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Breakthrough Blood Test May Revolutionize Breast Cancer Risk Assessment

In a significant advancement for breast cancer detection, scientists have pinpointed four novel genes associated with the disease, potentially paving the way for a more effective blood test to identify women at heightened risk.

While genes like BRCA1 have been recognized as linked to breast cancer, recent research has uncovered four previously unknown genes, one of which could escalate a woman’s susceptibility to the disease by up to five times.

The famed BRCA1 gene mutation, which was spotlighted by a Hollywood actress as elevating her breast cancer risk, is a well-established risk factor. However, the unveiling of these four new genes signifies that future blood tests designed to assess the hereditary predisposition for breast cancer might now identify individuals who would have been overlooked in the past.

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The newfound genes, named MAP3K1, LZTR1, SAMHD1, and CDKN2A, open the door to a more comprehensive understanding of breast cancer’s genetic foundations.

Lead researcher Professor Doug Easton, hailing from the University of Cambridge, expressed, “The initial major genes associated with breast cancer, BRCA1 and BRCA2, were only discovered in the 1990s, which implies a vast realm of the unknown. The blood tests currently accessible to women with a family history of breast cancer under the NHS to gauge their genetic risk are invaluable. In the future, it’s plausible that these tests could be extended to encompass all women.”

He emphasized, “Even though the five key genes for breast cancer elucidate only about 10% of the amplified risk in women stemming from their familial inheritance, the four genes we’ve uncovered can account for approximately an additional 1%. This is a pivotal stride towards identifying thousands of women at higher risk and offering them more frequent screenings. This breakthrough enhances the accuracy and precision of forthcoming genetic tests.”

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The research, detailed in the journal Nature Genetics, engaged in a comprehensive comparison of the genes in over 217,000 healthy women with those of over 26,000 women afflicted by breast cancer.

Imagine genes as texts composed of just four letters—A, G, C, and T, representing chemicals—each containing vital instructions for the creation of proteins within the body.

Scientists meticulously scanned this genetic script, seeking single-letter “typos” that might thwart the body’s protein production or interfere with proteins that fend off breast cancer.

Remarkably rare, these errors in the MAP3K1 gene could potentially amplify the risk of breast cancer development by up to five times.

Despite the current discovery of merely four genes, the study in collaboration with Canada’s Laval University postulates that as many as 90 additional genes could eventually be linked to breast cancer.

However, identifying which among these 90 genes truly play a substantial role necessitates analyzing a larger pool of women.

Mirroring the behavior of earlier identified genes, these fresh four genes might heighten breast cancer risk by impeding the function of proteins that either inhibit rapid tumor cell growth or thwart the replication of DNA errors culminating in tumor formation.

It’s crucial for women to remain vigilant about potential symptoms, including lumps, skin dimpling, color changes, discharge, and nipple rash or crusting—markers that could warrant a prompt medical evaluation for breast cancer.

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