Etiqueta: #JMedGenet
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Molecular sleuthing: unmasking hidden lymphomas through plasma DNA sequencing
Diagnosing lymphomas can be challenging, particularly in atypical presentations lacking histological confirmation. We report two cases where next-generation sequencing of plasma cell-free DNA (cfDNA) enabled the early detection of diffuse large B-cell…
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The SINEs were there: identification of a pathogenic Alu insertion in a patient with DICER1-related tumour predisposition
DICER1-related tumour predisposition (DRTP) is an autosomal dominant disorder marked by increased risk of benign and malignant tumours across multiple organ systems. A genetic diagnosis of DRTP requires identification of a (likely) pathogenic germli…
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Molecular sleuthing: unmasking hidden lymphomas through plasma DNA sequencing
Diagnosing lymphomas can be challenging, particularly in atypical presentations lacking histological confirmation. We report two cases where next-generation sequencing of plasma cell-free DNA (cfDNA) enabled the early detection of diffuse large B-cell…
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Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2
Schaaf-Yang syndrome and Prader-Willi syndrome are imprinting disorders that result from the disruption of paternally expressed genes within the 15q11-q13 region. Both conditions present with overlapping clinical features including developmental delay…
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Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2
Schaaf-Yang syndrome and Prader-Willi syndrome are imprinting disorders that result from the disruption of paternally expressed genes within the 15q11-q13 region. Both conditions present with overlapping clinical features including developmental delay…
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Perspectives of adolescents and young adults with advanced cancer on complete genomic analysis in standard oncology care
Purpose Tumour genomic profiling, including whole genome sequencing (WGS), offers opportunities for refined diagnosis and personalised treatment for adolescents and young adults (AYAs) with advanced or poor prognostic cancer. This study explores AYAs&…
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Perspectives of adolescents and young adults with advanced cancer on complete genomic analysis in standard oncology care
Purpose Tumour genomic profiling, including whole genome sequencing (WGS), offers opportunities for refined diagnosis and personalised treatment for adolescents and young adults (AYAs) with advanced or poor prognostic cancer. This study explores AYAs&…
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Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants
Background This study aimed to analyse the distribution and genotype-phenotype correlations of pathogenic variants among 11 509 newborns carrying at least one common deafness-associated variant. Methods A genotype distribution analysis was performed …
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Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome
Background Potocki-Lupski syndrome (PTLS) is a rare genetic disorder, with an estimated prevalence of 1:25 000. Detection of a duplication at position 17p11.2 comprising the RAI1 gene establishes the diagnosis. Deletion of this same region is responsi…
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Colonoscopy surveillance in Lynch syndrome: what it prevents and what it does not
Lynch syndrome (LS), synonymous with hereditary non-polyposis colorectal cancer (HNPCC), is caused by germline pathogenic variants in MLH1, MSH2, MSH6 or PMS2, which confer an elevated lifetime risk of colorectal cancer (CRC). Since the early 2000s, c…