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Research found: RBBP8 gene mutation is a key factor in young women suffering from breast cancer

2021-04-28
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The human CtIP gene, also known as RBBP8, is located on the long arm 11.2 of chromosome 18 and can encode the CtIP protein. There are many studies on CtIP protein, and the relationship between it and tumor pathogenesis is constantly being recognized. Mutations of CtIP protein can be found in a variety of human tumor cell lines. Recombinant protein purification research can further purify the protein, improve protein quality, and provide a research basis for obtaining enough biologically active proteins for research. The RBBP8 gene, which encodes the CtIP protein, has not previously been found to be involved in the occurrence of hereditary breast cancer. A recent study found that mutations in the RBBP8 gene are associated with breast cancer in young women.

RBBP8, carboxy-terminal binding protein reactive protein (CtIP), plays a key role in cell cycle monitoring point regulation and DNA damage repair, not only as an early “receptor” of damage and monitoring, but also as a “mediator” and The “executor” performs its function to ensure the normal operation of the cell cycle monitoring mechanism and the correct repair of DNA damage.

The genomic DNA of all organisms is not stable, and it is easy to undergo various changes to cause mutation. One of the most important forms of mutation is genetic mutation. Gene mutation refers to the structural change that occurs within a certain gene from one allelic form to another allelic form. It has been reported in the literature that the deletion or mutation of one allele of CtIP can lead to the occurrence of various types of tumors such as lymphoma, breast cancer, and colorectal cancer. Therefore, the CtIP protein is functionally equivalent to a tumor suppressor protein.

Studies have shown that RBBP8 normally protects cells from the destruction of the genome. On the contrary, the decreased function of RBBP8 may cause cancer. Recently, Klaus Stogard Sorensen, research director of BRIC from the University of Copenhagen, said that they have studied the biological significance of RBBP8 gene mutations in female breast cancer patients. In this patient group, they think Genetic factors played a role.

The genetic basis of hereditary breast and ovarian cancer is the lack of haploids that control the stability of the genome. Homologous recombination (HR) repair is the main approach for these cancers. In order to identify new candidate genes, the researchers tested BRCA1 (breast cancer susceptibility gene) and BRCA2 pathogenic variants negative for early-onset breast cancer patients. Previously, it was reported in the literature that the C-terminal tandem sequence BRCT of BRCA1 often mutated, causing the CtIP protein to not specifically bind to BRCA1 through the BRCT domain, causing CtIP inactivation and loss of tumor suppressor effect, leading to the occurrence of breast and ovarian cancer.

With the continuous deepening of genetic research, the biological function of CtIP protein will be deeply studied. Recombinant protein purification technology can provide a research basis for obtaining enough biologically active CtIP proteins. In order to study proteins, protein separation and recombinant protein purification are first required to obtain highly purified and biologically active proteins. Medicilon can provide protein separation and purification services from small-scale trial to large-scale production according to customer requirements, and customize suitable processes and systems for customers according to process requirements and product characteristics.

Researchers from the University of Copenhagen focused on CtIP (RBBP8 gene), which mediates HR repair through end excision of DNA double-strand breaks (DSB). It is worth noting that the patient showed some rare germline RBBP8 mutations, and functional analysis showed that these mutations did not affect the efficiency of DNA DSB end resection.

  This study was based on a specific patient, but the team subsequently studied the RBBP8 gene in Danish patients and a larger international population. Danish researchers screened 129 young breast cancer patients under 35 years old. They were all diagnosed with breast cancer when they were young (under 35 years old). Subsequently, the researchers tested 1092 breast cancer or other cancers who did not have breast cancer. Cancer patients with BRCA1 or BRCA2 gene mutations have undergone extensive genetic sequencing.

  Mutations in the RBBP8 gene may explain why some young women develop breast cancer. Basic scientific research on this protein has shown that RBBP8 plays a vital role in protecting and regulating human DNA because it can repair damaged chromosomes.

Clinical Professor Finn Cilius Nielsen said, “Our collaboration has made rapid progress because we have the opportunity to combine clinical data with basic scientific methods. This helps us better understand the causes of breast cancer. And other complex mechanisms and rare genetic mutations that increase the risk of cancer.”

  Researchers hope that this research will lay the foundation for discovering more genes that may cause cancer, and provide research that helps cancer patients in the early detection, diagnosis and treatment in the long term. Further research is needed, including family studies and international studies, in order to more accurately clarify the risk of mutations.

With the continuous deepening of genetic research, the study of the relationship between RBBP8 gene mutation and breast cancer may become another important means of breast cancer treatment, providing a more broadly beneficial idea for the diagnosis and clinical treatment of breast cancer.

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