Prevalence of Germline Alterations in Actionable Genes in Endometrial Cancer

NCT07066969 | Not Yet Recruiting

• 1 other identifier: UID 4914
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Endometrial Cancer

Outcome Measures

Primary Outcomes (1)

• Frequency of actionable germline alterations in tBRCA mutated endometrial cancer.

  Genomic DNA will be extracted from peripheral blood leukocytes and analyzed with the SOPHiA DDM™ Hereditary Cancer Solution (HCS) v2.0.

  18 months

Study Arms (1)

Endometrial Cancer patients with tumoral BRCA

OTHER

Patients with diagnosis of endometrial cancer

Genetic: Sophia DDM

Interventions

Sophia DDM GENETIC

Germline panel for patients with tumoral BRCA alteration in EC

Endometrial Cancer patients with tumoral BRCA

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• diagnosis of EC
• tumoral BRCA mutation

You may not qualify if:

• Age \< 18 years

Sponsors & Collaborators

• European Institute of Oncology: lead

Study Sites (1)

European Institute of Oncology

Milan, 20141, Italy

Location

MeSH Terms

Conditions

Endometrial Neoplasms

Condition Hierarchy (Ancestors)

Uterine Neoplasms; Genital Neoplasms, Female; Urogenital Neoplasms; Neoplasms by Site; Neoplasms; Uterine Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases

Study Officials

• Ilaria Betella, MD

  European Institute of Oncology

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Ilaria Betella, MD

CONTACT

+390257489431; ilaria.betella@ieo.it

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 4, 2025
• First Posted: July 15, 2025
• Study Start: January 22, 2026
• Primary Completion (Estimated): April 1, 2027
• Study Completion (Estimated): April 1, 2027
• Last Updated: January 22, 2026

Record last verified: 2025-06

Locations

IT (1)