Increased risk of uterine cancer linked to 24 gene variants

Increased risk of uterine cancer linked to 24 gene variants

A high number of lifetime sexual partners raises cancer risk SNPs don’t always cause disease or affect normal development. The problem comes when a gene or a regulatory element near a gene has an SNP that changes the way the gene functions because this then can potentially give rise to specific diseases. Some prior studies have indicated that SNPs might cause some cases of endometrial cancer, but the exact extent of risk estimated showed wide variation. These studies were mostly done before the whole genome association studies were developed. There is no clear understanding of how an individual’s genetic makeup predisposes to endometrial cancer, and therefore no way to make a personalized cancer risk assessment. The study findings For this reason, the current study undertook to review all the available studies around this topic published in the period 2007 and 2018. The researchers found 149 studies relevant to this topic. Their analysis showed 24 SNPs to be common either within or near six different genes. Five of these gene variants were significantly associated with endometrial cancer odds, namely, HNF1B , CYP19A1 , SOX4 , MYC , KLF, and EIF2AK . Another 19 variants showed a more significant occurrence than could be attributed to chance alone. However, with the SNP that has undergone the most intense study, there was no convincing evidence. The limitations include the inclusion of mostly European ethnicities in most larger studies and the lack of reference genotypes for other racial origins. To obtain results that are more broadly applicable, more extensive and more inclusive studies need to be performed. Also, endometrioid tumors make up only about a fifth of all endometrial cancers, which means much more extensive studies need to undertaken to detect gene variants that contribute significantly to the risk of non-endometrioid tumors. On the other hand, most existing studies have examined either endometrioid or mixed histology, even though non-endometrioid tumors carry a far worse prognosis and are responsible for most of the mortality from endometrial cancer. The lack of a standardized and useful classification system for endometrial tumors is also a top priority for future research. Implications If all these 24 are present, or most of them, the risk for endometrial cancer goes up two- to threefold. However, this is likely to be only the tip of the iceberg, because almost 200 SNPs have been found to increase the risk of breast cancer . On the other hand, these 24 might be useful, incorporated into a single risk index, to forecast a personalized risk prediction for individual women. This could allow targeted screening and prevention for women at the highest risk of endometrial cancer. Journal reference: Bafligil C, Thompson DJ, Lophatananon A, et alAssociation between genetic polymorphisms and endometrial cancer risk: a systematic reviewJournal of Medical Genetics Published Online First: 17 February 2020. doi: 10.1136/jmedgenet-2019-106529



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