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Application of gene mutation site and mutation site detection method

A gene locus and gene technology, applied in the field of adjuvant papillary thyroid cancer drug-related mutations in papillary thyroid cancer, can solve the problems of low prediction accuracy and lack of prediction methods for thyroid cancer, and achieve excellent and accurate sequencing results , Reduce detection time and cost, reduce the effect of workload

Pending Publication Date: 2021-11-02
湖北省中医院
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0010] In view of the above problems, the present invention provides the use of gene mutation sites, which mainly solves the problem that the current prediction accuracy of thyroid cancer is not high, and some high-precision prediction methods are still lacking; at the same time, the prediction methods of thyroid cancer need to be supplemented.

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  • Application of gene mutation site and mutation site detection method
  • Application of gene mutation site and mutation site detection method
  • Application of gene mutation site and mutation site detection method

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Embodiment Construction

[0070] The present invention is described further below:

[0071] The application of a gene locus in the preparation of thyroid cancer prevention and treatment drugs and / or the preparation of thyroid cancer detection reagents, wherein the gene locus is any of the following

[0072] PTEN-p.E299*, PIK3CA-p.H1047R, BRAF-p.G464V,

[0073] PTEN-p.H61N, PIK3CA-p.E545K, BRAF-p.G469A,

[0074] PTEN-p.Q214*, PIK3CA-p.E542K, BRAF-p.G469V,

[0075] PTEN-p.Q245*, PIK3CA-p.E542Q, BRAF-p.N581S,

[0076] PTEN-p.Q298E, PIK3CA-p.E545D, BRAF-p.G469R,

[0077] PTEN-p.W111*, PIK3CA-p.E545Q, BRAF-p.V600E,

[0078] PTEN-p.Y68*, PIK3CA-p.E453del, KRAS-p.G12V,

[0079] PTEN-p.P248L, PIK3CA-p.N1044K, KRAS-p.G12C,

[0080] PTEN-p.T319fs, PIK3CA-p.Q546P, KRAS-p.G12A,

[0081] TP53-p.Y205C, PIK3CA-p.R108H, KRAS-p.G12D,

[0082] TP53-p.R158L, NRAS-p.Q61R, KRAS-p.G13D,

[0083] TP53-p.V157F, NRAS-p.Q61L, KRAS-p.Q61H,

[0084] TP53-p.R248Q, NRAS-p.Q61K, KRAS-p.A146V,

[0085] TP53-p.H179R, HRAS-p...

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Abstract

The invention belongs to the technical field of medicine, and relates to application of a gene mutation site and a mutation site detection method. The invention mainly discloses application of a PTEN-p.P248L gene locus, a PTEN-p.T319fs gene locus, a BRAF gene V600E locus, an NRAS gene Q61R locus, an RET gene M918T locus, an NRAS gene Q61K locus, an HRAS gene Q61R locus and the like in preparation of thyroid cancer prevention and treatment drugs and / or preparation of thyroid cancer detection reagents. The mutant PTEN gene at least comprises one of the following site mutation: PTEN-p.P248L site mutation, and the base change is c.743C > T; the PTEN-p.T319fs site is mutated, and the basic group is changed into c.955_956insAA. The invention further discloses a capture method in high-throughput sequencing. The invention provides the mutant gene which is related to papillary thyroid carcinoma targeted medication and has a high proportion, so that the sites can be purposefully detected and can be better used for adjuvant therapy, the workload of detection and data analysis is effectively reduced, and the detection time and cost are reduced.

Description

technical field [0001] The invention belongs to the field of medical diagnosis, and in particular relates to the use of mutations related to targeted drugs for papillary thyroid cancer in adjuvant treatment of papillary thyroid cancer. Background technique [0002] Thyroid cancer is the most common malignant tumor in the endocrine system. It is a malignant tumor derived from thyroid epithelial cells. The pathological types mainly include papillary thyroid cancer (PTC) and follicular thyroid cancer (FTC). , medullary thyroid cancer (me-dullary thyroid cancer, MTC) and anaplastic thyroid cancer (anaplastic thyroid cancer, ATC). The overall prognosis is good. Follicular adenocarcinoma grows faster, is moderately malignant, and easily metastasizes through blood supply. Medullary thyroid carcinoma is rare, and it is a tumor derived from thyroid C cells. Undifferentiated carcinoma is the rarest, and the prognosis is poor. , The average survival time is 3 to 6 months. Among thyro...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6886C12Q1/6869C12N15/11A61K45/00A61P35/00
CPCC12Q1/6886C12Q1/6869A61K45/00A61P35/00C12Q2600/156C12Q2600/106C12Q2600/136C12Q2523/308C12Q2531/113C12Q2535/122
Inventor 刘庆王庆陈继东欧阳丽凌家艳
Owner 湖北省中医院
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