Kit for homologous recombination repair defect detection

Abstract

The invention discloses a kit for homologous recombination repair defect detection. A multi-probe targeted capture technology is combined with a next-generation sequencing technology to enrich and detect the variation conditions of 25 genes, wherein the 25 genes include ARID1A, BRCA1, BRCA2, POLG, ATR, BRIP1, MSH2, RAD51C, ATM, MLH1, MRE11A, RAD50, ATRX, CHECK1, MUTYH, RAD51D, BAP1, CHECK2, NBN, SMARCB1, BARD1, FANCE, PALB2, WRN and BLM.

Description

technical field [0001] The invention relates to the fields of molecular biology and medicine, in particular to a kit for detecting recombinant repair defects. Background technique [0002] The development of cancer requires a series of lesion stages. Its development process is dominated by gene mutations, including DNA, RNA, protein and other levels of lesions. Among them, DNA changes are an important factor in the occurrence of cancer, including single nucleotide mutations. , small insertions and deletions, large structural variations and other common forms of variation. With the deepening of cancer research, the importance of homologous recombination loss (HRD) mechanism in different cancers has been continuously discovered. More than 50% of patients with high-grade serous ovarian cancer have significant DNA repair gene deletions, and 20-25% of prostate cancers have inactivating mutations in BRCA1 / BRCA2 or other genes involved in the homologous recombination pathway. Dur...

AI Technical Summary

Problems solved by technology

For example, cells with BRCA1 or BRCA2 mutations lack the wild genotype, resulting in the loss of DNA homologous recombination repair, resulting in gene mutations, leading to cancer

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