IL‐7 germline variant: setting the stage for immune‐related adverse events
Sign Up to like & getrecommendations! Published in 2023 at "Molecular Oncology"
DOI: 10.1002/1878-0261.13392
Abstract: Treatment with immune checkpoint inhibitors (ICIs) is frequently associated with immune‐related adverse events (irAEs). A new study identified an interleukin 7 (IL‐7) allelic variant—rs16906115—as a major risk factor for the development of ICI‐associated irAEs. This… read more here.
Keywords: variant setting; germline variant; immune related; related adverse ... See more keywords
GATA3 germline variant is associated with CRLF2 expression and predicts outcome in pediatric B‐cell precursor acute lymphoblastic leukemia
Sign Up to like & getrecommendations! Published in 2019 at "Genes"
DOI: 10.1002/gcc.22748
Abstract: The germline variant at rs3824662 in GATA3 is a risk locus for Philadelphia‐like acute lymphoblastic leukemia (Ph‐like ALL), the biological subtype of B‐cell precursor (BCP)‐ALL defined by a distinct gene expression profile and the presence… read more here.
Keywords: germline variant; expression; crlf2 expression; gata3 ... See more keywords
Characterization of a germline variant MSH6 c.4001G > C in a Lynch syndrome family
Sign Up to like & getrecommendations! Published in 2023 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2104
Abstract: Germline variants in the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2) cause Lynch syndrome, an autosomal dominant hereditary cancer susceptibility syndrome. The risk for endometrial cancer is significantly higher in women with… read more here.
Keywords: variant msh6; germline variant; germline; lynch syndrome ... See more keywords
A germline variant of TP53 in paediatric diffuse leptomeningeal glioneuronal tumour
Sign Up to like & getrecommendations! Published in 2019 at "Child's Nervous System"
DOI: 10.1007/s00381-019-04128-w
Abstract: PurposeDiffuse leptomeningeal glioneuronal tumour (DLGNT) is an extremely rare tumour involving the neuroaxis. At present, its exact pathogenesis and associated factors remain incompletely characterised. Recent molecular investigations in a small cohort have offered some insights… read more here.
Keywords: leptomeningeal glioneuronal; germline variant; glioneuronal tumour; germline ... See more keywords
Germline variant testing in serrated polyposis syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Gastroenterology and Hepatology"
DOI: 10.1111/jgh.15791
Abstract: Serrated polyposis syndrome (SPS) is now known to be the commonest polyposis syndrome. Previous analyses for germline variants have shown no consistent positive findings. To exclude other polyposis syndromes, 2019 British Society of Gastroenterology (BSG)… read more here.
Keywords: germline variant; gastroenterology; serrated polyposis; polyposis ... See more keywords
Abstract 2067: Rapid somatic and germline variant detection using the novel G4 sequencing platform and GPU acceleration
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-2067
Abstract: Introduction: There remains a need to reduce next-generation sequencing (NGS) turnaround for time-sensitive applications. Reducing turnaround requires faster sequencing and accelerated data analysis. We recently introduced the Singular Genomics G4TM platform for rapid sequencing-by-synthesis (SBS),… read more here.
Keywords: germline variant; variant detection; gpu; detection ... See more keywords
A Novel ARMC5 Germline Variant in Primary Macronodular Adrenal Hyperplasia Using Whole-Exome Sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Diagnostics"
DOI: 10.3390/diagnostics12123028
Abstract: Background: Primary macronodular adrenocortical hyperplasia (PMAH) is a rare form of adrenal Cushing’s syndrome with incomplete penetrance which may be sporadic or autosomal dominant. The inactivation of the ARMC5 gene, a potential tumor suppressor gene,… read more here.
Keywords: germline variant; whole exome; variant; primary macronodular ... See more keywords