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The analysis of the recently emerged ST6Gal1*7 rare allele demonstrated that the detected mutation, which was named as ST6GAL1*7, caused truncation of ST6Gal1 in human leukocytes. ST6Gal1*7 is a rare allele of the ST6Gal1 gene, located on chromosome 5. Truncation of ST6Gal1 caused by ST6Gal1*7 results in reduced expression of sialyltransferase enzyme, essential for glycan biosynthesis. In addition, its reduced expression leads to the accumulation of aberrant glycans in the cell surface, which may promote malignant transformation and may also interfere with the recognition of tumor cells by the patient’s immune system. This rare allele is associated with an increased risk of developing a variety of cancers, such as breast, lung, and colorectal. The exact mechanism of how ST6GAL1*7 increases cancer risk is yet to be determined, however, it is speculated that the altered glycosylation associated with the ST6GAL1*7 allele is partly responsible for cancer development.
The ST6GAL1*7 variant is currently identified in a small proportion of the population, estimated to be around 0.4%. The presence of the variant has been found to be more common in East Asians, in which it is estimated to be around 2%. ST6GAL1*7 is likely to be a low-penetrance allele, which means that whilst it may increase the risk of developing cancer, it is not often the direct cause.
The altered glycosylation caused by the rare ST6GAL1*7 allele may affect the recognition of tumor cells by the patient’s immune system, decreasing the success of cancer immunotherapy. Additionally, it has been suggested that ST6GAL1*7 may be a prognostic marker, predicting a worse outcome for patients with certain malignancies such as prostate cancer.
Given the rising recognition of the importance of protein glycosylation in the development of cancer, research on ST6GAL1*7 and its role in cancer development is essential in understanding how this rare allele increases cancer risk. Further research may lead to the development of more effective interventions targeting this variant. Additionally, it is possible that ST6GAL1*7 could be used as a biomarker to detect those at risk for developing cancer, allowing for early detection and treatment to be successful.