À propos d’un mécanisme rare d’aniridie, la délétion d’un élément régulateur du gène PAX6 identifiée par CGH-array

Morphologie ◽  
2018 ◽  
Vol 102 (338) ◽  
pp. 141-142
Author(s):  
Kévin Cassinari ◽  
Géraldine Joly-Hélas ◽  
Laetitia Trestard ◽  
Brigitte Leduc ◽  
Bertrand Macé ◽  
...  
Keyword(s):  
Cgh Array

CGH array analysis of pituitary tumors revealed a highly-disrupted genome

2018 ◽  
Author(s):  
Helene Lasolle ◽  
Mad-Helenie Elsensohn ◽  
Eudeline Alix ◽  
Clement Bonnefille ◽  
Jessica Michel ◽  
...  
Keyword(s):  
Pituitary Tumors ◽  
Cgh Array ◽  
Array Analysis

Analysis of Amplified Genes in Samples of Pleomorphic Adenoma and Carcinoma Ex Pleomorphic Adenoma by CGH-Array Technique

2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S51-S51
Author(s):  
Erika Egal ◽  
Welligton Sabino ◽  
João Scarini ◽  
Reydson Souza ◽  
Albina Altemani ◽  
...  
Keyword(s):  
Pleomorphic Adenoma ◽  
Malignant Transformation ◽  
Genetic Disorders ◽  
Benign Lesion ◽  
Carcinoma Ex Pleomorphic Adenoma ◽  
Low Grade ◽  
Cgh Array ◽  
Microsoft Excel ◽  
Histopathological Subtype ◽  
Common Target

Abstract Introduction Pleomorphic adenoma (PA) is a benign lesion of the salivary glands that can suffer malignant transformation to carcinoma ex adenoma pleomorphic (CXPA). The pathogenesis of CXPA has been attributed to the accumulation of genetic disorders in preexisting PAs. However, there is no confirmation whether there is a common target gene involved in all histopathological subtypes or the decisive factors for malignant transformation in a histopathological subtype are specific. Objectives To further analyze genes found in PA and CXPA using the CGH-array technique. The genes found were analyzed using the InteractiVenn virtual tool (http://www.interactivenn.net/) and grouped into a Microsoft Excel worksheet. Results: Of the 460 genes amplified in the studied samples, 287 (62.4%) were related only to CXPA, whereas 144 (31.3%) were related to residual PA. Twenty-nine (6.3%) of these genes were common between residual PA and CXPA. Regarding the degree of invasion of CXPA, there was an increase in the number of genes amplified as the degree of invasion and aggression increased: 8 genes related to intracapsular CXPA, 65 to minimally invasive CXPA, and 373 to weakly invasive. Moreover, when comparing residual AP and intracapsular CXPA, two genes were common to these groups: ERRB2 and GRB7. As for the histological subtype, the high-grade samples had more amplifications (320 amplified genes) than the low-grade ones (129 genes). Three of these genes were common among residual PAs and CXPA: HMGA2, RPSAP52, and LOC100129940. As for the replicates, MYNC, ERBB2, BRIP1, and HMGA2 were the most repeated amplified genes in the residual PAs. HMGA2, ERRBB2, CDK12, RPSAP52, LOC100129940, and LOC100507250 were the genes with the most replicates in CXPA. Conclusion HMGA2, ERRB2, and RPSAP52 may play a key role in PA carcinogenesis, whereas GRB7, CDK12, MYNC, and BRIP1 appear to act as coadjutants.

scholarly journals Genome-Wide Scan for Copy Number Alteration Association with Relapse-Free Survival in Colorectal Cancer with Liver Metastasis Patients

2018 ◽  
Vol 7 (11) ◽  
pp. 446 ◽  
Author(s):  
Po-Sheng Yang ◽  
Hsi-Hsien Hsu ◽  
Tzu-Chi Hsu ◽  
Ming-Jen Chen ◽  
Cin-Di Wang ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Liver Metastasis ◽  
Liver Metastases ◽  
Copy Number ◽  
Copy Number Alteration ◽  
Gene Signature ◽  
Comparative Genomic ◽  
Relapse Free Survival ◽  
Cgh Array ◽  
Free Survival

Predicting a patient’s risk of recurrence after the resection of liver metastases from colorectal cancer is critical for evaluating and selecting therapeutic approaches. Clinical and pathologic parameters have shown limited accuracy thus far. Therefore, we combined the clinical status with a genomic approach to stratify relapse-free survival in colorectal cancer liver metastases patients. To identify new molecular and genetic signatures specific to colorectal cancer with liver metastasis (CRCLM) patients, we conducted DNA copy number profiling on a cohort of 21 Taiwanese CRCLM patients using a comparative genomic hybridization (CGH) array. We identified a three-gene signature based on differential copy number alteration between patients with different statuses of (1) recurrence and (2) synchronous metastasis. In relapse hotspot regions, only three genes (S100PBP, CSMD2, and TGFBI) were significantly associated with the synchronous liver metastasis factor. A final set of three genes—S100PBP, CSMD2, TGFBI—significantly predicted relapse-free survival in our cohort (p = 0.04) and another CRCLM cohort (p = 0.02). This three-gene signature is the first genomic signature validated for relapse-free survival in post-hepatectomy CRCLM patients. Our three-gene signature was developed using a whole-genome CGH array and has a good prognostic position for the relapse-free survival of CRCLM patients after hepatectomy.

scholarly journals Recherche de variants génétiques de vulnérabilité à l’épilepsie chez des familles Algériennes

2017 ◽  
Vol 1 (1) ◽  
Author(s):  
Amina Chentouf ◽  
Mohand Laid Oubaiche ◽  
Malika Chaouch
Keyword(s):  
Sex Ratio ◽  
De Novo ◽  
Cgh Array

Objectifs - Cette étude vise à caractériser des familles comptant plusieurs indivi-dus épileptiques, à étudier les modes de transmission de l’épilepsie au sein de ces familles, à rechercher des variants génétiques de vulnérabilité à l’épilepsie, et à analyser les relations génotype/phénotype.Matériels et méthodes - Des familles multiplex ont été recrutées au service de neu-rologie du CHU d’Oran entre décembre 2011 et décembre 2016. Tous les participants ont été évalués cliniquement et ont bénéficié d’EEG et d’IRM cérébrales. Les syn-dromes épileptiques ont été classés selon les recommandations de la ligue interna-tionale contre l’épilepsie (LICE) et les modes de transmission ont été déterminés à travers l’analyse généalogique. Après extraction de l’ADN génomique, des variants génétiques de susceptibilité à l’épilepsie ont été recherchés par hybridation géno-mique comparative sur micro-réseaux d’ADN (CGH-array) et par séquençage de nou-velle génération (NGS).Résultats - Soixante cinq familles épileptiques ont participé à cette étude. L’âge moyen de début de la maladie était de 9.5 ± 6.1 ans avec une légère prédominance masculine (sex-ratio : 1.35). Les crises généralisées étaient légèrement plus fré-quentes que les crises focales (50% vs. 40%). Le taux de consanguinité parentale était de 50%. Une concordance phénotypique a été constatée dans 2/3 des familles. En tenant compte de l’analyse des pedigrees, l’épilepsie était transmise sur un mode au-tosomique dominant (AD)dans 29 familles (44.6%) et sur un mode autosomique réces-sif (AR)dans 23 familles (35.4%). Les analyses génétiques ont permis d’identifier des mutations du gène EPM1 chez des patients atteints d’épilepsie myoclonique progres-sive, une mutation du gène RELN chez des individus avec épilepsie du lobe temporal (ELT) et schizophrénie, ainsi que des variations du nombre de copies d’ADN (CNVs) bénignes et pathogènes. Par ailleurs,une mutation de novo (p.A39E) dans le gène GAL a été identifiée chez des jumeaux monozygotes atteints d’ELT, avec confirmation de l’implication du peptide muté dans le phénotype épileptique par des études in silico.Conclusion -Cette étude a permis dedresser le phénotype et déterminer le mode de transmission de l’épilepsie chez des familles algériennes multiplex, et d’identifier des variants génétiques connus mais aussi des néomutations intéressantes.

scholarly journals Peritoneal Mesothelioma with Residential Asbestos Exposure. Report of a Case with Long Survival (Seventeen Years) Analyzed by Cgh-Array

2017 ◽  
Vol 18 (8) ◽  
pp. 1818 ◽  
Author(s):  
Gabriella Serio ◽  
Federica Pezzuto ◽  
Andrea Marzullo ◽  
Anna Scattone ◽  
Domenica Cavone ◽  
...  
Keyword(s):  
Asbestos Exposure ◽  
Peritoneal Mesothelioma ◽  
Cgh Array ◽  
Long Survival

CGH Array and Karyotype as Complementary Tools in Prenatal Diagnosis: Prenatal Diagnosis of a 4q Derivative Chromosome from Maternal 4q;11q Translocation

2018 ◽  
Vol 37 (3) ◽  
pp. 184-190 ◽  
Author(s):  
Cristina Gonzalez ◽  
Miriam Gutierrez Serrano ◽  
Carmen Barbancho Lopez ◽  
Taida Garcia-Riaño ◽  
Vanesa Barea Calero ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Derivative Chromosome ◽  
Cgh Array

scholarly journals PAM50 and CGH-array genomic characterization of HER2-equivocal breast cancers defined by the 2018 ASCO/CAP recommendations

2019 ◽  
Vol 30 ◽  
pp. v87
Author(s):  
C. Ngo ◽  
E. Borcoman ◽  
A. Rapinat ◽  
F. Simaga ◽  
N. Mouterfi ◽  
...  
Keyword(s):  
Breast Cancers ◽  
Cgh Array ◽  
Genomic Characterization

Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome

2014 ◽  
Vol 35 (1) ◽  
pp. 97-99 ◽  
Author(s):  
Valentina D'Ambrosio ◽  
Carmela Votino ◽  
Teresa Cos ◽  
Sebastien Boulanger ◽  
Annelies Dheedene ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Cgh Array ◽  
Ellis Van Creveld Syndrome

scholarly journals Patients Carrying 9q31.1-q32 Deletion Share Common Features with Cornelia de Lange Syndrome

2015 ◽  
Vol 35 (1) ◽  
pp. 270-280 ◽  
Author(s):  
Ruixue Cao ◽  
Tian Pu ◽  
Shaohai Fang ◽  
Fei Long ◽  
Jing Xie ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Limb Development ◽  
Cornelia De Lange Syndrome ◽  
Pcr Analysis ◽  
Cgh Array ◽  
Whole Exome ◽  
Cornelia De Lange ◽  
Development Objectives ◽  
Structural Maintenance Of Chromosomes

Background: Cornelia de Lange Syndrome (CdLS) is a rare but severe clinically heterogeneous developmental disorder characterized by facial dysmorphia, growth and cognitive retardation, and abnormalities of limb development. Objectives: To determine the pathogenesis of a patient with CdLS. Methods: We studied a patient with CdLS by whole exome sequencing, karyotyping and Agilent CGH Array. The results were confirmed by quantitative real-time PCR analysis of the patient and her parents. Further comparison of our patient and cases with partially overlapping deletions retrieved from the literature and databases was undertaken. Results: Whole exome sequencing had excluded the mutation of cohesion genes such as NIPBL,SMC1A and SMC3. The result of karyotyping showed a deletion of chromosome 9q31.1-q32 and the result of Agilent CGH Array further displayed a 12.01-Mb region of deletion at chromosome bands 9q31.1-q32. Reported cases with the deletion of 9q31.1-q32 share similar features with our CdLS patient. One of the genes in the deleted region, SMC2, belongs to the Structural Maintenance of Chromosomes (SMC) family and regulates gene expression and DNA repair. Conclusions: Patients carrying the deletion of 9q31.1-q32 showed similar phenotypes with CdLS.

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