Categoría: Open access
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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 germline …
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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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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…
-
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…
-
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,…
-
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
PurposeTumour 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&rs…
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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&…