67 results about "Brca1 gene" patented technology

The invention relates to the technical field of gene detection, and provides a method and a primer for detecting mutation sites of all exon sequences of human BRCA1 and BRCA2 genes. The specific primers include forward and backward primers for amplifying all 24 exons covering the BRCA1 gene, and base sequences of the primers are as shown in SEQ ID NO: 001-062, as well as forward and backward primers for amplifying all 27 exons covering the BRCA2 gene, and base sequences of the primers are as shown in SEQ ID NO: 063-142. By virtue of a Sanger sequencing method, the method and the primer disclosed by the invention can be used for detecting the mutation of all exons of the BRCA1 gene and the BRCA2 gene and can be used for extending all exons of the entire BRCA1 and BRCA2 genes, covering all to-be-detected mutation sites. The method and the primer disclosed by the invention are quite high in specificity and accuracy, simple to operate and low in cost, and can be used for greatly enhancing the risk assessment of hereditary breast cancer and effectively reducing the onset risk of the breast cancer.

The invention discloses a mutant gene group for mammary cancer risk assessment and a detection kit thereof. The mutant gene group is a mutant gene set comprising the following seven genes: BRCA1 gene, BRCA2 gene, TP53 gene, MLH1 gene, MLH3 gene, MSH3 gene and CDH1 gene. The mutant gene group of the seven genes totally carries 25 mutant sites disclosed as Table 3. The invention also discloses a detection kit of the mutant gene group for mammary cancer risk assessment, which comprises probes or primers for detecting the mutant genes in the mutant gene group. The detection kit disclosed by the invention has the advantages of high detection efficiency, high detection speed, high detectable rate and the like.

The invention discloses a multiple PCR kit for detecting the eleventh exon mutation of breast cancer susceptibility gene and a preparation method thereof. The PCR amplification primers of the kit are composed of primers pair 1 which consist of SEQIDNO:1 and SEQIDNO:2 and primers pair 2 which consist of SEQIDNO:3 and SEQIDNO:4. The multiple PCR kit of the invention combines the SSCP technology with the DNA silver staining and can simultaneously screen the mutation conditions of the eleventh exon of BRCA1 gene and the eleventh exon of BRCA2 gene. The invention has the advantages of strong sensitivity, high accuracy, simple and convenient property, etc. and has important significance on the early detection and the forecast of the breast cancer.

The invention discloses a PCR (Polymerase Chain Reaction) kit for detecting BRCA (Breast Cancer) genic mutation, which is characterized by comprising a plurality of primer pairs used for specifically amplifying a BRCA gene targeting sequence, wherein each primer pair contains a continuous nucleotide sequence formed by at least 15 continuous nucleotides in the 2nd exon of a BRCA1 gene or the 20th exon of the BRCA1 gene or the 11th exon of a BRCA2 gene; the 2nd exon of the BRCA1 gene has a continuous nucleotide sequence of SEQ ID No:1; the 20th exon of the BRCA2 gene has a continuous nucleotide sequence of SEQ ID No:2; and the 11th exon of the BRCA2 gene has a continuous nucleotide sequence of SEQ ID No:3. The kit completes the judgment on the sample genotype by adopting a saturation probe and a high resolution dissolution curve analyzing technology, thereby providing the guidance for medication selection and genetic predisposition of familial breast cancer and ovarian cancer.

The present invention discloses a construction method of a tumor BRCA1/2 gene variation library for high-throughput sequencing detection, wherein the tumor BRCA1/2 gene variation library covers the mutations at all the exon regions of the human BRCA1/2 gene. According to the present invention, the complete exon sequences of the BRCA1 gene and the BRCA2 gene are subjected to single-tube amplification to rapidly complete the construction of the library, wherein the construction time of the whole library is only 2-3 h, and the manual time is only 15-30 min; and by combining the obtained library and the high-throughput sequencing platform, the difficult problem that the detection of the complete exon sequence is required on the basis of the small amount of the clinical samples in tumor diseases in the clinic can be effectively solved, and the cost is low.

The invention discloses a BRCA1/2 gene variation deciphering database and a constructing method thereof. The database comprises Chinese population BRCA1/2 gene variation histological information, Chinese population BRCA1/2 gene variation frequency and Chinese population BRCA1/2 gene variation deciphering result. According to the BRCA1/2 gene variation deciphering database according to the invention, the Chinese population BRCA1 gene and BRCA2 gene variation site information and related information of variation frequency in Chinese population are firstly collected and processed comprehensively.Furthermore a deciphering result which aims at the Chinese population BRCA1/2 gene variation is included. The database is established for aiming at the Chinese population characteristic. Therefore the variation characteristic of the Chinese population BRCA1/2 gene can be presented in a relative comprehensive manner. Therefore the deciphering result is more suitable for the Chinese population.

Systems and methods for determining whether a cancer patient may respond to PARP inhibitor and/or platinum chemotherapy based on identifying exon excision variants in the BRCA 1 gene are provided. Exon excision variants may encode a hypomorphic BRCA1 protein. The cancer patient may be a breast cancer patient or an ovarian cancer patient. The patient may have any cancer in which exon deficiency in the BRCA1 gene contributes to resistance to PARP inhibitor or platinum therapy.

The invention provides methods for identifying mutations, such as single nucleotide polymorphisms (SNPs), within breast and ovarian cancer associated genes that modify the binding efficacy of microRNAs (miRNAs). In a preferred embodiment, methods of the invention identify a SNP that decreases expression of the BRCA1 gene by increasing or decreasing the binding efficacy of at least one miRNA. Alteration of miRNA binding to BRCA1 by the introduction of SNPs within miRNA binding sites modulates or decreases BRCA1 expression, ultimately leading to the unregulated cell proliferation of a breast or ovarian cancer cells.

The invention provides a BRCA1/2 genovariation combined detection kit and belongs to the field of genovariation detection. The kit comprises a BRCA1 gene primer group, a BRCA2 gene primer group, polymerase, a PCR reaction liquid, a digestive enzyme, ligase, a ligase buffer solution, an attachment joint, a fluorescence probe, a Raq enzyme, a qPCR primer and a qPCR reaction liquid, wherein the Raq enzyme, the qPCR primer and the qPCR reaction liquid are used in a qPCR reaction. The combined detection kit can detect mutation sites of BRCA1/2 genes of breast cancer at the same time, the experimental result is high in sensitivity, the 5% or below of mutation rate can be detected, the detection sensitivity is greatly improved, the problems in the prior art are overcome, and meanwhile, the whole experiment process meets the requirements for mass and quick detection.

The invention belongs to the field of gene engineering and medical oncology and discloses BRCA1 gene g.41244291delT mutation and its application in breast cancer auxiliary diagnosis. The mutation BRCA1 gene sequence has a g.41244291delT site frame-shift mutation in comparison with BRCA1 normal gene sequence. The invention provides a new breast cancer-causing mutation site, and the mutation site can be used in early diagnosis of breast cancer.

The invention belongs to the fields of gene engineering and tumor medical science, and discloses a mutant gene for breast cancer auxiliary diagnosis and application of the mutant gene. The mutant gene has one or more mutant sites: a mutant site A which has g.41215910delA, g.41244291delT, g.41223130A>T and g.41256139T>A, and other mutation sites which have g.32912699A>G, g.32912799T>C, g.32929399dupT, g.32911757C>T, g.32911659-32911662delAAAA and g.32910963T>G compared with a normal BRCA2 gene sequence. The invention provides a breast cancer pathogenic mutation site combination, and the mutation site combination can be used for early diagnosis of the breast cancer.

The invention discloses a primer for simultaneous detection of a BRCA1/2 exon sequence and a chemotherapy drug site. The primer comprises: an exon amplification primer pair designed for BRCA1, an exonamplification primer pair designed for BRCA2, and a specific primer pair designed for an SNP site, wherein each exon amplification primer pair is divided into two groups respectively, and no amplification region overlapping exists inside each group of primers of the same gene; in each group of the primer pairs, the 5' end of an upstream primer of a first part primer is added with SEQ ID.NO1, andthe 5' end of a downstream primer is added with SEQ ID.NO2; the 5' end of an upstream primer of a second part primer is added with SEQ ID.NO2, and the 5' end of a downstream primer is added with SEQ ID.NO1; a group of the primer pair of the BRCA1 gene and a group of the primer pair of the BRCA2 gene are randomly combined to form two primer group pairs; and the 5' end of an upstream primer of the specific primer is added with SEQ ID.NO1, and the 5' end of a downstream primer of the specific primer is added with SEQ ID.NO2. The cost is low, throughput is high, a detection range is wide, and a detection time is short; and BRCA1/2 and the cancer chemotherapy drug detection site can be simultaneously detected.

The invention discloses a kit for detecting mutation sites of BRCA 1 gene, BRCA 2 gene and PALB 2 gene, comprising ARMS primers shown as SEQ ID NO. 1 to 12 and probes as SEQ ID NO. 20 to 23. In addition, the invention further discloses a method for detecting the mutation sites of the BRCA 1 gene, the BRCA 2 gene and the PALB 2 gene, which comprises the steps of 1) extracting a DNA (deoxyribonucleic acid) sample to be used as a DNA template; 2) performing fluorescent PCR (polymerase chain reaction) amplification on the DNA template by using the ARMS primers shown as the SEQ ID NO. 1 to 12 and the probes shown as SEQ ID NO. 20 to 23; 3) detecting the fluorescence intensity of a reaction system in the fluorescent PCR amplification, and judging the mutation of the mutation sites, namely the 10th exon and the 23th exon of the BRCA 1 gene, the 11th exon of the BRCA 2 gene and the 4th exon of the PALB 2 gene. The kit and the method provided by the invention are capable of overcoming the defects of low flux, long time consumption, limited detecting capability and the like in the existing sequencing technique, and have the advantages of quickness, high flux, good specificity, high sensitivity and the like.

The present invention relates generally to the field of human genetics, and more specifically to the detection of a specific type of germline mutations in the BRCA1 gene, which will predispose to breast and ovarian cancer. In addition, the invention relates to the molecular genetic mechanism that may have mediated the genesis of these mutations, in particular the role of Alu repetitive DNA elements present in the intronic regions of BRCA1. The invention further relates to somatic mutations of this type in the BRCA1 gene in human breast and ovarian cancer, and their use in the diagnosis and prognosis of human breast and ovarian cancer. The invention more particularly relates to the screening of this type of BRCA1 mutations in human genomic DNA, which are useful for the diagnosis of inherited predisposition to breast and ovarian cancer.

The invention relates to a universal BRCA1 gene multi-PCR (polymerase chain reaction) database creating reagent kit, and particularly provides a primer product, a polynucleotide sequence product, a corresponding reagent kit and a BRCA1 gene multi-PCR database creating or BRCA1 gene mutation screening method. Primers in the primer product comprise primer sequences shown as SEQ ID NO:1-84. Each polynucleotide sequence in the polynucleotide sequence product contains suspension linker sequences and an optional primer sequence shown as SEQ ID NO:1-84.