Publications

1 - 10 of 208 results

Sorteren op
Search term:

Comparison of clinical, genetic, and pathologic features of limbic and diffuse transactive response DNA-binding protein 43 pathology in Alzheimer's disease neuropathologic spectrum University of Antwerp Flanders Institute for Biotechnology

Arenn F. Carlos, Mary M. Machulda, Matthew H. Rutledge, Aivi T. Nguyen, R. Ross Reichard, Matthew C. Baker, Rosa Rademakers, Dennis W. Dickson, Ronald C. Petersen, Keith A. Josephs, et al.
Background: Increasing evidence suggests that TAR DNA-binding protein 43 (TDP-43) pathology in Alzheimer's disease (AD), or AD-TDP, can be diffuse or limbic-predominant. Understanding whether diffuse AD-TDP has genetic, clinical, and pathological features that differ from limbic AD-TDP could have clinical and research implications. Objective: To better characterize the clinical and pathologic features of diffuse AD-TDP and differentiate it from ...

Risks of less common cancers in proven mutation carriers with lynch syndrome Vrije Universiteit Brussel

Christoph Engel, Markus Loeffler, Verena Steinke-Lange, Nils Rahner, Elke Holinski-Feder, Wolfgang Dietmaier, Hans K Schackert, Heike Goergens, Magnus von Knebel Doeberitz, Timm O Goecke, et al.

PURPOSE: Patients with Lynch syndrome are at high risk for colon and endometrial cancer, but also at an elevated risk for other less common cancers. The purpose of this retrospective cohort study was to provide risk estimates for these less common cancers in proven carriers of pathogenic mutations in the mismatch repair (MMR) genes MLH1, MSH2, and MSH6.

PATIENTS AND METHODS: Data were pooled from the German and Dutch national Lynch ...

Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer Vrije Universiteit Brussel

Fadwa A Elsayed, C Marleen Kets, Dina Ruano, Brendy Ewm van den Akker, Arjen R Mensenkamp, Melanie Schrumpf, Maartje Nielsen, Juul T Wijnen, Carli Mj Tops, Marjolijn J L Ligtenberg, et al.

Germline variants affecting the exonuclease domains of POLE and POLD1 predispose to multiple colorectal adenomas and/or colorectal cancer (CRC). The aim of this study was to estimate the prevalence of previously described heterozygous germline variants POLE c.1270C>G, p.(Leu424Val) and POLD1 c.1433G>A, p.(Ser478Asn) in a Dutch series of unexplained familial, early onset CRC and polyposis index cases. We examined 1188 familial CRC and ...

Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers Vrije Universiteit Brussel

Sofie Joris, Philippe Giron, Catharina Olsen, Sara Seneca, Alexander Gheldof, Shula Staessens, Rajendra Bahadur Shahi, Sylvia De Brakeleer, Erik Teugels, Jacques De Grève, et al.

BACKGROUND: Among the 10% of pancreatic cancers that occur in a familial context, around a third carry a pathogenic variant in a cancer predisposition gene. Genetic studies of pancreatic cancer predisposition are limited by high mortality rates amongst index patients and other affected family members. The genetic risk for pancreatic cancer is often shared with breast cancer susceptibility genes, most notably BRCA2, PALB2, ATM and BRCA1. ...

Loss of ARID1A expression and its relationship with PI3K-Akt pathway alterations, TP53 and microsatellite instability in endometrial cancer Vrije Universiteit Brussel

Tjalling Bosse, Natalja T ter Haar, Laura M Seeber, Paul J v Diest, Frederik Jan Hes, Hans F A Vasen, Remi A Nout, Carien L Creutzberg, Hans Morreau, Vincent T H B M Smit, et al.

The switch/sucrose non-fermentable (SWI/SNF) subunit ARID1A (AT-rich interactive domain 1A gene) has been recently postulated as a novel tumor suppressor of gynecologic cancer and one of the driver genes in endometrial carcinogenesis. However, specific relationships with established molecular alterations in endometrioid endometrial cancer (EEC) are currently unknown. We analyzed the expression of ARID1A in 146 endometrial cancers (130 EECs ...

MLL2 mutation spectrum in 45 patients with Kabuki syndrome Vrije Universiteit Brussel KU Leuven

Aimée D C Paulussen, Alexander P A Stegmann, Marinus J Blok, Demis Tserpelis, Crool Posma-Velter, Yvonne Detisch, Eric E J G L Smeets, Annemieke Wagemans, Jaap J P Schrander, Marie-José H van den Boogaard, et al.

Kabuki Syndrome (KS) is a rare syndrome characterized by intellectual disability and multiple congenital abnormalities, in particular a distinct dysmorphic facial appearance. KS is caused by mutations in the MLL2 gene, encoding an H3K4 histone methyl transferase which acts as an epigenetic transcriptional activator during growth and development. Direct sequencing of all 54 exons of the MLL2 gene in 45 clinically well-defined KS patients ...

RPL5 on 1p22.1 is recurrently deleted in multiple myeloma and its expression is linked to bortezomib response Vrije Universiteit Brussel KU Leuven

I J F Hofman, Mv Duin, Elke De Bruyne, L Fancello, G Mulligan, E Geerdens, E Garelli, C Mancini, H Lemmens, M. Delforge, et al.

Chromosomal region 1p22 is deleted in ⩾20% of multiple myeloma (MM) patients, suggesting the presence of an unidentified tumor suppressor. Using high-resolution genomic profiling, we delimit a 58 kb minimal deleted region (MDR) on 1p22.1 encompassing two genes: ectopic viral integration site 5 (EVI5) and ribosomal protein L5 (RPL5). Low mRNA expression of EVI5 and RPL5 was associated with worse survival in diagnostic cases. Patients with 1p22 ...

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS Vrije Universiteit Brussel Ghent University KU Leuven University of Antwerp

Ilse Gijselinck, Kristel Sleegers, Sebastiaan Engelborghs, Wim Robberecht, Jean-Jacques Martin, Rik Vandenberghe, Raf Sciot, Bart Dermaut, Dirk Goossens, Julie van der Zee, et al.

The nuclear TAR DNA binding protein (TDP-43) is deposited in ubiquitin-positive inclusions in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), two clinicopathologically overlapping neurodegenerative diseases. In this study we excluded mutations and copy number variations in the gene encoding TDP-43 (TARDBP) from an extended series of 173 FTD and 237 ALS patients. Further, we did not identify association of common genetic ...

Contribution of TARDBP to Alzheimer's disease genetic etiology Vrije Universiteit Brussel University of Antwerp

Ilse Gijselinck, Sebastiaan Engelborghs, Barbara A Pickut, Helen Van Miegroet, Ana Gil Montoya, Maria Mattheijssens, Karin Peeters, Peter De Deyn

The nuclear transactive response (TAR) DNA binding protein-43, TDP-43, is a major constituent of the ubiquitinated neuronal inclusions in patients with frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Missense mutations in TDP-43 have been associated with familial and sporadic ALS. Since TDP-43 immunoreactivity was also frequently observed in Alzheimer's disease (AD) brains and elevated TDP-43 plasma levels ...

Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2 Vrije Universiteit Brussel

Sanne W Ten Broeke, Tom C van Bavel, Anne M L Jansen, Encarnca Gómez-García, Frederik Jan Hes, Liselot P van Hest, Tom G W Letteboer, Maran J W Olderode-Berends, Dina Ruano, Liesbeth Spruijt, et al.

BACKGROUND & AIMS: Germline variants in mismatch repair genes MLH1, MSH2 (EPCAM), MSH6, or PMS2 cause Lynch syndrome. Patients with these variants have an increased risk of developing colorectal cancers (CRCs) that differ from sporadic CRCs in genetic and histologic features. It has been a challenge to study CRCs associated with PMS2 variants (PMS2-associated CRCs) because these develop less frequently and in older patients than CRCs with ...