225 results about "Specific mutation" patented technology

MicroRNA genes are highly associated with chromosomal features involved in the etiology of different cancers. The perturbations in the genomic structure or chromosomal architecture of a cell caused by these cancer-associated chromosomal features can affect the expression of the miR gene(s) located in close proximity to that chromosomal feature. Evaluation of miR gene expression can therefore be used to indicate the presence of a cancer-causing chromosomal lesion in a subject. As the change in miR gene expression level caused by a cancer-associated chromosomal feature may also contribute to cancerigenesis, a given cancer can be treated by restoring the level of miR gene expression to normal. microRNA expression profiling can be used to diagnose cancer and predict whether a particular cancer is associated with an adverse prognosis. The identification of specific mutations associated with genomic regions that harbor miR genes in CLL patients provides a means for diagnosing CLL and possibly other cancers.

Disclosed are methods of isolating a TCR having antigenic specificity for a mutated amino acid sequence encoded by a cancer-specific mutation, the method comprising: identifying one or more genes in the nucleic acid of a cancer cell of a patient, each gene containing a cancer-specific mutation that encodes a mutated amino acid sequence; inducing autologous APCs of the patient to present the mutated amino acid sequence; co-culturing autologous T cells of the patient with the autologous APCs that present the mutated amino acid sequence; selecting the autologous T cells; and isolating a nucleotide sequence that encodes the TCR from the selected autologous T cells, wherein the TCR has antigenic specificity for the mutated amino acid sequence encoded by the cancer-specific mutation. Also disclosed are related methods of preparing a population of cells, populations of cells, TCRs, pharmaceutical compositions, and methods of treating or preventing cancer.

The invention relates to a screening device of a pathogenic uniparental disomy, a storage medium and a processor, wherein the screening device, the storage medium and the processor belong to the fieldof gene detecting technology. The screening device comprises the components of a data acquisition module which is used for acquiring whole exome sequencing data; a site screening module which is screening a preset-condition mutation; an LOH determining module which is used for performing LOH determining according to the obtained mutation condition; and a UPD determining module which is used for determining the UPD according to the LOH and determines a close relative relation when the number of chromosomes with LOH is higher than 2; determines fragment deletion when the fragment with LOH is asingle copy; and determines other fragments with LOH as UPD. The screening device performs LOH determining and finally obtains a UPD determining result through screening the specific mutation site. Based on whole exome sequencing data, a risk of pathogenic UPD existence can be reminded in testing routine pathogenic mutations, and furthermore no additional experiment or manpower cost is required.