References of "BOURS, Vincent"
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See detailExome copy number variation detection: Use of a pool of unrelated healthy tissue as reference sample
Wenric, Stéphane ULg; Sticca, Tiberio ULg; CABERG, Jean-Hubert ULg et al

in Genetic Epidemiology (2017)

An increasing number of bioinformatic tools designed to detect CNVs (copy number variants) in tumor samples based on paired exome data where a matched healthy tissue constitutes the reference have been ... [more ▼]

An increasing number of bioinformatic tools designed to detect CNVs (copy number variants) in tumor samples based on paired exome data where a matched healthy tissue constitutes the reference have been published in the recent years. The idea of using a pool of unrelated healthy DNA as reference has previously been formulated but not thoroughly validated. As of today, the gold standard for CNV calling is still aCGH but there is an increasing interest in detecting CNVs by exome sequencing. We propose to design a metric allowing the comparison of two CNV profiles, independently of the technique used and assessed the validity of using a pool of unrelated healthy DNA instead of a matched healthy tissue as reference in exome-based CNV detection. We compared the CNV profiles obtained with three different approaches (aCGH, exome sequencing with a matched healthy tissue as reference, exome sequencing with a pool of eight unrelated healthy tissue as reference) on three multiple myeloma samples. We show that the usual analyses performed to compare CNV profiles (deletion/amplification ratios and CNV size distribution) lack in precision when confronted with low LRR values, as they only consider the binary status of each CNV. We show that the metric-based distance constitutes a more accurate comparison of two CNV profiles. Based on these analyses, we conclude that a reliable picture of CNV alterations in multiple myeloma samples can be obtained from whole-exome sequencing in the absence of a matched healthy sample. [less ▲]

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See detailGenomic Studies of Multiple Myeloma Reveal an Association between X Chromosome Alterations and Genomic Profile Complexity.
Sticca, Tiberio ULg; CABERG, Jean-Hubert ULg; Wenric, Stéphane ULg et al

in Genes, Chromosomes & Cancer (2017)

The genomic profile of multiple myeloma (MM) has prognostic value by dividing patients into a good prognosis hyperdiploid group and a bad prognosis non-hyperdiploid group with a higher incidence of IgH ... [more ▼]

The genomic profile of multiple myeloma (MM) has prognostic value by dividing patients into a good prognosis hyperdiploid group and a bad prognosis non-hyperdiploid group with a higher incidence of IgH translocations. This classification, however, is inadequate and many other parameters like mutations, epigenetic modifications and genomic heterogeneity may influence the prognosis. We performed a genomic study by array-based comparative genomic hybridization (aCGH) on a cohort of 162 patients to evaluate the frequency of genomic gains and losses. We identified a high frequency of X chromosome alterations leading to partial Xq duplication, often associated with Xi deletion in female patients. This partial X duplication could be a cytogenetic marker of aneuploidy as it is correlated with a high number of chromosomal breakages. Patient with high level of chromosomal breakage had reduced survival regardless the region implicated. A higher transcriptional level was shown for genes with potential implication in cancer and located in this altered region. Among these genes, IKBKG and IRAK1 are members of the NFKB pathway which plays an important role in MM and is a target for specific treatments. [less ▲]

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See detailInvolvement of Ikbζ in glioblastomas and its potential implication in radioresistance
Dubois, Nadège ULg; Willems, Marie; Kroonen, Jérôme et al

Poster (2016, November 29)

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See detailSomatic mosaicism is implicated in the etiology of XLAG syndrome
Rostomyan, Liliya ULg; Daly, Adrian ULg; Yuan, Bo et al

in 26nd meeting of the Belgian Endocrine Society - Abstract book (2016, October)

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See detailInvolvement of Ikbζ in glioblastomas and its potential implication in radioresistance
Dubois, Nadège; Willems, Marie; Kroonen, Jérôme et al

Poster (2016, September 09)

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See detailThe influence of COMT single nucleotide polymorphism (rs4680) on the neural substrates of working memory representations maintenance in healthy aging
Manard, Marine ULg; François, Sarah ULg; Bahri, Mohamed Ali ULg et al

Poster (2016, May 10)

The COMT val108/158met polymorphism was associated to the dopaminergic modulation in the brain, and therefore stimulated research on its influence for cognitive functioning and particularly working memory ... [more ▼]

The COMT val108/158met polymorphism was associated to the dopaminergic modulation in the brain, and therefore stimulated research on its influence for cognitive functioning and particularly working memory. First, a general advantage of carrying the met allele was reported. However, many studies used tasks that did not allow efficiently assessing the contribution of manipulation and maintenance processes in working memory, leading to divergent results, in both young and older populations, resulting in debates about the exact phenotypic effect of the COMT polymorphism. Using fMRI, this study was designed to assess the potential effect of the COMT polymorphism on age-related differences in working memory representations maintenance abilities (Sternberg paradigm). Partial Least Squares method was used to determine the brain-behavior correlations at low, intermediate, and high cognitive demands among young and older groups, homozygous for the val or for the met allele. First, young val/val showed some disadvantages at brain and behavioral level compared to their m/m counterparts. However, in older adults subgroups, the m/m participants tended to show greater age-related difference (when compared to younger adults with similar genotype), suggesting an advantage in carrying the val allele when dopamine signaling is not at optimal efficiency (optimal: young/middle adulthood vs suboptimal: childhood or older ages). These results will be discussed in regard to compensating theories and dopaminergic models accounting for the potential effect of COMT polymorphism on stability/flexibility abilities. [less ▲]

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See detailGenetic predisposition to breast cancer occurring in a male-to-female transsexual patient
Potorac, Iulia ULg; CORMAN, Vinciane ULg; Manto, Florence et al

Poster (2016, May)

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See detailSomatic mosaicism underlies X-linked acrogigantism (XLAG) syndrome in sporadic male subjects
Daly, Adrian ULg; Yuan, Bo; Fina, Frederic et al

in Endocrine-Related Cancer (2016)

Somatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently characterized genomic form of pediatric ... [more ▼]

Somatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently characterized genomic form of pediatric gigantism due to aggressive pituitary tumors that is caused by submicroscopic chromosome Xq26.3 duplications that include GPR101. We studied XLAG syndrome patients (N=18) to determine if somatic mosaicism contributed to the genomic pathophysiology. Eighteen subjects with XLAG syndrome were identified with Xq26.3 duplications using high definition array comparative genome hybridization (HD-aCGH). We noted males with XLAG had a decreased log2 ratio compared with expected values, suggesting potential mosaicism, while females showed no such decrease. As compared with familial male XLAG cases, sporadic males had more marked evidence for mosaicism, with levels of Xq26.3 duplication between 16.1-53.8%. These characteristics were replicated using a novel, personalized breakpoint-junction specific quantification droplet digital PCR (ddPCR) technique. Using a separate ddPCR technique we studied the feasibility of identifying XLAG syndrome cases in a distinct patient population of 64 unrelated subjects with acromegaly/gigantism and identified one female gigantism patient that had increased copy number variation (CNV) threshold for GPR101 that was subsequently diagnosed as having XLAG syndrome on HD-aCGH. Employing a combination of HD-aCGH and novel ddPCR approaches, we have demonstrated that XLAG syndrome can be caused by variable degrees of somatic mosaicism for duplications at chromosome Xq26.3. Somatic mosaicism was shown to occur in sporadic males but not in females with XLAG syndrome, although the clinical characteristics of the disease were similarly severe in both sexes. [less ▲]

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See detailDouble genetic defect in a case of congenital hypogonadotropic hypogonadism
Potorac, Iulia ULg; Pintiaux, Axelle ULg; VALDES SOCIN, Hernan Gonzalo ULg et al

in Abstract book - 17th World Congress of Gynecological Endocrinology (2016, March)

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See detailUne forme compliquée d'hypercalcémie hypocalciurique familiale
Potorac, Iulia ULg; BETEA, Daniela ULg; MALAISE, Olivier ULg et al

in Abstract book - Symposium "Perspectives in Endocrinology" (2016, January)

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See detailThe genetic causes of pituitary gigantism
Rostomyan, Liliya ULg; Lysy, P; Desfilles, C et al

in Abstract book - Symposium "Perspectives in Endocrinology" (2016, January)

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See detailConstitutive activation of casein kinase 2 in glioblastomas: Absence of class restriction and broad therapeutic potential.
Dubois, Nadege; Willems, Marie; Nguyen-Khac, Minh-Tuan et al

in International Journal of Oncology (2016), 48(6), 2445-52

Casein kinase II contributes to the growth and survival of malignant gliomas and attracts increasing attention as a therapeutic target in these tumors. Several reports have suggested that this strategy ... [more ▼]

Casein kinase II contributes to the growth and survival of malignant gliomas and attracts increasing attention as a therapeutic target in these tumors. Several reports have suggested that this strategy might be most relevant for specific subgroups of patients, namely Verhaak's classical and TP53 wild-type tumors. Using kinase assays and microarray genetic profiling in a series of 27 proprietary fresh frozen surgical glioma samples, we showed that constitutive CK2 kinase activation is not restricted to tumors that present increased copy numbers or mRNA expression of its catalytic or regulatory subunits, and can result from a functional activation by various cytokines from the glioma microenvironment. Using corresponding primary tumor and human astrocyte cell cultures as well as glioma cell lines, we confirmed that CK2 inhibition is selectively toxic to malignant glial tumors, without any restriction to tumor class or to TP53 status. We finally showed that while the contribution of CK2 to the constitutive NF-kappaB hyperactivation in malignant gliomas is at best moderate, a delayed activation of NF-kappaB may associate with the therapeutic resistance of glioma cells to CK2 inhibition. [less ▲]

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See detailInvolvement of Ikbζ in glioblastomas and its potential implication in radioresistance
Dubois, Nadège ULg; Willems, Marie; Kroonen, Jérôme et al

Poster (2016)

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See detailCancer thyroïdien familial non médullaire : actualités cliniques et génétiques
VALDES SOCIN, Hernan Gonzalo ULg; Gonon Rodrigues Palmeira, Leonor ULg; Burlacu, MC et al

in Revue Médicale de Liège (2016), 71

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See detailMicroRNAs and Inflammation in Colorectal Cancer.
Josse, Claire ULg; Bours, Vincent ULg

in Slaby, Ondrej; Calin, George A. (Eds.) Non-coding RNAs in Colorectal Cancer (2016)

Colorectal cancers (CRC) are known to be related to inflammatory conditions, and inflammatory bowel diseases increase the relative risk for developing CRC. The use of anti-inflammatory drugs prevents the ... [more ▼]

Colorectal cancers (CRC) are known to be related to inflammatory conditions, and inflammatory bowel diseases increase the relative risk for developing CRC. The use of anti-inflammatory drugs prevents the development of colorectal cancer.Several molecular mediators are connecting the pathways that are involved in inflammatory conditions and in carcinogenesis. By the way these pathways are tightly interwoven, with the consequence that a deregulation at the level of any of these molecular mediators can affect the others.MiRNAs are demonstrated to be deregulated in inflammatory bowel diseases and in colorectal cancer. Moreover, they target several molecular mediators that connect inflammation to cancer, and they are thus implicated in the route from inflammation to colorectal cancer.This chapter will focus on the miRNAs that are jointly deregulated in inflammatory bowel disease and in colorectal cancer. Their role on the regulation of the molecular mediators and pathways that link inflammation to cancer will be described. [less ▲]

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See detailBreast cancer in a male to female transsexual patient with a BRCA2 mutation
CORMAN, Vinciane ULg; Potorac, Iulia ULg; Manto, Florence ULg et al

in Endocrine-Related Cancer (2016), 23(5), 391-397

Breast cancer is rare in male patients. Certain predisposing factors, be they genetic (e.g., BRCA2 gene mutations) or hormonal (imbalance between estrogen and androgen levels), have been implicated in ... [more ▼]

Breast cancer is rare in male patients. Certain predisposing factors, be they genetic (e.g., BRCA2 gene mutations) or hormonal (imbalance between estrogen and androgen levels), have been implicated in male breast cancer pathophysiology. Male-to-female (MtF) transsexualism is a condition that generally involves cross-sex hormone therapy. Anti-androgens and estrogens are used to mimic the female hormonal environment and induce the cross-sex secondary characteristics. In certain situations, the change in the hormonal milieu can be disadvantageous and favor the development of hormonedependent pathologies, such as cancer. We report a case of a MtF transgender patient who developed breast cancer after 7 years of cross-sex hormonal therapy. The patient was found to be BRCA2 positive, and suffered recurrent disease. The patient was unaware of being a member of an established BRCA2 mutation-positive kindred. This represents the first case of a BRCA2 mutation predisposing to breast cancer in a MtF transgender patient. [less ▲]

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See detailGrowth hormone releasing hormone excess and blockade in X-LAG syndrome.
Daly, Adrian Francis ULg; Lysy, Philippe; Defilles, Celine et al

in Endocrine-related cancer (2016)

X-linked acrogigantism (X-LAG) syndrome is a newly-described form of inheritable pituitary gigantism that begins in early childhood and is usually associated with markedly elevated growth hormone (GH) and ... [more ▼]

X-linked acrogigantism (X-LAG) syndrome is a newly-described form of inheritable pituitary gigantism that begins in early childhood and is usually associated with markedly elevated growth hormone (GH) and prolactin secretion by mixed pituitary adenomas/hyperplasia. Microduplications on chromosome Xq26.3 including the GPR101 gene cause X-LAG syndrome. In individual cases random GH-releasing hormone (GHRH) levels have been elevated. We performed a series of hormonal profiles in a young female sporadic X-LAG syndrome patient and subsequently undertook in vitro studies of primary pituitary tumor culture following neurosurgical resection. The patient demonstrated consistently elevated circulating GHRH levels throughout preoperative testing, which was accompanied by marked GH and prolactin hypersecretion; GH demonstrated a paradoxical increase following TRH administration. In vitro, the pituitary cells showed baseline GH and prolactin release that was further stimulated by GHRH administration. Co-incubation with GHRH and the GHRH receptor antagonist, acetyl-(D-Arg(2))-GHRH (1-29) amide, blocked the GHRH-induced GH stimulation; the GHRH receptor antagonist alone significantly reduced GH release. Pasireotide, but not octreotide, inhibited GH secretion. A ghrelin receptor agonist and an inverse agonist led to modest, statistically significant increases and decreases in GH secretion, respectively. GHRH hypersecretion can accompany the pituitary abnormalities seen in X-LAG syndrome. These data suggest that the pathology of X-LAG syndrome may include hypothalamic dysregulation of GHRH secretion, which is in keeping with localization of GPR101 in the hypothalamus. Therapeutic blockade of GHRH secretion could represent a way to target the marked hormonal hypersecretion and overgrowth that characterizes X-LAG syndrome. [less ▲]

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