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Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas Vrije Universiteit Brussel

Attje S Hoekstra, Erik F Hensen, Ekaterina S Jordanova, Esther Korpershoek, Anouk Na van der Horst-Schrivers, Cees Cornelisse, Eleonora P M Corssmit, Frederik Jan Hes, Jeroen C Jansen, Henricus P M Kunst, et al.

Germline mutations in the succinate dehydrogenase (SDHA, SDHB, SDHC, SDHD, SDHAF2) or Von Hippel-Lindau (VHL) genes cause hereditary paraganglioma/pheochromocytoma. While SDHB (1p36) and VHL (3p25) are associated with autosomal dominant disease, SDHD (11q23) and SDHAF2 (11q13) show a remarkable parent-of-origin effect whereby tumor formation is almost completely dependent on paternal transmission of the mutant allele. Loss of the entire ...

A Historical-Genetic Reconstruction of Human Extra-Pair Paternity KU Leuven

Maarten Larmuseau, Piet van den Berg, Sofie Claerhout, Michiel Vandenbosch, Ronny Decorte, Tom Wenseleers
Paternity testing using genetic markers has shown that extra-pair paternity (EPP) is common in many pair-bonded species [1, 2]. Evolutionary theory and empirical data show that extra-pair copulations can increase the fitness of males as well as females [3, 4]. This can carry a significant fitness cost for the social father, who then invests in rearing offspring that biologically are not his own [5]. In human populations, the incidence and ...

Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis Vrije Universiteit Brussel

Frederik Jan Hes, Dina Ruano, Marry Nieuwenhuis, Carli Mj Tops, Melanie Schrumpf, Maartje Nielsen, Petra E A Huijts, Juul T Wijnen, Anja Wagner, Encarna B Gómez García, et al.

BACKGROUND: Colorectal adenomatous polyposis is associated with a high risk of colorectal cancer (CRC) and is frequently caused by germline mutations in APC or MUTYH. However, in about 20-30% of patients no underlying gene defect can be identified. In this study, we tested if recently identified CRC risk variants play a role in patients with >10 adenomas.

METHODS: We analysed a total of 16 SNPs with a reported association with CRC ...

Baseline characteristics, chromosomal alterations, and treatment affecting prognosis of deletion 17p in newly diagnosed myeloma Vrije Universiteit Brussel

Maximilian Merz, Thomas Hielscher, Anja Seckinger, Dirk Hose, Elias K Mai, Marc S Raab, Hartmut Goldschmidt, Anna Jauch, Jens Hillengass

Deletion 17p13, del(17p), is associated with poor outcome in myeloma but some patients show long-term survival. With the current study we intended to identify factors impacting outcome of such high risk patients. We analyzed 110 newly diagnosed, symptomatic patients with del(17p) detected by fluorescence in situ hybridization (FISH) in CD138-purified myeloma cells to identify prognostic factors for survival. Age >65 years, ISS III, and ...

Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas Vrije Universiteit Brussel Universiteit Gent

Annelies Fieuw, Candy Kumps, Alexander Schramm, Filip Pattyn, Björn Menten, Francesca Antonacci, Peter Sudmant, Johannes Hubertus Schulte, Nadine Van Roy, Sarah Vergult, et al.

Neuroblastoma is an aggressive embryonal tumor that accounts for ∼15% of childhood cancer deaths. Hitherto, despite the availability of comprehensive genomic data on DNA copy number changes in neuroblastoma, relatively little is known about the genes driving neuroblastoma tumorigenesis. In this study, high resolution array comparative genome hybridization (CGH) was performed on 188 primary neuroblastoma tumors and 33 neuroblastoma cell lines ...

Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome Vrije Universiteit Brussel

Juul T Wijnen, Richard M Brohet, Ronald van Eijk, Shanty Jagmohan-Changur, Anneke Middeldorp, Carli Mj Tops, Mario van Puijenbroek, Margreet G E M Ausems, Encarna B Gómez García, Frederik Jan Hes, et al.

BACKGROUND & AIMS: Recent genome-wide association studies have identified common low-risk variants for colorectal cancer (CRC). To assess whether these influence CRC risk in the Lynch syndrome, we genotyped these variants in a large series of proven mutation carriers.

METHODS: We studied 675 individuals from 127 different families from the Dutch Lynch syndrome Registry whose mutation carrier status was known. We genotyped 8q24.21, ...

Translocation t(11;14) is associated with adverse outcome in patients with newly diagnosed AL amyloidosis when treated with bortezomib-based regimens Vrije Universiteit Brussel

Tilmann Bochtler, Ute Hegenbart, Christina Kunz, Martin Granzow, Axel Benner, Anja Seckinger, Christoph R Kimmich, Hartmut Goldschmidt, Anthony D Ho, Dirk Hose, et al.

PURPOSE: Bortezomib has become a cornerstone in the treatment of AL amyloidosis. In this study, we addressed the prognostic impact of cytogenetic aberrations for bortezomib-treated patients.

PATIENTS AND METHODS: We analyzed a consecutive series of 101 patients with AL amyloidosis treated with bortezomib-dexamethasone as first-line treatment by interphase fluorescence in situ hybridization (iFISH). Patients were ineligible for ...

Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers Vrije Universiteit Brussel

Z Ghorbanoghli, Marcel Nieuwenhuis, Jeanine J Houwing-Duistermaat, Shanty Jagmohan-Changur, Frederik Jan Hes, Carli M J Tops, Anne Wagner, Cora M Aalfs, S Verhoef, Encarna B Gómez García, et al.

Familial adenomatous polyposis (FAP) is a dominantly inherited syndrome caused by germline mutations in the APC gene and characterized by the development of multiple colorectal adenomas and a high risk of developing colorectal cancer (CRC). The severity of polyposis is correlated with the site of the APC mutation. However, there is also phenotypic variability within families with the same underlying APC mutation, suggesting that additional ...

Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations Vrije Universiteit Brussel

Jean-Pierre Bayley, Rogier A Oldenburg, Jennifer Nuk, Attje S Hoekstra, Conny A van der Meer, Esther Korpershoek, Barbara McGillivray, Eleonora P M Corssmit, Winand N M Dinjens, Ronald R de Krijger, et al.

BACKGROUND: The SDHD gene encodes a subunit of the mitochondrial tricarboxylic acid cycle enzyme and tumor suppressor, succinate dehydrogenase. Mutations in this gene show a remarkable pattern of parent-of-origin related tumorigenesis, with almost all SDHD-related cases of head and neck paragangliomas and pheochromocytomas attributable to paternally-transmitted mutations.

METHODS: Here we explore the underlying molecular basis of ...

Progression in smoldering myeloma is independently determined by the chromosomal abnormalities del(17p), t(4;14), gain 1q, hyperdiploidy, and tumor load Vrije Universiteit Brussel

Kai Neben, Anna Jauch, Thomas Hielscher, Jens Hillengass, Nicola Lehners, Anja Seckinger, Martin Granzow, Marc S Raab, Anthony D Ho, Hartmut Goldschmidt, et al.

PURPOSE: The aim of this study was to analyze chromosomal aberrations in terms of frequency and impact on time to progression in patients with smoldering multiple myeloma (SMM) on the background of clinical prognostic factors.

PATIENTS AND METHODS: The chromosomal abnormalities 1q21, 5p15/5q35, 9q34, 13q14.3, 15q22, 17p13, t(11;14)(q13;q32), and t(4;14)(p16.3;q32) were assessed in CD138-purified myeloma cells by interphase fluorescent ...