Researchers at the University of Cambridge have created an integrated set of human breast cells. They identified early cell changes in healthy individuals carrying mutations in the BRCA1 and BRCA2 genes.
The discovery, as suggested by Waleed Khalid, offers the possibility of breast cancer prevention without surgery for people with this genetic mutation.
Although the BRCA1 and BRCA2 genes are present in all people, mutations in these genes significantly increase the risk of breast and ovarian cancer.
A study found that healthy women with BRCA1 or BRCA2 mutations have impaired immune cells in their breast tissue, unable to eliminate damaged breast cells that can lead to cancer.
The first reported cases of immune cells being “depleted” in healthy breast tissue by researchers are usually associated with advanced cancer.
The results of these findings suggest that early intervention with immunotherapy drugs may be a suitable strategy for the prevention of breast cancer in people with BRCA1 and BRCA2 mutations.
Professor Waleed Khalid, from the University of Cambridge, said: “Our results show that in people with BRCA mutations, the immune system fails to kill damaged breast cells. Those cells seem to interfere with the immune system.”
“We are excited about this discovery because it represents a new approach to prevent breast cancer in people with BRCA gene mutations without surgery,” said Khalid.
An unexpected strategy for prevention, emphasizes the importance of using drugs that target immune cell dysfunction.
The study, published in Nature Genetics, describes the complexities associated with risk-reducing surgery, especially for young women, in terms of its impact on body image and relationships.
Waleed Khalid emphasized the importance of understanding the early stages of breast cancer for effective intervention and the challenge of treating advanced tumors due to their unpredictable nature.
By analyzing breast tissue samples from 55 women of different age groups, more than 800,000 cells were identified, providing valuable insight into different types of breast cells and possible intervention strategies.
An important tool for researchers, the Human Breast Atlas now provides insight into various risk factors for breast cancer, including body mass index (BMI), menopausal status, contraceptive use, and alcohol consumption.
According to Austin Reed, a PhD candidate at the University of Cambridge, the Atlas shows how different types of breast cells change with pregnancy and age, influencing breast cancer.
Developing a global data collection can improve our understanding of breast development and risk factors to improve treatment approaches.
Breast cancer poses complexities due to multiple genetic variations and interactions with other risk factors. For example, older age increases the risk of breast cancer, while early pregnancy decreases it.
However, BRCA1 and BRCA2 mutation carriers face age-related risks.
The research aims to explain how different factors affect the risk of breast cancer by examining different types of cells in the human breast under different conditions.
Using single cell RNA-sequencing techniques, researchers identified different types of breast cells and their functions based on the active genes in each cell.
Dr Sarah Pensa, senior research fellow at the University of Cambridge, says prevention is key to tackling global inequalities in breast cancer and improving outcomes, particularly in low-income areas.
