Prevalence of Germline Alterations in Actionable Genes in Endometrial Cancer

Brief summary (registry, in English)

Endometrial cancer (EC) is the most common gynecological cancer in developed countries, with 10200 new cases of EC (5.5% of all cancers) estimated in 2023 and 2500 death for EC estimated in 2022 in Italy. Recently, the classical clinicopathological risk factors, such as age, FIGO stage, myometrial invasion, tumor grade, lymphovascular space invasion, and lymph node status, have been associated with molecular features for EC risk stratification. The recently introduced molecular classification, based on a very relevant publication of the "Integrated genomic characterization of endometrial carcinoma" by The Cancer Genome Atlas research network in 2013,2 requires the evaluation of three surrogate molecular markers, namely POLE sequencing, p53 immunohistochemical (IHC) evaluation, and mismatch repair (MMR) protein IHC evaluation, in order to reproduce the TCGA model and translate it into clinical practice. This molecular-based risk stratification provides a more accurate prediction of recurrent or metastatic disease than traditional clinicopathological criteria; however, more molecular knowledge is needed to better understand EC. Recently, the European Institute of Oncology implemented a new molecular panel for somatic evaluation of EC (Sophia DDM). The panel includes 54 genes, including BRCA1 and BRCA2.

What you commit to

• Study type: Interventional
• Planned participants: 20
• From 22 Jan 2026 to the primary completion date, 30 Apr 2027
• 1 site in 1 country
• Visits and tests: ask the trial team, the registry does not list them

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Who cannot take part

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Who the study is looking for

Age in the registry: 18 years to - · Sex: Female · Does not accept healthy volunteers

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Sites (1)

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