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BRCA1 and BRCA2 Mutation in Romanian Population: a Study of Genotype - Phenotype Correlation at Diagnosis With Prospective Disease Outcome and Survival

NCT02317120 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 250

Last updated 2017-02-01

No results posted yet for this study

Summary

Primary objective To determine BRCA1 and BRCA2 variants in 250 Romanian women with breast/ovarian cancer selected for likeliness to harbor germline mutations in these genes by specific criteria for high-risk status including age at disease onset.

Secondary objective Considering the fact that BRCA testing is not a routine procedure in Romania and mutation prevalence varies in different populations, we intend to look for the founder mutation in our population, running full BRCA genes sequencing to a representative population sample. This would allow a more targeted approach to real-life practice and would ensure personalized solutions for every patient in need.

Conditions

  • To Determine the Prevalence, Penetrance of BRCA1 and BRCA2 Mutations in Romanian Womens With Breast or Ovarian Cancer

Interventions

GENETIC

NGS BRCA 1 and BRCA 2 full sequencing

GENETIC

Multiplex ligation-dependent probe amplification (MPLA) BRCA1 BRCA2

Firstly many pairs of probes, containing: a universal primer sequence, a specific hybridisation target sequence and a stuffer DNA region to vary the size of the resulting product, are hybridised adjacent to each other on the target DNA strand .The two adjacent probe sequences are ligated to form a continuous section of DNA.The ligated probes are then amplified using PCR. The amplified fragments are analysed by capillary electrophoresis to detect the different fragment lengths. These data can be analysed to show the relative copy number of each fragment that is present in the sample.

Sponsors & Collaborators

  • Iuliu Hatieganu University of Medicine and Pharmacy

    collaborator OTHER

  • Alexandru Eniu

    lead OTHER

Principal Investigators

  • Alexandru Eniu, MD,PhD · ESMO

Eligibility

Min Age
18 Years
Max Age
75 Years
Sex
FEMALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-02-28
Primary Completion
2016-12-31
Completion
2016-12-31

Countries

  • Romania

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02317120 on ClinicalTrials.gov