A recent discovery by scientists has revealed at least four new genes linked to breast cancer, potentially revolutionizing the way women at risk are identified. While well-known genes such as BRCA1 are already associated with breast cancer, these four previously unknown genes have been found to significantly increase the risk. It is estimated that about one in 200 women in the UK carry harmful versions of these genes. This breakthrough opens up the possibility of using blood tests to identify women who are at higher risk of developing breast cancer but may have been previously overlooked.
The four genes identified are MAP3K1, LZTR1, SAMHD1, and CDKN2A. Professor Doug Easton, who led the study at the University of Cambridge, emphasizes that although there is still much to learn about breast cancer, this discovery is a crucial step forward. He suggests that in the future, these blood tests could be made available to all women, not just those with a family history of breast cancer. Currently, the five most important genes associated with breast cancer only account for about 10% of the increased risk in women with a family history. The four newly discovered genes explain an additional 1% of the risk, enabling the identification of thousands of women who may benefit from more frequent screening. This advancement will greatly improve the accuracy and effectiveness of genetic tests.
The study, published in Nature Genetics, analyzed the genes of over 26,000 women with breast cancer and compared them to over 217,000 women without the disease. Researchers focused on identifying specific gene “typos” or mutations that prevent the body from producing or functioning properly with proteins that are crucial in preventing breast cancer. One of the genes, MAP3K1, was found to increase the risk of breast cancer by five times, although it is a rare occurrence. While the study has currently identified only four genes, the significant potential for up to 90 more genes to be linked to breast cancer has been revealed.
In order to determine the importance of these potential genes, further research needs to be done involving a larger pool of women. The four newly discovered genes, like previously identified ones, have the potential to increase breast cancer risk by inhibiting the production of proteins that prevent tumor growth or prevent DNA errors that lead to tumor formation. Recognizing the symptoms of breast cancer, such as lumps, changes in color or texture of the skin, discharge, and nipple abnormalities, becomes even more crucial with this new knowledge.
In conclusion, this groundbreaking discovery of these four new genes associated with breast cancer has the potential to improve the identification and monitoring of women at higher risk. With further research, a greater number of women can benefit from this knowledge and receive more personalized care.
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