JCI: Danish scientists find new breast cancer gene in young women

Introduction: According to the latest data from the 2018 International Agency for Research on Cancer (IARC), breast cancer is the highest incidence of cancer in women worldwide at 24.2%, with 52.9% occurring in developing countriesIn China, the incidence of breast cancer is increasing year by year, more than 300,000 women are diagnosed with breast cancer every yearBreast cancer is often referred to as the "pink killer", the incidence of female malignancies in the first placeWith the improvement of medical level, breast cancer has become one of the most effective solid tumorsover the past 20 years, we have made a leap forward in our knowledge of genetic diseases, and several genetic variants that can lead to cancer have been identifiedIt has long been learned that mutations in the human BRCA1 and BRCA2 genes can lead to cancer, especially in the ovaries and breastsBut researchers around the world also know that there are still a lot of variations in our genetic system that can lead to life-threatening diseases such as breast cancerA team ofthe University of Copenhagen, BRIC and Rigshospitalet has opened a new chapter in the study and is now adding important information to our understanding of genetic genes and the biological mechanisms of breast cancerThey have identified the RBBP8 gene and described its function as a key factor in breast cancer in a very young group of women"We looked at the biological implications of the RBBP8 gene variant in female breast cancer patients," said Klaus Storgaard S?rensen, research director at the University of Copenhagen,.
In this patient population, we believe that genetic factors play a roleOur research shows that RBBP8 normally protects cells from genome damage, whereas rbBP8's reduced functionality may lead to cancerthe RBBP8 gene, coded for the CtIP protein, has not previously been found to be associated with the occurrence of hereditary breast cancerIn a new study published May 14 in the Journal of Clinical Research, it was concluded that these are rare mutations and mutations The genetic basis for hereditary breast and ovarian cancer is the deficiency of the monoploids that control genomic stability factors Homologous recombination (HR) repair is the main route for these cancers To identify new candidates, the researchers tested patients with early-onset breast cancer with BRCA1 and BRCA2 pathogenic variants negative They focused on CtIP (RBBP8 gene), which is repaired by the end of DNA double-stranded fracture (DSB) to remove mediated HR It is worth noting that patients exhibited some rare variants of RBBP8, which functional analysis showed did not affect the end-removal efficiency of DNA DSB specific patients were the starting point
the study was based on a specific patient, but the team subsequently studied the RBBP8 gene in Danish patients and in a larger international community Danish researchers screened 129 young breast cancer patients under the age of 35 who were diagnosed with breast cancer at an early age (under 35 years of age), and then we sequenced a wide range of genes for 1,092 cancer patients with breast cancer or other cancers without BRCA1 or BRCA2 gene mutations Mutations in the RBBP8 gene may explain why some young women develop breast cancer Basic scientific studies of this protein have shown that RBBP8 plays a vital role in protecting and regulating human DNA because it can repair damaged chromosomes "We've made rapid progress in our collaboration because we have the opportunity to combine clinical data with basic scientific approaches," said Finn Cilius Nielsen, a clinical professor at This helps us better understand the complex mechanisms and rare genetic variants that increase the risk of breast cancer and other cancers needs further research
researchers hope that the study will lay the foundation for the discovery of more genes that may lead to the onset of cancer and provide research that will help early detection, diagnosis and treatment of cancer patients in the long term Further research, including family and international studies, is needed to more accurately understand the risk of mutations