Mutations in tp53. Medical search. Frequent questions

The findings do not indicate that every man undergo genetic testing for TP53 , Pritchard added, but those who are being tested for cancer-risk genes, perhaps because of a family history of cancer, should be tested for these TP53 variants as part of the screening. (eurekalert.org)
Therefore, several of these internal ids could be associated with a single genomic COSV id where the mutation has been mapped to all overlapping genes and transcripts. (sanger.ac.uk)
Twenty-eight ATC harbored a mutation in at least one of the studied genes: TP53 (18/30), NF1 (11/30), ALK (6/30), NRAS (4/30), ATRX (3/30), BRAF (2/30), HRAS (2/30), KRAS (1/30). (uni-koeln.de)
In 17/30 ATC (54 %) mutations were found in two or more genes. (uni-koeln.de)
These sequencing data from 30 ATC samples demonstrate the accumulation of genetic alterations in ATC because in 90 % of samples mutations were already found in the investigated nine genes alone. (uni-koeln.de)
Mutations were found with high prevalence in established tumor suppressor and oncogenes in ATC, such as TP53 and H/K/NRAS, but also, although less frequent, in genes that may harbor the potential for targeted treatment in a subset of ATC patients, such as ALK and NF1. (uni-koeln.de)
Simple Summary: Most solid tumors share mutations in TP53 that is thus considered one of the main cancer driver genes. (ugr.es)
In the tabs below you can see any other genes that have resistance mutations to the same drug(s), and the distribution of mutations that occur in those genes. (sanger.ac.uk)
Alternative transcripts are also displayed here for genes where reported resistant mutations are not located on the canonical transcript but are on the alternative, and also where reported resistant mutations are located at the same genomic position on both the canonical and alternative transcripts or on overlapping genes and/or fusions and share a COSM id. (sanger.ac.uk)
We aimed to identify genes driven by the TP53 mutationstatus and assess their clinical relevance in estrogen receptor (ER)-positive and ER-negativeBC, and their potential as targets for patients with TP53 mutated tumors. (mtak.hu)
A growing understanding of cancer molecular complexity and the role of oncogenic drivers such as mutations in genes encoding the epidermal growth factor receptor ( EGFR ), V-Ki-Ras2 Kirsten Rat Sarcoma 2 ( KRAS ), (MET) and Anaplastic Lymphoma Kinase (ALK) genes have ushered in the era of targeted therapies. (nature.com)
Transcriptional effects on TP53-target genes and cell proliferation in response to knocking down or overexpressing ESR2 were determined. (nih.gov)
Otros autores sugieren que ese es el resultado de mutaciones en oncogenes, genes supresores y enzimas de la vía glucolítica o del metabolismo oxidativo mitocondrial (Myc, Akt, p53, HIF1-α). (researchgate.net)
As an example, Dr. Sallman has focused research and clinical trial efforts on patients who have TP53 mutation (often associated with complex genes/cytogenetics) given their high risk of transformation to acute leukemia and poor survival. (moffitt.org)
Mutations in established ATC-related genes were observed, including TP53, BRAF, ARID1A, and RB1, and overrepresentation of mutations were also noted in 13 additional cancer genes. (lu.se)
To this end, we screen clinical tumor material for disease-causing mutations using deep sequencing technology and we manipulate genes of interest in cancer model systems to understand the true consequences of mutations. (lu.se)
Published 24 March 2017 Deletion of ribosomal protein genes is a common vulnerability in human cancer, especially in concert with TP53 mutations. (lu.se)
5% of GBMs and include disorders such as Li-Fraumeni syndrome (TP53 mutation), Turcot syndrome (biallelic mutation of mismatch repair genes), and neurofibromatosis type 1 (NF1 mutation). (medscape.com)
30% of GBM risk and include polymorphisms in the genes TP53, TERT, EGFR, CDKN2B-AS1, and RTEL1. (medscape.com)

This review describes the prevalence of germline TP53 mutations, the risk of breast cancer and other cancers in mutation carriers and management implications for women with breast cancer and unaffected women. (cam.ac.uk)
Women who carry germline mutations in the TP53 gene have a very high risk of breast cancer of up to 85% by age 60 years. (cam.ac.uk)
Approximately 5-8% of women presenting with breast cancer under 30 years old have a germline TP53 gene mutation. (cam.ac.uk)
We analyzed differences in relation to BRCA1 germline status, TP53 status, survival and age at diagnosis, as previous studies have not been conclusive. (uit.no)
The syndrome is linked to germline mutations of the p53 tumor suppressor gene, which encodes a transcription factor (p53) that normally regulates the cell cycle and prevents genomic mutations. (wikipedia.org)
Nearly three-quarters of families with Li-Fraumeni syndrome and about one-quarter with Li-Fraumeni-like syndrome have germline mutations in the TP53 gene. (medlineplus.gov)
Germline mutations are typically inherited and are present in essentially every cell in the body. (medlineplus.gov)
SDS is predominantly caused by biallelic germline mutations in the SBDS gene 5 . (nature.com)
Between 2005 and 2016, 370 women diagnosed with breast cancer younger than 30 years of age were tested for TP53 germline mutations, and eight (2.2%) were found to carry a (likely) pathogenic TP53 sequence variant. (amsterdamumc.org)

To study the possible role of TP53 in astrocytoma development, 24 randomly chosen human astrocytic tumors were examined for genomic TP53 sequence aberrations using primer-directed DNA amplification in conjunction with direct sequencing. (nih.gov)
These data suggest that TP53 mutations may play a role in astrocytoma development and are predominantly associated with higher grade tumors. (nih.gov)
Here, we review the main studies analyzing TP53 mutations in either CTCs or cfDNA in the three more prevalent solid tumors: breast, colon and lung cancers. (ugr.es)
Our results collectively demonstrate that TP53-correlated ki-nase MPS1, is a potential therapeutic target in BC patients with TP53 mutated tumors, andthat SP600125 warrant further development in future clinical trials. (mtak.hu)
If these DNA mutations are left unchecked, some cells can divide uncontrollably, forming tumors (cancers). (wikipedia.org)
The mutation burden was similar in diploid and aneuploid tumors , however, TP53 mutations were not observed in diploid tumors , but in all aneuploid tumors in our collective. (bvsalud.org)
In summary, our data show that ATRX alterations are frequent in adult diffuse gliomas and are specific to astrocytic tumors carrying IDH1/2 and TP53 mutations. (mcmaster.ca)
Mutations in this gene can allow cells to divide in an uncontrolled way and form tumors. (medlineplus.gov)
Cells with two altered copies of this gene do not make functional TP53 protein, which allows tumors to develop. (medlineplus.gov)
The second mutation often occurs in cells within the breast, bone, or muscle tissue, typically leading to the tumors common in Li-Fraumeni syndrome. (medlineplus.gov)
Thus, somatic mutations, and the consequent genomic instability may be an important driving force for the development of chemoresistance in malignant tumors. (biomedcentral.com)
The purpose of this study was to assess the TP53 mutational profile in a relatively large series of high-grade (53 primary and 18 recurrent) and 13 low-grade ovarian serous tumors using DNA isolated from affinity-purified tumor cells and to correlate it with in vitro drug resistance. (johnshopkins.edu)
TP53 mutations were detected in 57 (80.3%) of 71 high-grade carcinomas and in one (7.8%) of 13 low-grade serous tumors (an invasive low-grade serous carcinoma). (johnshopkins.edu)
Data-driven unbiased curation of the TP53 tumor suppressor gene mutation database and validation by ultradeep sequencing of human tumors. (scilifelab.se)
In summary, 9.7% of all collected studies, mostly comprising numerous tumors with multiple infrequent TP53 mutations, should be excluded when analyzing TP53 mutations. (scilifelab.se)
The mutation increases the overall risk for affected children to develop cancer or a number of benign tumors, especially at younger ages. (choa.org)

But mutations in TP53 commonly develop in cancers, and when its protection is lost the cancers can go wild," said Dr. Colin Pritchard, professor of laboratory medicine and pathology at the University of Washington School of Medicine. (eurekalert.org)
This region contains a candidate tumor suppressor gene, TP53, which has recently been implicated in the etiology of a broad array of human cancers. (nih.gov)
Breast cancers in women with TP53 mutations are more likely to be hormone receptor positive and/or Her2 positive. (cam.ac.uk)
Mutation carriers are at high risk of various childhood and adult-onset cancers with a very lifetime risk of malignancy, the commonest malignancies being breast cancer and soft tissue sarcoma. (cam.ac.uk)
From this first comprehensive mapping of TP53 mutation rate in a homogeneous group of HGPSC patients, we conclude that mutant TP53 is a driver mutation in the pathogenesis of HGPSC cancers. (ox.ac.uk)
Recent studies demonstrate that somatic mutations in the tumor tissues influence immunotherapeutic response in several cancers [ 6 , 7 ]. (aging-us.com)
TP53 is the most frequently mutated gene in more than 50% of all human cancers [ 9 ]. (aging-us.com)
Breast cancers (BC) carry a complex set of gene mutations that can inﬂuence their geneexpression and clinical behavior. (mtak.hu)
A few families with cancers characteristic of Li-Fraumeni syndrome and Li-Fraumeni-like syndrome do not have TP53 mutations. (medlineplus.gov)
Taking into consideration that TP53 mutation prevalence was comparable or even higher in some studies selecting patients with breast cancer onset at older ages or HER2-positive breast cancers, raises the question of whether a very early age of onset is an appropriate single TP53 genetic testing criterion. (amsterdamumc.org)
Most high-grade cancers harbor mutations in the TP53 gene together with a massive amount of other mutations and chromosome aberrations. (lu.se)

A preliminarily study of carcinogenesis and chemosensitivity suggests that this cell model carries a tumor suppressor gene mutation and is sensitive to chemotherapy drugs. (oncotarget.com)
The survival outcomes of CCA patients were associated with the TP53 gene mutation status, levels of Oncostatin M (OSM) expression, and the proportions of tumor-infiltrating immune cell types, including dendritic cells, monocytes, and T follicular helper cells. (aging-us.com)
In lung cancer patients, TP53 gene mutation status is associated with prognosis and therapeutic outcomes [ 10 ]. (aging-us.com)
BACKGROUND: Loss of TP53 function through gene mutation is a critical event in the development and progression of many tumour types including colorectal cancer (CRC). (ox.ac.uk)
Almost everyone who inherits one TP53 gene mutation will eventually acquire a mutation in the second copy of the gene in some cells. (medlineplus.gov)

Genomic mutation identifier (COSV) to indicate the definitive position of the variant on the genome. (sanger.ac.uk)
Multi-tiered genomic analysis of head and neck cancer ties TP53 mutation to 3p loss. (uchicago.edu)
Genomic instability caused by mutation of the checkpoint molecule TP53 may endow cancer cells with the ability to undergo genomic evolution to survive stress and treatment. (biomedcentral.com)
We attempted to gain insight into the potential contribution of ovarian cancer genomic instability resulted from TP53 mutation to the aberrant expression of multidrug resistance gene MDR1 . (biomedcentral.com)
TP53 mutation-associated genomic instability may promote chromosome 7 accumulation and MDR1 amplification during ovarian cancer chemoresistance and recurrence. (biomedcentral.com)
TP53 is a checkpoint molecule that maintains genomic stability, prevents cell mitosis and induces apoptosis following abnormal chromosome segregation or chemical damage to DNA sequences [ 9 , 10 ]. (biomedcentral.com)
Inactivation of RB1, CDKN2A, and TP53 have distinct effects on genomic stability at side-by-side comparison in karyotypically normal cells. (lu.se)

To find out the role of TP53 variants, the researchers looked at the incidence of prostate cancer in a group of men with LFS and the prevalence of inherited TP53 mutations in men with prostate cancer. (eurekalert.org)
To identify the true prevalence of TP53 mutations in HGPSC, we sequenced exons 2-11 and intron-exon boundaries in tumour DNA from 145 patients. (ox.ac.uk)
However, large studies investigating TP53 mutation prevalence in this population are scarce. (amsterdamumc.org)
Prevalence and prognosis implication of MYD88 L265P mutation in IgM monoclonal gammopathy of undetermined significance and smouldering Waldenström macroglobulinaemia. (cdc.gov)

Five of the 11 grade III astrocytomas (glioblastoma multiforme), but only one of seven grade II astrocytomas (anaplastic astrocytoma) and none of either the grade I astrocytomas or oligodendrogliomas demonstrated distinct point mutations involving the TP53 gene. (nih.gov)
The majority of osteosarcomas harbour mutations in the TP53 gene, either point mutations or structural variations that separate the promoter region from the coding parts of TP53. (lu.se)

Where FATHMM-MKL scores are ≥ 0.7 the mutation is classified as 'pathogenic', or 'neutral' if the score is ≤ 0.5. (sanger.ac.uk)
Surprisingly, pathogenic TP53 mutations were identified in 96.7% (n = 119/123) of HGPSC cases. (ox.ac.uk)
The presence of a pathogenic somatic TP53 mutation (at a variant allele fraction of at least 10%, with or without loss of the wild-type TP53 allele) defines the entity AML with mutated TP53 . (cancercentrum.se)

Munin: TP53 mutations in ovarian carcinomas from sporadic cases and carriers of two distinct BRCA1 founder mutations. (uit.no)
Background: Ovarian carcinomas from 30 BRCA1 germ-line carriers of two distinct high penetrant founder mutations, 20 carrying the 1675delA and 10 the 1135insA, and 100 sporadic cases were characterized for somatic mutations in the TP53 gene. (uit.no)
The TP53 mutation frequency in ovarian serous carcinomas has been reported to range between 50% and 80%, but a stringent analysis of TP53 using purified epithelial samples has not yet been performed to accurately assess the mutation frequency and to correlate it with the histologic grade. (johnshopkins.edu)
The frequency of TP53 mutations using purified tumor DNA from ovarian serous carcinomas was 80.3%, which is much higher than previously reported. (johnshopkins.edu)
Furthermore, we found that TP53 is not directly involved in the development of drug resistance in high-grade ovarian serous carcinomas. (johnshopkins.edu)
Low-MD carcinomas had a significantly increased frequency of TP53 mutations, higher homologous recombination deficiency, higher fraction of the genome altered, and more copy number gains on chromosome 1q and losses on 17p. (blogspot.com)

Because TP53 mutation is almost invariably present in HGPSC, it is not of substantial prognostic or predictive significance. (ox.ac.uk)
The mitotic checkpoint gene MPS1 was themost signiﬁcant gene correlated with TP53 status, and the most signiﬁcant prognostic markerin all ER-positive BC datasets. (mtak.hu)
or=20% of wildtype transactivation ability) had different prognostic and predictive values in CRC compared with mutations that retained significant activity. (ox.ac.uk)
Higher frequencies of inactive TP53 mutations were also seen in advanced stage tumours (P = 0.0003) and in tumours with the poor prognostic features of vascular (P = 0.006) and lymphatic invasion (P = 0.002). (ox.ac.uk)
The goal of this study was to identify distinct biological and prognostic subgroups based on mutations of ASXL1, RUNX1, DNMT3A, NPM1, FLT3 and TP53 in 125 AML-MRC patients according to the presence of MLD, cytogenetics and outcome. (crcm-marseille.fr)
Because TP53 mutations are associated with poor prognosis in hematologic malignancies, we investigated the prognostic value of TP53 mutation at diagnosis in FL. (elsevierpure.com)
Mutation was associated with older age (P=.02) and higher International Prognostic Index score (P=.04). (elsevierpure.com)
Prognostic value of KRAS mutations, TP53 mutations and PD-L1 expression among lung adenocarcinomas treated with immunotherapy. (aau.dk)
TP53 Mutation and Its Prognostic Significance in Waldenstrom's Macroglobulinemia. (cdc.gov)

TP53 is a tumor suppressor gene that, by detecting DNA damage, serves as the 'Guardian of the Genome. (eurekalert.org)
Considered the "guardian of the genome," TP53 is the most commonly mutated gene in cancer. (news-medical.net)

Numerous studies have tested the association between TP53 mutations in ovarian cancer and prognosis but these have been consistently confounded by limitations in study design, methodology, and/or heterogeneity in the sample cohort. (ox.ac.uk)
Aneuploidy, TP53 mutation, and amplification of MYC correlate with increased intratumor heterogeneity and poor prognosis of breast cancer patients. (bvsalud.org)
CONCLUSIONS: Mutations that inactivate the transactivational ability of TP53 are more frequent in advanced CRC and are associated with worse prognosis in this stage of disease. (ox.ac.uk)
Role of ASXL1 and TP53 mutations in the molecular classification and prognosis of acute myeloid leukemias with myelodysplasia-related changes. (crcm-marseille.fr)
We conclude that ASXL1 and TP53 mutations identify two molecular subgroups among AML-MRCs, with specific poor prognosis. (crcm-marseille.fr)

Subsequent development of leukemia was associated with acquisition of biallelic TP53 alterations. (nature.com)
AML with in-frame mutation in the bZIP domain of the CEBPA gene, either monoallelic or biallelic. (cancercentrum.se)

Driver mutations in TP53 are ubiquitous in high grade serous carcinoma of the ovary. (ox.ac.uk)

Because CLL cells divide very slowly, looking at the chromosomes is often less useful than using tests to find specific genetic mutations or changes. (cancer.net)
According to Darwinian evolutionary theory, evolutionary process can be attributed to the presence of genetic mutations between parental and offspring generations [ 7 ]. (biomedcentral.com)
Several genetic mutations have been proposed but specific modes of inheritance are still unknown. (karger.com)

We conclude that quantitative measurements of intratumor heterogeneity by multiplex FISH, detection of MYC amplification and TP53 mutation could augment prognostication in breast cancer patients . (bvsalud.org)

The TP53 gene instructs cells to make tumor protein 53. (eurekalert.org)
Under this is shown the amino acid sequence and the Pfam protein structures, followed by complex mutations and insertions and deletions. (sanger.ac.uk)
This variant, c.448_459del, results in the deletion of 4 amino acid(s) of the TP53 protein (p.Thr150_Pro153del), but otherwise preserves the integrity of the reading frame. (nih.gov)

All samples were affinity purified, and the tumor DNA was analyzed for TP53 mutations in exons 4-9. (johnshopkins.edu)

Functional categories of TP53 mutation in colorectal cancer: results of an International Collaborative Study. (ox.ac.uk)

Recent studies have shown that 60% to 80% of classic LFS families harbor detectable germ-line TP53 mutations, the majority of which are missense mutations in the DNA-binding domain. (wikipedia.org)
These missense mutations cause a decrease in the ability of p53 to bind to DNA, thus inhibiting the normal TP53 mechanism. (wikipedia.org)

It describes the source of the mutation i.e gene name/sample name/tissue name with unique ID, and also shows the mutation syntax at the amino acid and nucleotide sequence level. (sanger.ac.uk)
These mutations are displayed at the amino acid level across the full length of the gene by default. (sanger.ac.uk)
The mutation causes an amino acid change from arginine to histidine at codon 337. (wikipedia.org)

The connection between TP53 variants and prostate cancer in LFS patients may have gone undetected because, for many years, these patients typically did not live long enough to develop the disease, according to Pritchard. (eurekalert.org)
TP53 expression is also a potential diagnostic biomarker in CCA patients [ 13 ]. (aging-us.com)
We applied an Evolutionary Action Score to functionally characterize TP53 mutations (EAp53) in 96 TNBC patients and observed that EAp53 stratification may identify TP53 mutations associated with worse outcomes. (elsevierpure.com)
Patients with Dukes' C stage tumours appeared to gain a survival benefit from 5-fluorouracil-based chemotherapy regardless of TP53 functional status for transactivation ability. (ox.ac.uk)
To define the mechanistic basis of clonal hematopoiesis in SDS, we investigate somatic mutations acquired by patients with SDS followed longitudinally. (nature.com)
Somatic TP53 mutations have been observed in patients with SDS who develop MDS 13 , raising the possibility that next-generation sequencing could be integrated into surveillance for somatic clones with enhanced leukemia potential. (nature.com)
However, TP53 mutations have also been identified in SDS patients without MN 14 , suggesting that additional factors must be uncovered before implementing molecular surveillance as a predictive tool in SDS. (nature.com)
To understand the molecular pathogenesis of MN in patients with SDS, we characterized the presence and dynamics of somatic mutations in serial, clinically annotated samples collected prospectively from patients enrolled in the North American SDS Registry and studied the functional consequences of recurrently mutated pathways. (nature.com)
We collected nationwide laboratory records for all young breast cancer patients tested for TP53 mutations in the Netherlands. (amsterdamumc.org)
Moreover, in 161 epithelial ovarian cancer patients, multivariate logistic analysis identified late FIGO (International Federation of Gynecology and Obstetrics) stage, serous histotype, G3 grade and TP53 mutation as independent risk factors for ovarian cancer recurrence. (biomedcentral.com)
Patients with 17p deletion or TP53 mutations were excluded. (medpagetoday.com)
Detection of MYD88 L265P and WHIM-like CXCR4 mutation in patients with IgM monoclonal gammopathy related disease. (cdc.gov)
Pattern of somatic mutations in patients with Waldenström macroglobulinemia or IgM monoclonal gammopathy of undetermined significance. (cdc.gov)
The clinical features of patients with lymphoplasmacytic diseases harboring MyD88 L265P mutation]. (cdc.gov)

Here, we review the main studies conducted on two types of liquid biopsies: circulating tumor cells and cell-free DNA.We discuss the main findings regarding TP53 mutation analysis, the clinical utility of this information and some controversies arising from the study of liquid biopsies compared to tissue samples, and we finish by suggesting future directions within this field. (ugr.es)
We evaluate the correlation for mutation status between liquid biopsies and tumor tissue, suggesting possible sources of discrepancies, as well as evaluating the clinical utility of using liquid biopsies for the analysis of TP53 mutation status and the future actions that need to be undertaken to make liquid biopsy analysis a reality for the evaluation of TP53 mutations. (ugr.es)
note = "Funding Information: The data collection and analysis of this work was supported by an American Society for Clinical Oncology (ASCO) Conquer Cancer Foundation Young Investigator Award to Z.I.M. Thank you to Dr. Fraser Symmans for TP53 sequencing and pathological outcomes review of biospecimens, and Dr. Olivier Lichtarge for providing EAS analysis. (elsevierpure.com)
We determined the accuracy of MAPs plasma sequencing with respect to droplet digital polymerase chain reaction assays (ddPCR), and tested whether actionable mutation discovery is improved by next-generation sequencing (NGS) in a clinical setting. (nature.com)

In multivariate analysis, the presence of either ASXL1 or TP53 mutation was the only independent factor associated with shorter OS (HR, 95%CI: 2.53, 1.40-4.60, p=0.002) while MLD, MDS-related cytogenetics and previous MDS history did not influence OS. (crcm-marseille.fr)

Men who have mutations in a gene called TP53 have a high risk of developing aggressive prostate cancer, a multicenter research team in the United States has found. (eurekalert.org)
Harmful mutations in TP53 also can be inherited and cause a rare condition called Li-Fraumeni syndrome, named after Drs. Frederick Li and Joseph Fraumeni from the U.S. National Cancer Institute, who first described it in 1969. (eurekalert.org)
Although the syndrome is associated with many different types of cancer, including some in breast, bone and soft tissues, such as muscles, the effect of TP53 variants on the risk of prostate cancer was unknown. (eurekalert.org)
Among the nearly 7,000 men they studied who had had prostate cancer, 38 had inherited a deleterious TP53 variant. (eurekalert.org)
Twenty-one of the identified variants are listed in COSMIC as somatic mutations reported in other cancer entities. (uni-koeln.de)
Mutations in TP53 occur very early during tumor development, so their identification helps in diagnosing cancer. (ugr.es)
Mouse insertional mutagenesis experiments DO NOT support the designation of TP53_ENST00000359597 as a cancer causing gene. (sanger.ac.uk)
Mastectomy is recommended over lumpectomy in TP53 mutation carriers who have breast cancer so that adjuvant breast radiotherapy can be avoided. (cam.ac.uk)
Further mutations in the DNA could lead to malignant cells that can travel to, and develop cancer in, different areas of the body. (wikipedia.org)
We investigated the potential of TP53 status to be a determinant of the bi-faceted role of ESR2 and associated therapeutic implications for triple negative breast cancer (TNBC). (nih.gov)
Patient survival according to ESR2 expression levels and TP53 mutation status was analyzed in the basal-like TNBC subgroup in the Molecular Taxonomy of Breast Cancer International Consortium (n = 308) and Roswell Park Comprehensive Cancer Center (n = 46) patient cohorts by univariate Cox regression and log-rank test. (nih.gov)
Other genetic and environmental factors are also likely to affect the risk of cancer in people with TP53 mutations. (medlineplus.gov)
For a cancer to develop in Li-Fraumeni syndrome, a mutation involving the other copy of the TP53 gene must occur in the body's cells during a person's lifetime. (medlineplus.gov)
Current national and international guidelines recommend that TP53 genetic testing should be considered for women with breast cancer diagnosed before the age of 31 years. (amsterdamumc.org)
In addition to performing nucleotide sequencing for 5 cases of ovarian cancer, TP53 mutations were analyzed via immunohistochemical staining for P53. (biomedcentral.com)
Tumor DNA was collected where available ( n = 56) and sequenced for breast cancer predisposition and driver gene mutations, including copy number alterations. (blogspot.com)
Cancer mutation databases are expected to play central roles in personalized medicine by providing targets for drug development and biomarkers to tailor treatments to each patient. (scilifelab.se)
Sequencing the entire TP53 gene from various types of cancer using next-generation sequencing with ultradeep coverage validated our approach for curation. (scilifelab.se)
A pediatric cancer predisposition syndrome happens when a child is born with a genetic mutation that changes how a specific gene works. (choa.org)
To enhance our understanding of the role of TP53 in cancer we focus on the TP53 promoter region - does it represent the gas or the brake pedal? (lu.se)

Many individuals with Li-Fraumeni syndrome have been shown to be heterozygous for a TP53 mutation. (wikipedia.org)
Unique Brazilian mutation: Although other mutations leading to Li-Fraumeni syndrome have been found outside the DNA-binding domain, a mutation at codon 337 of the tetramerization domain of TP53 has shown a particularly high frequency. (wikipedia.org)
citation needed] Dominant negative mutations: Most individuals with Li-Fraumeni syndrome are heterozygous for a mutant TP53 gene, and some p53 mutants can inhibit the function of the wild-type p53 in a dominant negative manner. (wikipedia.org)
We recently identified frequent alterations in chromatin remodelling pathways including recurrent mutations in H3F3A and mutations in ATRX (α-thalassemia/mental-retardation-syndrome-X-linked) in pediatric and young adult glioblastoma (GBM, WHO grade IV astrocytoma). (mcmaster.ca)
Li-Fraumeni syndrome is associated with mutations in the TP53 gene. (medlineplus.gov)

LFS2: mutations in CHEK2 Another variant of Li-Fraumeni that remains somewhat controversial, is a mutation of the CHEK2 (or CHK2) gene. (wikipedia.org)
This variant has not been reported in the literature in individuals affected with TP53-related conditions. (nih.gov)

The mutation impact filters are derived from the FATHMM-MKL algorithm ( Functional Analysis through Hidden Markov Models ). (sanger.ac.uk)
TP53 status is a determinant of the functional duality of ESR2. (nih.gov)
MATERIALS AND METHODS: TP53 mutations within a large, international database of CRC (n = 3583) were classified according to functional status for transactivation. (ox.ac.uk)

citation needed] Mutant conditions: Mutations of TP53 can inhibit its normal function, and allow cells with damaged DNA to continue to divide. (wikipedia.org)
ESR2 interaction with wild-type and mutant TP53 caused pro-proliferative and anti-proliferative effects, respectively. (nih.gov)
Tamoxifen increased ESR2-mutant TP53 interaction, leading to reactivation of TP73 and apoptosis. (nih.gov)
Our study suggests that ESR2-mutant TP53 combination prognosticates survival in TNBC revealing a novel strategy to stratify TNBC for therapeutic intervention potentially by repurposing tamoxifen. (nih.gov)
ASXL1 mutations (n=26, 21%) were associated with a higher proportion of marrow dysgranulopoiesis (mutant vs. wild-type: 75% vs. 55%, p=0.030) and were mostly found in intermediate cytogenetic AML (23/26) in which they predicted inferior 2-year overall survival (OS, mutant vs. wild-type: 14% vs. 37%, p=0.030). (crcm-marseille.fr)
TP53 mutations (n=28, 22%) were mostly found in complex karyotype AML (26/28) and predicted poor outcome within unfavorable cytogenetic risk AML (mutant vs. wild-type: 9% vs. 40%, p=0.040). (crcm-marseille.fr)

To view all methylation probes within or in close proximity to TP53_ENST00000359597 please use the COSMIC Genome Browser . (sanger.ac.uk)

Five out of eight cases (63%) displayed cyclin-dependent kinase inhibitor 2A (CDKN2A) abnormalities, either copy number loss (n = 4) or truncating mutations (n = 1). (lu.se)

LFS1: Mutations in TP53 Normal conditions:[citation needed] TP53 is a tumor suppressor gene on chromosome 17 that normally assists in the control of cell division and growth through action on the normal cell cycle. (wikipedia.org)

Using sequencing and/or immunohistochemical analyses, we investigated ATRX alterations (mutation/loss of expression) and their association with TP53 and IDH1 or IDH2 mutations in 140 adult WHO grade II, III and IV gliomas, 17 pediatric WHO grade II and III astrocytomas and 34 pilocytic astrocytomas. (mcmaster.ca)
ATRX alterations closely overlapped with mutations in IDH1/2 (p (mcmaster.ca)

Consistent with the geneexpression proﬁling and siRNA assays, the inhibition of MPS1 by SP600125 led to a reductionin cell viability and a signiﬁcant increase in cell death, selectively in TP53-mutated BC cells.Furthermore, the chemical inhibition of MPS1 sensitized BC cells to conventional chemo-therapy, particularly taxanes. (mtak.hu)
ESR2-TP53 interaction was analyzed with multiple assays including the in situ proximity ligation assay. (nih.gov)
In vitro drug resistance assays to carboplatin, cisplatin, paclitaxel, and taxotere were performed on the same tumor samples and correlated with the TP53 mutation status. (johnshopkins.edu)

No association between TP53 mutation and progression-free or overall survival was found. (ox.ac.uk)
Liu Q , Lan T , Song Y , Cai J , Yu X , Chen W , . Oncostatin M expression and TP53 mutation status regulate tumor-infiltration of immune cells and survival outcomes in cholangiocarcinoma. (aging-us.com)
Our study demonstrates that OSM expression and TP53 mutation status regulate the tumor infiltration by immune cells and survival outcomes in CCA. (aging-us.com)

In fact, the use of cfDNA for sensitizing and resistance somatic mutation detection in oncodrivers for NSCLC was integrated into the European Medicines Agency (EMA) approval. (nature.com)

Identification of mutations contributing to aberrant activation of signaling cascades in ATC may provide novel opportunities for targeted therapy. (uni-koeln.de)

In three ATC samples no mutations were detected and none of the ATCs was positive for BRAF(V600E). (uni-koeln.de)
ALK mutations were detected in 20 % of ATC and were more frequent than RAS or BRAF mutations. (uni-koeln.de)

Here we report that multiple independent somatic hematopoietic clones arise early in life, most commonly harboring heterozygous mutations in EIF6 or TP53 . (nature.com)
Heterozygous TP53 mutation was detected in 12 of 185 (6%) analyzed cases. (elsevierpure.com)

Mutation analyses of exon 2 - 11 were performed using TTGE, followed by sequencing. (uit.no)
Thus, by combining statistical and experimental analyses, we provide a curated mutation database for TP53 mutations and a framework for mutation database analysis. (scilifelab.se)

The accuracy of reported mutations is a critical issue that is commonly overlooked, which leads to mutation databases that include a sizable number of spurious mutations, either sequencing errors or passenger mutations. (scilifelab.se)

Molecular and pathological review of mutation-negative cases showed evidence of p53 dysfunction associated with copy number gain of MDM2 or MDM4, or indicated the exclusion of samples as being low-grade serous tumours or carcinoma of uncertain primary site. (ox.ac.uk)

LFS fibroblast cells that are homozygous for TP53 mutations are deficient in global nucleotide excision repair of DNA and have increased genetic instability. (wikipedia.org)
TP53 mutation status was assessed by performing nucleotide sequencing and immunohistochemistry. (biomedcentral.com)

TP53 mutations define a maladaptive pathway with enhanced leukemic potential by inactivating tumor suppressor checkpoints without correcting the ribosome defect. (nature.com)
Disruption of the TP53 pathway is a well-known prerequisite for continued proliferation of cells with massively damaged DNA. (lu.se)

Anatomy12

Organisms12

Diseases22

Chemicals and Drugs72

Analytical, Diagnostic and Therapeutic Techniques and Equipment29

Psychiatry and Psychology2

Phenomena and Processes111

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Named Groups3

Health Care7

Genes19

Germline9

Tumors16

Cancers11

Gene mutation5

Genomic7

Prevalence4

Point mutations2

Pathogenic3

CARCINOMAS6

Prognostic9

Guardian of the Genome2

Prognosis5

Biallelic2

High grade serous1

Genetic mutations3

Amplification1

Protein3

Exons1

Colorectal cancer1

Missense mutations2

Amino acid3

Patients14

Clinical4

Multivariate analysis1

Cancer20

Syndrome5

Variant2

Functional3

Mutant6

Genome1

CDKN2A1

Chromosome1

Alterations2

Assays3

Survival3

Somatic mutation1

Aberrant1

BRAF2

Heterozygous2

Analyses2

Commonly1

Molecular1

Nucleotide2

PATHWAY2