Prevalence of somatic and germline mutations in patients with Primary or relapsed endometrial carcinomas

Recruiting

Conditions: Endometrium
C54.1

Registration Number: DRKS00030300

Lead Sponsor: AGO Research GmbH, AGO Studiengruppe

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Female

Target Recruitment: 400

Inclusion Criteria

1. Signed written informed consent.
2. Patients = 18 years with primary or any relapsed endometrial carcinomas (all subtypes), diagnosed or treated within the last 6 months.
3. Available tumor samples (tumor tissue sample of primary diagnosis and/or relapsed disease if available). For early stage disease 1st priority sample: tumor from hysterectomy specimen. If not sufficient tumor load is present 2nd priority sample: tumor from dilation and curettage (D&C). For relapsed patients, tumor sample from time of relapse would be preferred.

Exclusion Criteria

1. Non-invasive carcinomas or precancerous lesions. (History of prior malignancy is allowed).
2. No available tumor sample
3. Missing informed consent
4. Any medical condition preventing informed consent
5. Failure to consent to registration, not willing to storageallow storage or handling of personal information, blood or tumor samples, or not willing to participate in assessment of family history.

Study & Design

Study Type: observational

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
• Detection of genetic germline and somatic mutations in patients with endometrial cancers

Secondary Outcome Measures

Name	Time	Method
• DNA and IHC-analysis to classify into tumor subgroups (p53, POLE, MMR, Copy number high and low) <br>• Correlation of genetic germline and somatic mutations, cancer treatment, progression free and overall survival and development of secondary malignancies<br>• Evaluation of quality of life using validated questionnaires (EORTC QLQ-30 and its module EN24) <br>• Family history of hereditary cancer syndromes using tools for BRCA and HNPCC<br>• Evaluation of PD1 /PDL1 tumor expression <br>• Estimation of the frequency and prognostic relevance of L1-CAM and HER2 expression in all patients and patients with serous histology, respectively <br>• Quantification of MLH1 promotor methylation<br>• Detection of HRD phenotype<br>• Description of genetic differences between primary and relapsed tumor samples