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Endometrial cancer genetic risks quantified

Friday February 14th, 2020

Some 24 genetic variants have been identified that together significantly increase risk of endometrial cancer, British researchers have reported.

Individually each variant increases risk by a tiny amount but together they can mean a woman's risk of developing the disease is tripled, according to the Manchester University researchers.

The findings come from an analysis of 149 scientific studies, published in the Journal of Medical Genetics.

The researchers said there is no convincing evidence for one MDM2 variant, rs2279744, to be a risk factor. But there were strong associations for variants in HNF1B, KLF, EIF2AK, CYP19A1, SOX4 and MYC.

Researcher Professor Emma Crosbie said: “These genetic variants linked to endometrial cancer risk are involved in cell survival, oestrogen metabolism and transcriptional control - when the information stored in our DNA is converted into instructions for making proteins or other molecules.

“Studies with larger cohorts are needed to identify more variants with genome-wide significance but until data from larger and more diverse cohorts are available, these twenty-four SNPs are the most robust common genetic variants that affect endometrial cancer risk.”

Association between genetic polymorphisms and endometrial cancer risk: a systematic review. Journal of Medical Genetics 13 January 2020

Tags: Cancer | Genetics | UK News | Women's Health & Gynaecology

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