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Aurora magazine

The risk of endometrial cancer depends on 24 genetic variants

Professor Emma Crosbie, of the University of Manchester, analyzed 2,674 extracts and 149 scientific studies concerning endometrial cancer. The observations revealed 24 genetic variants possibly underlying the disease. The discovery will help refine the search for new treatments and develop tests for early detection.

The research in question is the most complete analysis of endometrial cancer studies carried out to date. The researchers systematically analyzed all the genetic variants mentioned, assessing the reliability of the evidence and the implications. This allowed them to isolate a limited number of genetic variants linked to the tumor, identifying those with a greater relevance.

The most significant variants are 19, to which are added 5 of medium importance. The anomalies affect the HNF1B, KLF, EIF2AK, CYP19A1, SOX4 and MYC genes. All variants are related to estrogen metabolism, cell survival and transcription control. Instead, there seems to be no evidence to support the rs2279744 variant of MDM2, considered in the past to be a risk factor.

Taken individually, a genetic variant increases the risk of cancer very little. But when they start to add up, the risk also multiplies. This applies to different types of cancer, including endometrial cancer.

Specifically, the sum of the variants mentioned above increases the risk of getting sick by 3.16 times. Depending on the variants present in the genome examined, it will be possible to evaluate how likely the person is to get sick. This will facilitate any early diagnosis and the creation of personalized treatments.