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Transformation Potential of E2 Exposed Breast Cancer Susceptibility Gene Mutation Heterozygous Epithelial Breast Cells

NCT01907438 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 30

Last updated 2013-07-25

No results posted yet for this study

Summary

Susceptibility to breast cancer is related to the combination of genetic, hormonal and multiple other environmental risk factors, such as mutations in the BRCA gene and excess exposure to exogenous estrogen, respectively. BRCA is a nuclear protein that maintains genome stability, by acting as a key player in the DNA repair complex. Recently, evidence has emerged that BRCA mutation heterozygosis itself enhances aborted DNA repair and can contribute to breast cancer initiation after exposure to irradiation. In our preliminary results on short-term lymphocyte cultures, we found additional evidence that healthy heterozygous BRCA1 and BRCA2 mutation carriers have a different response to DNA damage than do non-carriers.

The main aim of our ongoing project is to identify the transcriptional modulation and transformation potential of normal BRCA1 and BRCA2 mutation heterozygous epithelial breast cells following irradiation and to examine how it is affected by exposure to estrogen. Our hypotheses will be investigated by RNA-seq and microRNA-seq in order to identify a unique molecular expression profile of the estrogen exposed cells following ionizing irradiation.

Understanding the role of BRCA heterozygosity in cell response to exposure to estrogen and to irradiation may facilitate the development of more appropriate diagnostic and therapeutic strategies for these individuals.

Conditions

  • BRCA1 Gene Mutation
  • BRCA2 Gene Mutation

Sponsors & Collaborators

  • Hadassah Medical Organization

    lead OTHER

Principal Investigators

  • Asher Y Salmon, MD, PhD · Hadassah Medical Organization

Eligibility

Min Age
25 Years
Max Age
50 Years
Sex
FEMALE
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2013-09-30
Primary Completion
2014-09-30
Completion
2015-09-30

Countries

  • Israel

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 NCT01907438 on ClinicalTrials.gov