Widespread Selection for Oncogenic Mutant Allele Imbalance in Cancer.
Sign Up to like & getrecommendations! Published in 2018 at "Cancer cell"
DOI: 10.1016/j.ccell.2018.10.003
Abstract: Driver mutations in oncogenes encode proteins with gain-of-function properties that enhance fitness. Heterozygous mutations are thus viewed as sufficient for tumorigenesis. We describe widespread oncogenic mutant allele imbalance in 13,448 prospectively characterized cancers. Imbalance was… read more here.
Keywords: imbalance; selection; allele imbalance; mutant allele ... See more keywords
A New Cost-efficient Single Nucleotide Polymorphism (SNP) Preimplantation Genetic TESTING (PGT) Assay for Beta-thalassaemia and simultaneous use with Preimplantation Genetic Screening (PGS)
Sign Up to like & getrecommendations! Published in 2019 at "Reproductive BioMedicine Online"
DOI: 10.1016/j.rbmo.2019.03.080
Abstract: Introduction Thalassaemia affects 4.5% of the population in Malaysia. Complications of β- thalassaemia major in children pose a heavy load on transfusion and paediatric services. Preimplantation Genetic Diagnosis (PGD) in conjunction with IVF to avoid… read more here.
Keywords: preimplantation genetic; heterozygous carrier; mutant allele; wild type ... See more keywords
BRAF Gene Copy Number and Mutant Allele Frequency Correlate with Time to Progression in Metastatic Melanoma Patients Treated with MAPK Inhibitors
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Cancer Therapeutics"
DOI: 10.1158/1535-7163.mct-17-1124
Abstract: Metastatic melanoma is characterized by complex genomic alterations, including a high rate of mutations in driver genes and widespread deletions and amplifications encompassing various chromosome regions. Among them, chromosome 7 is frequently gained in BRAF-mutant… read more here.
Keywords: melanoma; braf mutant; copy number; mapk inhibitors ... See more keywords
Abstract 3871: KRAS G12C mutant allele amplification drives resistance to sotorasib in vitro
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-3871
Abstract: Sotorasib is an approved KRASG12C-selective inhibitor for the treatment of KRAS p.G12C-mutant advanced and previously treated non-small cell lung cancers (NSCLC). Acquired resistance due to genomic alterations following sotorasib treatment has been observed in 28%… read more here.
Keywords: kras g12c; amplification; resistance; mutant allele ... See more keywords
High NPM1-mutant allele burden at diagnosis predicts unfavorable outcomes in de novo AML.
Sign Up to like & getrecommendations! Published in 2018 at "Blood"
DOI: 10.1182/blood-2018-01-828467
Abstract: Acute myeloid leukemia (AML) with mutated NPM1 is a newly recognized separate entity in the revised 2016 World Health Organization classification and is associated with a favorable prognosis. Although previous studies have evaluated NPM1 in… read more here.
Keywords: high npm1; novo aml; mutant allele; allele burden ... See more keywords
CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23084410
Abstract: Collagen VI-related disorders are the second most common congenital muscular dystrophies for which no treatments are presently available. They are mostly caused by dominant-negative pathogenic variants in the genes encoding α chains of collagen VI,… read more here.
Keywords: crispr cas9; pathogenic variant; allele specific; collagen ... See more keywords