Passenger Hotspot Mutations in Cancer.
Sign Up to like & getrecommendations! Published in 2019 at "Cancer cell"
DOI: 10.1016/j.ccell.2019.08.002
Abstract: Current statistical models for assessing hotspot significance do not properly account for variation in site-specific mutability, thereby yielding many false-positives. We thus (i) detail a Log-normal-Poisson (LNP) background model that accounts for this variability in… read more here.
Keywords: hotspot mutations; passenger hotspot; mutations cancer; cancer ... See more keywords
Why are there hotspot mutations in the TP53 gene in human cancers?
Sign Up to like & getrecommendations! Published in 2018 at "Cell Death and Differentiation"
DOI: 10.1038/cdd.2017.180
Abstract: The p53 gene contains homozygous mutations in ~50–60% of human cancers. About 90% of these mutations encode missense mutant proteins that span ~190 different codons localized in the DNA-binding domain of the gene and protein.… read more here.
Keywords: human cancers; dna; hotspot mutations; gene ... See more keywords
Recurrent hotspot mutations in HRAS Q61 and PI3K-AKT pathway genes as drivers of breast adenomyoepitheliomas
Sign Up to like & getrecommendations! Published in 2018 at "Nature Communications"
DOI: 10.1038/s41467-018-04128-5
Abstract: Adenomyoepithelioma of the breast is a rare tumor characterized by epithelial−myoepithelial differentiation, whose genetic underpinning is largely unknown. Here we show through whole-exome and targeted massively parallel sequencing analysis that whilst estrogen receptor (ER)-positive adenomyoepitheliomas… read more here.
Keywords: mutations hras; hotspot mutations; pathway genes; hras q61 ... See more keywords
TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer
Sign Up to like & getrecommendations! Published in 2021 at "NPJ Breast Cancer"
DOI: 10.1038/s41523-021-00250-8
Abstract: Metaplastic breast cancers (MBCs) are characterized by complex genomes, which seem to vary according to their histologic subtype. TERT promoter hotspot mutations and gene amplification are rare in common forms of breast cancer, but present… read more here.
Keywords: hotspot mutations; tert promoter; promoter; promoter hotspot ... See more keywords
Absence of KRAS hotspot mutations in endometriosis of Korean patients
Sign Up to like & getrecommendations! Published in 2018 at "Histopathology"
DOI: 10.1111/his.13524
Abstract: Endometriosis is a condition in which endometrial epithelial and stromal tissue is present outside of the uterus. It involves ovaries, fallopian tubes, tissue lining the pelvis and even beyond pelvic organs. While the exact cause of endometriosis remains unknown,… read more here.
Keywords: endometriosis; kras hotspot; absence kras; hotspot mutations ... See more keywords
Abstract 4654: Hotspot mutations in the core spliceosomal protein SF3B1 promote breast tumorigenesis
Sign Up to like & getrecommendations! Published in 2019 at "Tumor Biology"
DOI: 10.1158/1538-7445.am2019-4654
Abstract: The core RNA splicing factor SF3B1 is targeted by recurrent hotspot mutations in leukemias and solid tumors with the K700E substitution observed in 2% of unselected breast cancer patients. These mutations promote usage of aberrant… read more here.
Keywords: hotspot mutations; cancer; k700e; breast cancer ... See more keywords
Abstract 4754: Investigating the impact of hotspot mutations in a chromatin reader on leukemogenesis
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-4754
Abstract: Acute myeloid leukemia (AML) is one of the most aggressive forms of hematological malignancies with a low overall 5-year survival rate (< 26%). The mainstay of treatment for AML includes chemotherapy, but the response of… read more here.
Keywords: chromatin reader; hotspot mutations; investigating impact; mutations chromatin ... See more keywords
Hotspot mutations and ColE1 plasmids contribute to the fitness of Salmonella Heidelberg in poultry litter
Sign Up to like & getrecommendations! Published in 2018 at "PLoS ONE"
DOI: 10.1371/journal.pone.0202286
Abstract: Salmonella enterica subsp. enterica serovar Heidelberg (S. Heidelberg) is a clinically-important serovar linked to food-borne illness, and commonly isolated from poultry. Investigations of a large, multistate outbreak in the USA in 2013 identified poultry litter… read more here.
Keywords: salmonella; poultry litter; hotspot mutations; cole1 plasmids ... See more keywords
Phylogenetic analysis of 17271 Indian SARS-CoV-2 genomes to identify temporal and spatial hotspot mutations
Sign Up to like & getrecommendations! Published in 2022 at "PLoS ONE"
DOI: 10.1371/journal.pone.0265579
Abstract: The second wave of SARS-CoV-2 has hit India hard and though the vaccination drive has started, moderate number of COVID affected patients is still present in the country, thereby leading to the analysis of the… read more here.
Keywords: hotspot mutations; analysis; 17271 indian; temporal spatial ... See more keywords
Hotspot Mutations Detectable by Next-generation Sequencing in Exhaled Breath Condensates from Patients with Lung Cancer
Sign Up to like & getrecommendations! Published in 2018 at "AntiCancer Research"
DOI: 10.21873/anticanres.12897
Abstract: Background: Genetic alterations occurring in lung cancer are the basis for defining molecular subtypes and essential for targeted therapies. Exhaled breath condensate (EBC) is a form of non-invasive sample that, amongst components, contains DNA from… read more here.
Keywords: patients lung; kinase; hotspot mutations; lung cancer ... See more keywords
Analysis of Fifty Hotspot Mutations of Lung Squamous Cell Carcinoma in Never-smokers
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Korean Medical Science"
DOI: 10.3346/jkms.2017.32.3.415
Abstract: Smoking is the major risk factor for lung squamous cell carcinoma (SCC), although a small number of lung SCCs occurs in never-smokers. The purpose of this study was to compare 50 hotspot mutations of lung… read more here.
Keywords: never smokers; squamous cell; hotspot mutations; mutations lung ... See more keywords