Ontology highlight
ABSTRACT:
PROVIDER: PRJNA698009 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:A clinically applicably strategy for molecular screening for Lynch Syndrome is being implemented in Denmark.
Based on sequential analysis with immunohistochemistry and methylation analysis, patients with possible hereditary colorectal cancer are identified. These patients are offered genetic risk assessment and counselling.
The study hypothesis is that molecular screening will identify more patients with Lynch Syndrome than the family history alone.
Prospective data collection is performed using established clinical databases.
| 2144211 | ecrin-mdr-crc
Project description:A clinically applicably strategy for molecular screening for Lynch Syndrome has been implemented in the Region of Southern Denmark.
Based on sequential analysis with immunohistochemistry and methylation analysis, patients with possible hereditary colorectal cancer are identified. These patients are offered genetic risk assessment and counselling.
The study hypothesis is that molecular screening will identify more patients with Lynch Syndrome than the family history alone.
Prospective data collection is performed using established clinical databases.
| 2096248 | ecrin-mdr-crc
Project description:Genetic Analysis of Limb Malformation Disorders: Miller Syndrome Exome Sequencing
| PRJNA74775 | ENA
Project description:Genetic Analysis of Limb Malformation Disorders: Miller Syndrome Exome Sequencing (MillerSyndrome)
| PRJNA74773 | ENA
Project description:Interventions: genetic testing for Lynch syndrome
Primary outcome(s): its usefulness for identification of Lynch syndrome patients
Study Design: Single arm Non-randomized
| 2629163 | ecrin-mdr-crc
Project description:A causal mediation analysis of DNA methylation as a mediator of nearby genetic association with Sjögren's syndrome using data collected from 131 female members of the Sjögren's International Collaborative Clinical Alliance registry, comprising of 64 Sjögren's syndrome cases and 67 non-cases.
2021-03-25 | GSE166373 | GEO
Project description:This study will maximize identification of women with Lynch Syndrome using an enhanced screening strategy to identify those at risk. These women will be referred to genetic counselling for testing and those found to have Lynch Syndrome will be asked to invite first degree relatives to participate and undergo genetic testing for Lynch Syndrome. Screening guidelines and risk reducing surgery options for participants found to have Lynch Syndrome will be reinforced by the study and adherence to these guidelines will be assessed annually for ten years following Lynch Syndrome diagnosis to assess the impact and cost-effectiveness of this enhanced screening approach.
| 2193899 | ecrin-mdr-crc
Project description:Rotor syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, near-absent hepatic uptake of anionic diagnostics, and coproporphyrinuria. The mechanistic basis of other hyperbilirubinemia syndromes is largely understood, but that of Rotor syndrome has remained enigmatic. The existing paradigm of hepatic bilirubin excretion postulates a unidirectional elimination pathway: Uptake of conjugated bilirubin from blood by hepatocytes, glucuronidation of bilirubin, and excretion of conjugated bilirubin into bile by ABCC2, a canalicular bilirubin-glucuronide and xenobiotic export pump. An analogous view holds for drugs conjugated in the liver. Here we demonstrate by molecular-genetic analysis of 8 Rotor-syndrome families that Rotor syndrome is a two-gene disorder, with impaired hepatic re-uptake of bilirubin-glucuronide caused by complete deficiencies in the hepatic organic anion transporting polypeptides OATP1B1 and OATP1B3.
2012-01-16 | GSE33733 | GEO
Project description:Kallmann syndrome is a genetically heterogeneous condition and a treatable form of male infertility. Defects in KAL1 gene have been implicated in Kallmann syndrome, which can be associated with X-linked ichthyosis in contiguous gene syndromes. In order to uncover the genetic cause of two brothers with Kallmann syndrome and X-linked ichthyosis, a custom semiconductor targeted resequencing panel to detect seventeen Kallmann syndrome causal genes and STS gene was designed. Next-generation sequencing was performed using this panel in the two affected brothers and their normal parents. To validate the result, we applied CytoScan™ HD array, quantitative real-time PCR and direct PCR electrophoresis analysis with the participants. The patients received clinical assessment, human chorionic gonadotropin treatment and follow-up for 39 months. The results showed that the two affected siblings have the same de novo deletion at Xp22.3 including exons 9-14 of KAL1 gene and entire STS gene but showed different phenotypes in some respects. The secondary sex characteristics of the patients were greatly improved after treatment. We firstly reported that a de novo homozygous deletion contribute to KS with bilateral cryptorchidism and unilateral renal agenesis or normal kidney development and developed a cost-effective and reliable semiconductor targeted resequencing panel for genetic diagnosis of Kallmann syndrome in routinely obtained samples.
2015-12-05 | GSE58793 | GEO
Project description:Heredity is a major risk factor for ovarian cancer, but many families escape detection. Refined diagnosis of ovarian cancers linked to the breast and ovarian cancer (HBOC) syndrome and the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome would allow cancer prevention in high risk families. In order to delineate genetic profiles of hereditary ovarian cancer, we applied genome wide array comparative genomic hybridization to 24 sporadic tumors, 12 HBOC associated tumors (BRCA1 mutations) and eight HNPCC associated tumors (mismatch repair gene mutations). Unsupervised cluster analysis identified two distinctive clusters related to genetic complexity. Most sporadic and HBOC associated tumors had complex genetic profiles with multiple gains and losses with an average of 41% of the genome altered, whereas mismatch repair defective tumors had stable genetic profiles, with an average of 18% of the genome altered. Losses of 4q34, 13q12-q32 and 19p13 were overrepresented in the HBOC subset, gains of chromosomes 17 and 19 characterized the HNPCC tumors and gains of 20q11 were more common in the sporadic tumors. The genetic distinction between HBOC and HNPCC associated ovarian cancer suggests that genetic profiles can be applied for refined classification of hereditary cases and reflects tumor development along different genetic pathways.
2011-04-27 | GSE28850 | GEO