Cancer-associated mutations were now studied using ‘whole- genome sequencing’ in the endometrial glands of the uterus. This helps to detect early changes that can activate invasive cancer. Samples from normal tissues are less frequent compared to cancer tissues available from biopsies or surgery. Moreover, specimen collection practices are not well established making it more challenging.
Endometrial glands present in the lining of the uterus are responsible for the secretion of hormones and other substances which are essential for menstruation and embryonic development. Among cancers, Endometrial one is the sixth common in women and its mortality rate is increasing dramatically, which convey the essentiality to study the associated cancer genetics.
About 257 normal endometrial glands of 28 women were collected and isolated using ‘laser– capture microdissection‘.The epithelial samples underwent whole- genome sequencing which was then analysed to identify any mutations. It was found that the normal endometrial tissue in 90% of the individuals contained driver mutations (which can cause cancer progression). They also found 12 genes which contained driver mutations. Interestingly, the endometrial gland seems to be clonal ( all the cells in the gland are derived from single epithelial progenitor cell), which confirms uniformity to the mutational process. Evidently, mutations increase with age and can develop anytime. We do expect these findings could trigger further research to detect such cancer at early stages.
– Serin Mary Binoy
Reference – nature
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