no. 1, pp. 242 . https://doi.org/10.1016/j.ygyno.2021.11.008

The authors regret that there were some errors in their article. Please see below for further details. In the results, section 2.2, it should be Spearman's correlation coefficient and not Pearson's. Just as stated in the method section. In the method

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c009d6a63b138c763c33350a7a43a4b
https://doi.org/10.1016/j.ygyno.2021.11.008

Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome

Autor: Annette Persson, Steen Ladelund, Eva Rambech, Christina Therkildsen, Mef Nilbert, A Petersen

Publikováno v: European Journal of Neurology. 22:717-724

Background and purpose Brain tumors represent a rare and relatively uncharacterized tumor type in Lynch syndrome. Methods The national Danish Hereditary Nonpolyposis Colorectal Cancer Register was utilized to estimate the cumulative life-time risk fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae7ad178c623141b720e1e7c5445554f
https://doi.org/10.1111/ene.12647

Challenges in the Identification of MSH6-Associated Colorectal Cancer

Autor: Eva Rambech, Susanne Holck, Louise Laurberg Klarskov, Inge Bernstein, Mef Nilbert, Bo Baldetorp, Henrik Okkels

Publikováno v: Klarskov, L L, Holck, S, Bernstein, I T, Okkels, H, Rambech, E, Baldetorp, B & Nilbert, M 2011, ' Challenges in the Identification of MSH6-Associated Colorectal Cancer: Rectal Location, Less Typical Histology, and a Subset With Retained Mismatch Repair Function ', American Journal of Surgical Pathology, vol. 35, no. 9, pp. 1391-9 . https://doi.org/10.1097/PAS.0b013e318225c3f0

Identification of Lynch syndrome tumors is challenging. This relates particularly to MSH6-associated cases, which show reduced penetrance of colorectal cancer and a higher age at diagnosis. We recorded the clinical and morphologic features of 52 MSH6

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17276eb64a4c497ef5dc4d3cc1b9303a
https://doi.org/10.1097/pas.0b013e318225c3f0

The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer

Autor: Susanne Malander, Britta Halvarsson, Ulf Kristoffersson, Åke Borg, Eva Rambech, Mef Nilbert, Mona Ridderheim

Publikováno v: Gynecologic Oncology. 101:238-243

Objective. Ovarian cancer has one of the highest fractions of hereditary cases. The hereditary breast and ovarian cancer syndrome, primarily due to mutations in BRCA1 and BRCA2, is the main cause of heredity, but also the hereditary nonpolyposis colo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b90559c35a7c82ebd353ba811a9e029
https://doi.org/10.1016/j.ygyno.2005.10.029