An oncology study published in the British Newsletter magazine on the 4th pointed out that three rare gene mutations in estrogen receptor-positive breast cancer patients have adverse effects on the prognosis of the disease. At present, breast cancer has become a common tumor that threatens women's physical and mental health. In fact, the breast is not an important organ for maintaining human life. In situ breast cancer is not fatal. However, because breast cancer cells lose the characteristics of normal cells, the cells are loosely connected and easily fall off. Cancer cells can spread throughout the body with blood or lymph, forming metastasis and endangering life. Estrogen receptor-positive breast cancer refers to the growth of cancer cells received from estrogen and is a common type of breast cancer. The outcome of estrogen receptor-positive breast cancer is very significant, and the impact of rare genetic mutations on the prognosis of the disease remains unclear. It is well known that DNA mutations cause changes in cell biological traits and lead to cancer. But it is still difficult to understand the relationship between rare genetic mutations and disease outcomes. To determine the relationship between rare gene mutations and estrogen receptor-positive breast cancer, long-term clinical follow-up data and genetic information are needed. This time, Matthew Ellis, a scientist at Baylor College of Medicine, and colleagues studied the DNA information of three groups of postmenopausal (625) and premenopausal (328) estrogen receptor-positive breast cancer patients. By studying the archived sample organization and targeted sequencing of 83 genes, the team found that the poor clinical outcomes of estrogen receptor-positive breast cancer patients were associated with mutations in the three genes NF1, PIK3R1 and DDR1. The study confirms that rare frequent mutations affect prognosis, and this finding may help explain the significant differences in outcomes in estrogen receptor-positive breast cancer patients.
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