Cancer Classification Through p53 Hotspot Mutations: An Ensemble Learning Approach
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DOI: 10.1002/cbin.70041
Abstract: Tumor suppressor protein p53 is attracting a lot of attention in cancer research because of its role in both tumor cell survival and apoptosis. The most frequently altered tumor suppressor gene in human cancer is… read more here.
Keywords: classification; cancer; p53; hotspot ... See more keywords
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
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type
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DOI: 10.1038/s41467-024-51713-y
Abstract: Invasive cervical cancers (ICC), caused by HPV infections, have a heterogeneous molecular landscape. We investigate the detection, timing, and HPV type specificity of somatic mutations in 3929 HPV-positive exfoliated cervical cell samples from individuals undergoing… read more here.
Keywords: hpv; somatic mutations; hpv positive; hpv type ... 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
Abstract 4341: Non canonical mitochondrial hotspot mutations in cancer
Sign Up to like & getrecommendations! Published in 2024 at "Cancer Research"
DOI: 10.1158/1538-7445.am2024-4341
Abstract: The vast majority of recurrent somatic mutations arising in tumors affect protein-coding genes in the nuclear genome. Here, through population-scale analysis of 15,619 whole tumor genomes, we report the discovery of highly recurrent mutations affecting… read more here.
Keywords: cancer; hotspot; canonical mitochondrial; non canonical ... See more keywords
Abstract 1157: Investigating the clinical landscape and biological impact of SF3B1 hotspot mutations in breast cancer
Sign Up to like & getrecommendations! Published in 2025 at "Cancer Research"
DOI: 10.1158/1538-7445.am2025-1157
Abstract: Hotspot mutations in SF3B1 result in a neomorphic protein that causes aberrant splicing of hundreds of transcripts, impacting many cancer-associated pathways. The widespread changes make SF3B1 an attractive clinical marker and potential therapeutic target, but… read more here.
Keywords: breast cancer; cancer; sf3b1 hotspot; hotspot mutations ... See more keywords