30 results about "Mutational status" patented technology

The miR15 and miR16 micro RNA genes are located at 13q14 within a 30 kb region of loss characteristic of cells from certain cancers, such as cells from chronic lymphocytic leukemia or prostate cancer. Chronic lymphocytic leukemia or prostate cancer can be diagnosed by detecting a reduction in miR15 or miR16 gene copy number, by determining miR15 or miR16 gene mutational status, or by detecting a reduction in the RNA transcribed from these genes. The miR15 or miR16 gene products can inhibit the neoplastic or tumorigenic growth of cancers such as chronic lymphocytic leukemia or prostate cancer cells when administered to subjects suffering from these diseases.

Methods for identifying a cancer patient, such as a breast cancer patient, suitable for treatment with a 4-anilinoquinazoline kinase inhibitor, such as lapatinib, and an AKT inhibitor, comprising detecting modulated expression of HER2 (ERBB2) and SASH1 or protein encoded thereof and detecting PIK3CA mutation status. High levels of expression in HER2 and high levels of SASH1 and/or positive PIK3CA mutation status indicate a patient that is suitable for treatment with a 4-anilinoquinazoline kinase inhibitor, such as lapatinib and an AKT inhibitor.

An ultra-sensitive, specific methodology for detecting PIK3CA mutations in biological samples of cancer patients, comprises a combination of allele-specific, asymmetric rapid PCR and melting analysis in a DNA sample from Circulating Tumor Cells, cell-free DNA in plasma/serum, or Formalin-Fixed Paraffin-Embedded tissues. Using the allele-specific primers for hotspot mutations in exons 9 and 20 (E545K and H1047R), detection can enhance amplification of mutant PIK3CA allele sequence, whereas presence of corresponding competitive blocking unlabeled probes for each exon can avoid non-specific amplification of wild-type PIK3CA sequence increasing the sensitivity and the specificity of method. The mutational detection is completed with melting curve analysis of the unlabeled probe and DNA template of the mutant PIK3CA sequence. Evaluation of PIK3CA mutational status on CTC in peripheral blood and cfDNA in plasma/serum of patients has potential for clinical applications and therapeutic interventions, since presence of PIK3CA mutations is associated with response to molecular targeted therapies.

The present invention provides compositions and methods for simultaneously detecting mutational status and gene copy number. In particular, the present invention provides simultaneous measurement of gene copy number and detection of the L858R and Exon 19 del mutations in a tissue sample.

The invention discloses a PCR detection method for human BRAF gene V600E mutation. The steps include: 1) extracting sample DNA and purifying it; 2) using the DNA as a template, adding an internal reference gene, and using specific detection method for human BRAF gene V600E site mutation The primer pair and probe of the status, as well as the primer pair and probe of the internal reference gene, are used for PCR reaction; 3) the mutation status of the V600E site of the sample BRAF gene is judged. The present invention also discloses a primer pair and a probe for specifically detecting the V600E site mutation status of the human BRAF gene for the above method and a kit comprising the above primer pair and the probe. The invention realizes rapid, accurate and sensitive detection of the V600E site mutation state by designing a primer pair and a probe for specifically detecting the V600E site of the human BRAF gene.

The invention discloses a dominant marker ASM-TNL-E-01 for identifying a wild state/mutation state of a Chinese cabbage TNL-E family gene, wherein a marker segment is 1367bp in size and a nucleotide sequence of the marker segment is as shown in SEQIDNo.1. Primers for identifying the specific molecular marker include a forward primer TNL1F:5'-TGAAACTTTCATTCAGCTTCAAGT-3' and a reverse primer TNL1R:5'-TTGGGTTAGTTTTCAACTTTCACA-3'; the sequences of the two primers are as shown in SEQIDNO.2 and SEQIDNO.3. The molecular marker can be used for identifying Chinese cabbage germ-plasm resources and assisting selective breeding, and a wild-type germ-plasm material or transformed offspring containing the TNL-E in 8407 is selected. A detailed method comprises the steps of: implementing PCR (Polymerase Chain Reaction) amplification on a genomic DNA (Deoxyribose Nucleic Acid) of an individual to be detected by utilizing the primers; detecting whether an amplified segment is generated; if a band is amplified, determining that a genome contains wild-type genes; otherwise, determining that the gene is mutated.

Disclosed herein are markers whose mutational status is associated with sensitivity to treatment with NAE inhibitors. Mutational status is determined by measurement of characteristics of markers associated with the marker genes. Compositions and methods are provided to assess markers of marker genes to predict response to NAE inhibition treatment.

The invention relates to a gene marker combination for predicting sensitivity of colorectal cancer patients to immunotherapy. The gene marker combination comprises an APC gene and an FAT1 gene. Wherein mutation states of the APC gene and the FAT1 gene have significant correlation with microsatellite instability (MSI) and tumor mutational burden (TMB) states, and the APC gene and the FAT1 gene can be used as new biomarkers to predict the sensitivity of the colorectal cancer patients to immunotherapy and predict the effectiveness of the immunotherapy in colorectal cancer patients. Compared with TMB which needs to detect at least hundreds of genes for calculation, the gene marker combination disclosed by the invention, as a biomarker, can predict the immunotherapy effect only by detecting mutations of a small number of key genes, so that the detection cost is greatly reduced; compared with MSI, the gene marker combination can cover more people according to gene detection and expand potential beneficiaries of immunotherapy.

The invention provides an immune sensitization predicted biomarker component, use and a kit equipment storage medium. The biomarker component at least comprises a microsatellite state and a mutation state of a B2M gene, wherein the mutation state of the B2M gene comprises one or multiple mutation sites in eight mutation sites as shown in a table 3 of the specification.

Methods for treating a cancer are provided, the methods comprising administering to an individual an effective amount of a hypoxia targeting composition, such as a hypoxia-activated drug or a prodrug thereof, and combinations thereof with an effective amount of a poly(ADP-ribose) polymerase (PARP) inhibitor. In some instances, one or more of a homology recombination (HR) efficiency status, an IDH mutation status, and a hypoxia status of a cancer is used as a basis for selecting an individual for a treatment disclosed herein. Also provided are compositions (such as pharmaceutical formulations), medicine, kits, and unit dosages useful for the methods described herein.

The invention relates to an in vitro process for classifying a glioma, comprising the following steps: a. Measuring at least, from a glioma patient biological sample, the Alternative Lengthening of Telomeres (ALT) status of said glioma; b. Optionally, determining the isocitrate dehydrogenase genes mutation status (IDH status) of said glioma; c. Based on the data obtained in steps (a) and optionally (b) and, if available, on the histological grade of said glioma, classifying said glioma in one of the five following classes: oligodendroglioma-like, glioblastoma IDHwt-like, glioblastoma IDHmt-like, low-grade astrocytoma-like, and other gliomas.

This specification relates to c-Met receptor tyrosine kinase ("c-Met") inhibitors and their use in the treatment of cancers characterised by certain MET mutations (e.g. cancers comprising cells that express a MET protein having a MET V1092I, MET H1094L or MET L1195F mutation); the use of MET mutation status to select patients suitable for treatment with a c-Met inhibitor; and to methods of treating cancers comprising cells that are characterised by certain MET mutations with a c-Met inhibitor.

An analysis apparatus is provided for analyzing a mutation state, including a mutation location in a base sequence and the content of the mutation, extracted from genetic information of a sample to be analyzed by sequence alignment. The apparatus includes: a receiving unit that receives mutant base sequence information representing the mutation state; a filter processing unit that that outputs a score determined depending on whether or not the mutation state represented by the mutant base sequence information received by the receiving unit is a structural mutation across multiple genes; and an output unit that creates rank information representing the degree of possibility that the mutation state is pathologic based on the score output by the filter processing unit and outputs the created rank information.

The present invention relates to 18-Fluor radiolabeled macrocyclic quinazoline compounds, which are suitable as positron emission tomography (PET) tracers for imaging epidermal growth factor receptors (EGFR), and their use in in vivo diagnosis, preclinical and clinical tumour imaging, patient stratification on the basis of mutational status of EGFR, and assessing tumour response to therapeutic treatments. The present invention also describes precursor compounds and methods of preparing the radiotracers. The invention is relevant to any cancer that is influenced or driven by deregulated EGFR, such as, but not limited to, non-small cell lung cancer (NSCLC), pancreatic, hepatocellular, oesophageal, gastric, colorectal, prostate, cervical, renal, ovarian, breast cancers, head and neck squamous cell carcinoma, and malignant glioma.

The present disclosure provides methods and systems of identifying a tumor patient for treatment with a combination of targeted therapy and immune oncology based on differential checkpoint expression patterns, and their association with mutation status, irrespective of the tumor tissue type. Also provided herein are methods of treatment for a tumor with a combination of targeted therapy and immune-oncology (IO) therapy.