Detectable germ line tp53 mutations germ line mutation. Medical search. Frequent questions

If these DNA mutations are left unchecked, some cells can divide uncontrollably, forming tumors (cancers). (wikipedia.org)
Younger age at diagnosis, no residual disease post debulking surgery and low CA125 levels following surgery and chemotherapy were clinical characteristics of LT. Tumors from LT survivors had increased somatic mutation burden (median 1.62 vs. 1.22 non-synonymous mutations/Mbp), frequent BRCA1/2 biallelic inactivation through mutation and loss of heterozygosity, and enrichment of activated CD4+, CD8+ T cells, and effector memory CD4+ T cells. (biomedcentral.com)
Initiation and propagation of tumors reflect underlying genomic alterations such as mutations, polymorphisms, and copy number variations found in genes of multiple cellular pathways. (hindawi.com)
Recently, recurrent genomic rearrangements in intron 1 of TP53 have been described in osteosarcoma (OS), a highly malignant neoplasm of bone belonging to the spectrum of LFS tumors. (oncotarget.com)
Screening of 288 OS and 1,090 tumors of other types revealed evidence for TP53 rearrangements in 46 (16%) OS, while none were detected in other tumor types, indicating this rearrangement to be highly specific to OS. (oncotarget.com)
Comprehensive genomic tumor profiling helps to detect clinically relevant mutations in cancer-associated genes of solid tumors and provides valuable information for selecting the most efficient treatment for each patient. (cegat.com)
Mutation signatures, genes with SNA or CNA of CSEC216 and published ESCC cell lines were similar with the mutation spectrum of original ESCC tumors. (biomedcentral.com)
The current study also reported the genomic similarity of 28 ESCC cell lines and original ESCC tumors. (biomedcentral.com)
Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. (lookformedical.com)

Testing for germline BRCA1, BRCA2 and TP53 mutations was not available in our clinic. (biomedcentral.com)
Although inherited mutations in a small number of genes account for only about five to ten percent of women's cancers, by far the BRCA1 and BRCA2 gene mutations are the most common examples of this observation (50-70% of familial breast cancers) [ 2 ]. (hindawi.com)
In cancer prediction and early detection, specific germline mutations like BRCA1 and BRCA2, TP53, gene rearrangements, etc., can be detected using NGS. (medicalbuyer.co.in)
The mutations of BRCA2 gene predispose the cells towards neoplastic development. (biomedcentral.com)

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)
More than 90% of cases of MDS harbor detectable drive mutations including: DNMT3A, EZH2, RUNX 1, TET 2, IDH 1, IDH 2, TP53, ASXL1, and mutations in genes in coding components involved in the three prime RNA splicing. (standardofcare.com)

Inherited mutations in a small number of genes account for about five to ten percent of women's cancers.These inherited variations, identified in breast, ovarian, and endometrial cancer susceptibility, can be characterized in the general population by their frequency and the magnitude of their impact upon a patient (Table 1 ).Some inherited variants occur rarely in the general population, but confer large risks to the individual. (hindawi.com)
An example of this class of genes is a mutation in the CHEK2 gene in breast cancer. (hindawi.com)
Despite these advances made in identifying inherited breast cancer susceptibility genes, the vast majority of breast cancers are sporadic, that is, no identifiable mutation in one of the known breast cancer susceptibility genes. (hindawi.com)
Mutation-driver genes cause clonal outgrowth and propagation of myelodysplastic hematopoiesis. (standardofcare.com)
However, if something goes wrong in this process, and the mutations occur in important genes, mistakes can build up and cause disease. (globmed.co.uk)
Genes play an essential role in controlling cell growth and reproduction, so mutations that influence this process can cause cells to grow uncontrollably, which is the key characteristic of cancer. (globmed.co.uk)
Mutations can cause oncogenes to become overactive or tumour suppressor genes to become inactive. (globmed.co.uk)
Recent technological advancements in the characterization of ctDNA, 5 7-9 including those to inform therapy selection through detection of EGFR gene mutations or other actionable changes in panels of genes 10-12 have demonstrated the feasibility and clinical utility of blood-based tests to guide the clinical management of patients with cancer, typically at late stages. (bmj.com)

Subsequent development of leukemia was associated with acquisition of biallelic TP53 alterations. (nature.com)
Somatic (nongermline) TP53 tumor suppressor gene mutations are common in sporadic human cancers, suggesting that TP53 alterations play an important role in the development of cancer. (medscape.com)
In this pilot study, we sought to identify clinical and molecular factors that distinguish HGSOC patients who share similar clinical characteristics and pathology at diagnosis with exceptional survival outcomes, either LT or ST, through integrated analysis of clinical features, germline variants, somatic genomic alterations, and tumor immune microenvironment. (biomedcentral.com)
17 Germline p16 INK4a alterations are associated with familial melanoma. (bmj.com)
Both p53 wild type and p53 mutant samples were included in the p16 INK4a analysis to determine whether germline alterations of one gene precluded the occurrence of alterations of the other. (bmj.com)
When bulk tumor tissues are profiled for somatic copy number alterations (sCNA) and point mutations, it may be difficult to estimate their cellular fractions when a mutation falls within a sCNA. (biomedcentral.com)
TP53 loss elicited progressive aneuploidy, including copy number alterations and structural variants prevalent in gastric cancers, with evident preferred orders. (stanford.edu)
These data imply a polygenic "two-hit" model where germline risk reduces the number of somatic alterations required for tumorigenesis. (stanford.edu)

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)
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)
A germline mutation of the TP53 tumor suppressor gene results in Li-Fraumeni syndrome. (medscape.com)
Li-Fraumeni syndrome has been linked to pathogenic germline mutations of the tumor suppressor gene TP53 . (medscape.com)

Several female malignancies including breast, ovarian, and endometrial cancers can be characterized based on known somatic and germline mutations. (hindawi.com)
However, somatic mutations have no risk implications to the patient for other cancers, and have no cancer risk implications to their family members. (ambrygen.com)
Hereditary mutations can increase the risk of developing certain types of cancer, but are only responsible for a small percentage (around 5-10%) of all cancers. (globmed.co.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)
Moreover, a broad range of cell line and transgenic animal experiments show direct involvement of TP53 mutations in malignant transformation. (medscape.com)
Several recent studies have also pointed to the role of somatic mutations in non-malignant neurological diseases of childhood, such as malformations of cortical development, epilepsy or autism spectrum disorders [ 7 ]. (biomedcentral.com)
Longitudinal single-cell sequencing of TP53-deficient gastric organoids similarly indicates progression towards malignant transcriptional programmes. (stanford.edu)
In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (lookformedical.com)

Here we model occult preneoplasia by biallelic inactivation of TP53, a common early event in gastric cancer, in human gastric organoids. (stanford.edu)

These missense mutations cause a decrease in the ability of p53 to bind to DNA, thus inhibiting the normal TP53 mechanism. (wikipedia.org)
The identified recurrent nonsynonymous missense mutations included KRAS , NRAS , EIF1AX , UBR5 , and DNM3 mutations . (biomedcentral.com)
For the two samples, somatic DNM3 nonsynonymous missense mutations in the exonic region were validated using Sanger sequencing. (biomedcentral.com)
The third sample contained two missense mutations in the intronic region of DNM3 , leading to a frameshift mutation detected in RNA transcripts in the RNA-seq data. (biomedcentral.com)

The clone has a advantage provided by the somatic genetics change with driver mutations. (standardofcare.com)
We detected 178 driver mutations reaching variant allele frequency ≥ 2% in at least one timepoint, many of which were detectable well below this threshold at earlier timepoints. (biomedcentral.com)
Sensitivity for the detection of driver mutations is highly dependent on sequencing depth. (biomedcentral.com)

Somatic mutation is not a static process in myelodysplastic syndrome and additional mutations will accumulate leading to more profound phenotypic worsening cytopenias, and approximately 30% of patients will eventually experience progression to secondary AML. (standardofcare.com)

Mutations in this gene predispose humans to breast and ovarian cancer. (lookformedical.com)

The detection rate of gene mutations was overall 84.4% (54/64). (bvsalud.org)
These include a restricted range of detectable pathogens, low sensitivity, and prolonged detection cycles, which pose challenges in identifying infections caused by rare or novel pathogens. (medicalbuyer.co.in)
Similarly, real-time PCR is also used for mutation detection (BCR-ABL1, PML-RARA, EGFR, KRAS, etc.) and for monitoring the drug response in cancer diagnosis and treatment. (medicalbuyer.co.in)
We review cell-free DNA (cfDNA)-based approaches using mutations, methylation, or fragmentomes for early cancer detection. (bmj.com)
Single-cell laser microdissection was utilized to identify the minimal number of tumor cells needed for mutation detection. (takarabio.com)

Characteristics of ST survival included focal copy number gain of CCNE1 , lack of BRCA mutation signature, low homologous recombination deficiency scores, and the presence of ESR1-CCDC170 gene fusion. (biomedcentral.com)
This study is looking at the effectiveness of combining a PARP inhibitor called niraparib and an immunotherapy called dostarlimab for treating people with an inherited BRCA mutation (found with genetic testing) or a tumor mutation (found through tumor testing) who have breast, pancreatic, ovarian, fallopian tube or primary peritoneal cancer that is metastatic or advanced and cannot be removed by surgery (unresectable). (facingourrisk.org)
Molecular defects are often represented by hereditary BRCA (Breast cancer gene) mutations leading to altered DNA repair, thus presuming higher efficiency of DNA-damaging agents, such as platinum drugs and poly-ADP-ribose polymerase (PARP) inhibitors. (cttjournal.com)

13 14 Although p16 INK4a is most frequently inactivated by homozygous deletion, point mutations or somatic methylation of 5′ regulatory regions are also important mechanisms of gene inactivation. (bmj.com)

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)
Li-Fraumeni syndrome (LFS) is a rare autosomal dominant syndrome in which patients are predisposed to cancer due to mutations in the TP53 gene. (medscape.com)
it showed superior progression-free and overall survival with ibrutinib-rituximab compared with FCR, in particular in patients without the IGHV mutation, and lower rates of serious infectious complications with ibrutinib-rituximab. (medscape.com)
Most patients with myelodysplastic syndrome have greater than one mutation and a unique pattern of mutation with marked heterogeneity. (standardofcare.com)
Adverse mutations are present in approximately 20% of patients with very low risk MDS with a median survival nearly one third shorter than that have low-risk patients without these mutations. (standardofcare.com)
For patients with low and intermediate IPSS risk, mean overall survival was approximately 50% shorter compared with those without mutations. (standardofcare.com)
Patients with the greater number of somatic mutations have inferior overall survival. (standardofcare.com)
On the other hand, germline mutations have cancer risk implications for patients and their family members. (ambrygen.com)
We cultivated a cohort of 1,250 localized European-descent patients with germline and somatic DNA profiling. (stanford.edu)
In a systematic analysis of 416¬†patients with t-MN and detailed prior exposure history, we found that TP53 mutations were significantly associated with prior treatment with thalidomide analogs, specifically lenalidomide. (dana-farber.org)
Hundreds of thousands of cancer patients have had targeted (panel) tumor sequencing to identify clinically meaningful mutations. (biomedcentral.com)

13 p16 INK4a is a cyclin dependent kinase inhibitor that is frequently mutated or deleted in many human cancer cell lines 14-16 and some sporadic malignancies, including sarcomas, breast cancer, leukaemia, and brain tumours, which are all component tumours of LFS. (bmj.com)

This patient who carries the MSH2 germline mutation developed an infiltrating ductal carcinoma of the left breast with distant metastases at the first presentation. (biomedcentral.com)

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)

A 26-year-old pregnant woman, mutation carrier, developed an aggressive breast cancer, refractory to standard chemotherapy regimens. (biomedcentral.com)
The segregation of the mutation with the disease phenotype and these results suggest that MSH2 inactivation may be involved in the accelerated breast carcinogenesis and might be considered in the cancer screening program. (biomedcentral.com)
There is strong evidence that inherited genetic factors (mutations plus single nucleotide polymorphisms) can play a major role in breast cancer susceptibility [ 1 ]. (hindawi.com)
In view of the comparable biological and phenotypic features of p53 and p16 INK4a inactivation, we proposed that germline inactivation of the p16 INK4a gene could account for the predisposition to cancer development in a proportion of LFS families that harboured wild type p53 . (bmj.com)
Somatic mutations of TP53 are among the most common in cancer and germline mutations of TP53 (usually missense) can cause Li-Fraumeni syndrome (LFS). (oncotarget.com)
Somatic mutations are limited to the malignancy/tumor and are relevant to the patient for management of their cancer. (ambrygen.com)
However, those who have inherited certain genetic mutations related to cancer might need fewer changes, placing them at a higher risk of developing the disease. (globmed.co.uk)
How Do Mutations Lead To Cancer? (globmed.co.uk)
Not all mutations will result in cancer. (globmed.co.uk)
As a tumour grows, its cells continue to accumulate more mutations, with each person having a unique combination of DNA changes in their cancer. (globmed.co.uk)
Even though inherited mutations are a less common cause of cancer, they can have larger effects because the mutation is present in every cell of an individual rather than only in one area of the body. (globmed.co.uk)
Hundreds of germline polymorphisms have been linked to prostate cancer diagnosis and prognosis. (stanford.edu)
Prostate Cancer Transcriptomic Regulation by the Interplay of Germline Risk Alleles, Somatic Mutations, and 3D Genomic Architecture. (stanford.edu)
Genome-wide association studies have identified at least 185 prostate cancer germline risk alleles, most noncoding. (stanford.edu)
Despite these discoveries, the patterns, rates, and properties of cxSVs have primarily been the focus of cancer genomics and such rearrangements remain largely underappreciated in the human germline. (biomedcentral.com)
Sustainable and uncontaminated cancer cell lines provide available resources for researchers to utilize. (biomedcentral.com)
Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. (lookformedical.com)
Clinical cancer research is mainly based on the use of cell line derived xenografts. (europdxworkshop.eu)

Many individuals with Li-Fraumeni syndrome have been shown to be heterozygous for a TP53 mutation. (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)
Here we report that multiple independent somatic hematopoietic clones arise early in life, most commonly harboring heterozygous mutations in EIF6 or TP53 . (nature.com)

Sanger sequencing was performed on the amplified DNA to confirm the results obtained from dPCR KRAS mutation analysis. (takarabio.com)
The most common recurrent mutations identified in LGSOC and its putative precursor, serous borderline ovarian tumor (SBOT), are BRAF and KRAS . (biomedcentral.com)

Using whole-genome sequencing of OS, we found features of TP53 intron 1 rearrangements suggesting a unique mechanism correlated with transcription. (oncotarget.com)
This paper compared the performance of the PicoPLEX DNA-seq Kit , the DOPlify WGA Kit, the REPLI-g Single Cell Kit, and the Ampli1 WGA Kit for aneuploidy screening and copy number analysis using shallow whole genome sequencing, starting from one, three, or five cells isolated from the Loucy cell line. (takarabio.com)
This is the first study to use whole-genome sequencing to detect somatic mutations in LGSOCs with matched normal tissues. (biomedcentral.com)

17 Methylation has not been reported to date in the germline. (bmj.com)

Objective: To investigate the distribution and characteristics of gene mutations in osteosarcoma, and to analyze the frequency and types of detectable mutations, and to identify potential targets for individualized treatment of osteosarcoma. (bvsalud.org)
Conclusions: The high-frequency mutation of TP53 suggests that it plays an important role in the pathogenesis and development of osteosarcoma. (bvsalud.org)

Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. (lookformedical.com)

The mutations can be inherited, or can arise from mutations early in embryogenesis, or in one of the parent's germ cells. (wikipedia.org)

LFS2: mutations in CHEK2 Another variant of Li-Fraumeni that remains somewhat controversial, is a mutation of the CHEK2 (or CHK2) gene. (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)
The contributions of any single genetic variation or mutation in a population depend on its frequency and penetrance as well as tissue-specific functionality. (hindawi.com)
Mutations that reached the conventional threshold for CHIP (2% frequency) tended to continue growing, indicating that after CHIP is acquired, it is generally not lost. (biomedcentral.com)

We developed a framework for inference of germline variants from tumor panel sequencing, including imputation, quality control, inference of genetic ancestry, germline polygenic risk scores, and HLA alleles. (biomedcentral.com)

Among them, TP53 had the highest mutation rate (21/64, 32.8%), single nucleotide variant was the main mutation type (14/23, 60.9%), and 2 cases carried the TP53 germline mutation. (bvsalud.org)
Analyze mutations at some specific single nucleotide polymorphism (SNP) sites. (bvsalud.org)

There is a growing body of evidence that therapy-related myeloid neoplasms (t-MNs) with driver gene mutations arise in the background of clonal hematopoiesis (CH) under the positive selective pressure of chemo- and radiation therapies. (dana-farber.org)

The tumor DNA was extracted to detect the somatic and germline mutations using targeted sequencing technology. (bvsalud.org)

The majority of classical LFS families harbour germline mutations of the p53 tumour suppressor gene. (bmj.com)
It can sometimes take years for these damaged cells to grow into a cancerous tumour that is large enough to cause symptoms or be detectable on medical scans. (globmed.co.uk)

Scope includes mutations and abnormal protein expression. (cancerindex.org)
TP53, which is located on band 17p13.1, codes for a 53-kd nuclear protein transcription factor that has important regulatory control over cell proliferation and homeostasis, specifically the cell cycle, DNA repair processes, and apoptosis. (medscape.com)
ERK inhibition on PIP protein level in MDA MB 453 and HCC 1954 cell lines. (cdantigens.com)

We also identify multiple cases of catastrophic chromosomal rearrangements known as chromoanagenesis, including somatic chromoanasynthesis, and extreme balanced germline chromothripsis events involving up to 65 breakpoints and 60.6 Mb across four chromosomes, further defining rare categories of extreme cxSV. (biomedcentral.com)

Our goal was to identify novel mutations, proteins, and mRNA transcripts that are dysregulated in LGSOC, particularly in short-term survivors. (biomedcentral.com)

The mutation may be inherited or occur de novo. (medscape.com)
The mutation occurs in hematopoetic stem cells capable of self renewal and additional mutations are associated with clonal progression may occur in progenitor cells conferring a self renewal capability. (standardofcare.com)
The term "genetic" can be confusing as it is used to refer to both inherited genetic mutations and genetic mutations that occur during a person's lifetime. (globmed.co.uk)
Mutations acquired during a person's lifetime usually occur spontaneously due to random cell replication errors. (globmed.co.uk)
These germline mutations occur in reproductive cells (eggs and sperm), and can be passed onto children, unlike acquired mutations. (globmed.co.uk)

TP53 typically become expressed due to cellular stressors, such as DNA damage, and can halt the cell cycle to assist with either the repair of repairable DNA damage, or can induce apoptosis of a cell with irreparable damage. (wikipedia.org)

citation needed] Mutant conditions: Mutations of TP53 can inhibit its normal function, and allow cells with damaged DNA to continue to divide. (wikipedia.org)
We demonstrated that YTHDC2 is expressed in the developing human fetal ovary and is upregulated in meiotic germ cells, together with related meiosis-associated factors. (bvsalud.org)
The paradox is that the mutation provides advantage at the stem cell level and progenitor cells, with a disadvantage at the level of hematopoietic precursors. (standardofcare.com)
the presence of malignancy increases the chance that cells with detectable levels of somatic mutations are present. (ambrygen.com)
The study used six cell lines with different karyotypes and prepared single cells, three to five cells, and 15 pg of isolated gDNA as input for WGA reactions. (takarabio.com)
We demonstrated experimentally that lenalidomide treatment provides a selective advantage to Trp53-mutant hematopoietic stem and progenitor cells (HSPCs) in¬†vitro and in¬†vivo, the effect of which was specific to Trp53-mutant HSPCs and was not observed in HSPCs with other CH mutations. (dana-farber.org)
reported that many cell lines had been switched or cross-contaminated with Hela cells. (biomedcentral.com)
Any detectable and heritable alteration in the lineage of germ cells. (lookformedical.com)
Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not. (lookformedical.com)
They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS. (lookformedical.com)
Aging is also associated with a higher prevalence of acquired somatic mutations, especially in frequently regenerating cells, such as hematopoietic stem cells (HSC). (biomedcentral.com)

[ 2 ] The following are the criteria for classic Li-Fraumeni syndrome, Li-Fraumeni-like syndrome, and the Chompret criteria, which provide guidelines for consideration of TP53 genetic testing. (medscape.com)

The majority of clonal mutations (52.1%) expanded over time (with a median doubling period of 7.43 years), with the others remaining static or decreasing in size in the absence of any cytotoxic therapy. (biomedcentral.com)

To understand the mechanisms that mediate germline genetic leukemia predisposition, we studied the inherited ribosomopathy Shwachman-Diamond syndrome (SDS), a bone marrow failure disorder with high risk of myeloid malignancies at an early age. (nature.com)
These results mechanistically link leukemia predisposition to germline genetic constraints on cellular fitness, and provide a rational framework for clinical surveillance strategies. (nature.com)

A regular follow-up of a Lebanese pedigree with Lynch syndrome due to a point mutation of MSH2 gene at the splice donor site of intron 3 started in 1996. (biomedcentral.com)

Misidentifying and cross-contaminations of cell lines also hamper the way of producing solid and reproductive data. (biomedcentral.com)

Modulation of the AR ERK feedback loop in molecular apocrine cell lines MDA MB 453 and HCC 1954 was carried out using AR inhibitor flutamide and MEK inhi bitor CI 1040 as we previously published. (cdantigens.com)
Fluta mide remedy was carried out at 25 nM and forty nM concentrations in MDA MB 453 and HCC 1954 cell lines, respectively. (cdantigens.com)
Each cell lines have been grown to 60% confluence and taken care of selleckchem from the following groups, 1 manage with car only treatment method, two CI 1040 at two ?M, 3 flutamide treatments at 25 nM or forty nM, four mixture of CI 1040 at two ?M and flutamide treatments, and 5 CI 1040 at ten ?M concentration. (cdantigens.com)
The fold modifications for gene expression following treat ments were calculated relative to that of your manage group in both cell lines. (cdantigens.com)
We observed that PIP, DUSP6, S100A8, and FOXA1 expression had been consis tently diminished from the inhibition of AR and ERK as well since the mixed inhibition of these two signaling path strategies in each cell lines. (cdantigens.com)
71 in MDA MB 453 cell line and 0. (cdantigens.com)
Cell lines are widely used disease models for basic medical research, however, well characterized ESCC cell models from China were seldom reported. (biomedcentral.com)
Background information and genomic mutation data of published ESCC cell lines were obtained from online databases. (biomedcentral.com)
CSEC216 was an uncontaminated cell line, exhibited epithelial cell features with polygonal morphology and adherent growth as monolayer. (biomedcentral.com)
ESCC cell line CSEC216 from high incidence region in China was established with no cross-contamination. (biomedcentral.com)
Genomic mutation features of CSEC216 and 28 ESCC cell lines were characterized which provided thorough cytogenetic background that facilitated future usage. (biomedcentral.com)
Human cell lines are now widely used in laboratories worldwide. (biomedcentral.com)
The first continuous cell line Hela, was established in 1952 (7). (biomedcentral.com)
Therefore, authorization of newly established cell lines is utterly needed. (biomedcentral.com)
There are abundant esophageal squamous cell carcinoma (ESCC) cell lines around the world. (biomedcentral.com)
Here we report a newly established and authorized ESCC cell line designated CSEC216, derived from a 45-year old male patient from the Chaoshan littoral. (biomedcentral.com)
This cell line would serve as potent in vitro model for the exploration of the pathogenesis of ESCC. (biomedcentral.com)
Hepatoid adenocarcinoma (HAC) is a primary extrahepatic carcinoma of non-germ cell origin showing morphological features of hepatocellular differentiation. (gastrores.org)

This mutation has only been found in Brazilian families, and is located in exon 10 of the TP53 gene. (wikipedia.org)
We revisited a four-generation LFS family where no TP53 mutation had been identified and found a 445 kb inversion spanning from the TP53 intron 1 towards the centromere. (oncotarget.com)
Among all SNVs and indels, 2637 mutation sites were found in the exonic regions. (biomedcentral.com)

Although combination chemotherapy regimens, including the nucleoside analogue fludarabine, were once the most commonly used first-line therapy in CLL, non-chemotherapy regimens (eg, with Bruton tyrosine kinase [BTK] inhibitors) are currently preferred in most cases. (medscape.com)

Anatomy33

Organisms17

Diseases15

Chemicals and Drugs50

Analytical, Diagnostic and Therapeutic Techniques and Equipment30

Psychiatry and Psychology1

Phenomena and Processes118

Disciplines and Occupations1

Information Science4

Health Care4

Tumors9

BRCA24

Harbor detectable2

Genes8

Alterations8

Tumor supp4

Cancers3

Malignant5

Biallelic inactivation1

Missense mutations4

Driver mutations3

Somatic mutation1

Gene predispose1

Detection5

BRCA3

Point mutations1

Patients14

Sporadic1

Infiltrating ductal ca1

Homozygous1

Cancer18

Heterozygous3

KRAS2

Whole-genome3

Methylation1

Osteosarcoma2

Genotype1

Embryogenesis1

CHEK21

Frequency3

Alleles1

Nucleotide2

Clonal hematopoiesis1

Detect1

Tumour2

Protein3

Rearrangements1

Proteins1

Occur5

Typically1

Cells11

Genetic Testing1

Median1

Leukemia2

Syndrome1

Reproductive1

Cell18

Found3

Commonly1