By University of Copenhagen — Medical X Press — 14 May 2020
A research team from the University of Copenhagen, BRIC and Rigshospitalet has located the RBBP8 gene and described its functions as a crucial factor in the development of breast cancer in a group of very young women — adding important knowledge to our understanding of hereditary genes and the biological mechanisms that underlie the development of breast cancer.
The researchers screened 129 young Danish patients diagnosed with breast cancer at under 35 years of age and subsequently performed extensive gene sequencing of a larger group of 1,092 patients with breast cancer or other cancers who did not have mutations in the BRCA1 or BRCA2 genes.
“We have now shown that RBBP8 normally protects the cells against damage to the genome and that a reduced RBBP8 function may, conversely, lead to cancer,” said Research Director Claus Storgaard Sørensen, BRIC, the University of Copenhagen. The RBBP8 gene, which codes for the CtIP protein, had not previously been associated with the development of hereditary breast cancer.
The researchers hope that this study will form the basis for discoveries of more genes that may predispose to cancer and, in the long term, offer studies that may help with early detection, diagnosis and treatment of cancer patients. Further studies, including family studies and international collaboration, are needed to more accurately map the risk of mutations.