Novel kit for detecting genetic mutation

Abstract

The invention provides a novel kit for detecting genetic mutation. The kit comprises a) a mutation region probe provided with a first detection marker and b) a mutation region wild type probe providedwith a second detection marker, wherein the mutation region probe can be hybridized with a mutation sequence in a hotspot mutation region of a gene; the mutation region wild type probe can be hybridized with a wild type sequence in a mutation region of the gene. A first signal of the first detection marker and a second signal of the second detection marker are obtained by using the kit, copy number and mutation frequency of the mutant gene are calculated, and whether mutation exists in the hotspot mutation region of the gene is determined.

Description

technical field [0001] The invention relates to a kit for detecting gene mutations and a method thereof, in particular to detecting gene mutations in hot spot mutation regions of genes. Background technique [0002] The detection of mutated genes has important guiding significance for clinical medication and personalized treatment. About 70% of breast cancers are positive for the expression of estrogen receptor α (ER), and conventional treatment uses endocrine therapy. However, approximately 25% of patients with primary breast cancer and almost all patients with metastatic breast cancer have or eventually develop endocrine resistance. Treatment of endocrine-resistant patients with endocrine therapy such as tamoxifen or aromatase inhibitors is ineffective. Recent clinical experimental data show that activating mutations in the gene ESR1 (the gene encoding ER) are an important reason for endocrine resistance in breast cancer, and these mutations are concentrated in the ligan...

AI Technical Summary

Problems solved by technology

Due to the extremely low levels of ctDNA in the blood, it is no longer detectable using conventional PCR methods

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