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Completed

NCT Number: NCT01333748

Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer

The purpose of this study is to determine proportion of patients presented a search allelic imbalance of expression of genes BRCA 1 and 2 in population with hereditary breast and/or ovarian cancer risk and negative for deletion mutation BRCA 1 and 2 genes

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Key information

Conditions

Hereditary Breast and Ovarian Cancer Syndrome Adnexal Diseases Breast Diseases Breast Neoplasms Congenital, Hereditary, and Neonatal Diseases and Abnormalities Endocrine Gland Neoplasms Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Genital Diseases Genital Diseases, Female Genital Neoplasms, Female Gonadal Disorders Neoplasms Neoplasms by Site Neoplastic Syndromes, Hereditary Ovarian Diseases Ovarian Neoplasms Skin Diseases Skin and Connective Tissue Diseases Urogenital Diseases Urogenital Neoplasms

Age range

18 year and older

Sex eligibility

Female

Study type

Interventional

Phase

Phase 2

Primary location

Dr Pascaline BERTHET, Caen, France

Loading trial locations.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

For patients

  • Women with breast cancer and / or ovarian cancer meet criteria suggestive of a hereditary predisposition
  • Deleterious mutation of BRCA1 and BRCA2 sought and not highlighted
  • Age ≥ 18 years
  • Agreeing to participate in the study (a collection of signed informed consent)

For control population

  • Women with no history of breast and / or ovarian cancer and no family history of breast and / or ovarian cancer among family members on the 1st and 2nd degree before age 50 for breast cancer and before 60 years for ovarian cancer
  • Agreeing to participate in the study (a collection of signed informed consent)

Exclusion criteria

For patients:

  • Patients with a known deleterious mutation in BRCA1 and BRCA2
  • Patients do not meet criteria suggestive of a hereditary predisposition
  • Persons deprived of liberty or under guardianship (including guardianship)

For control population:

  • Males
  • Personal or family history of breast and / or ovarian cancer (breast or ovarian cancer in their family experienced 1st and 2nd degree before age 50 for breast cancer before age 60 for cancer ovarian)
  • Persons deprived of liberty or under guardianship (including guardianship)

Treatment and study plan

blood collection

Genetic

blood collection for research quantification of allelic expression in the gene BRCA1.

Primary outcomes

  1. estimate the proportion of patients with allelic imbalance at the level of expression of BRCA1

    Time frame: blood sample at baseline, no follow-up in this study

    The main objective of this study is to estimate the proportion of patients with allelic imbalance at the level of expression of BRCA1 in a population meeting the criteria suggestive of a hereditary predisposition to breast and / or ovarian cancer , and negative for deleterious mutations of BRCA 1 and BRCA 2.

Secondary outcomes

  1. Study the variability of the measurement of the allelic expression depending on the position of SNPs

    Time frame: blood sample at baseline, no follow-up in this study

    Study the variability of the measurement of the allelic expression depending on the position of SNPs (Single Nucleotide Polymorphism) in the gene, in order to extend this research to variants of unknown significance whatever their position in the gene.

  2. proportion of patients with allelic imbalance at the level of expression of the BRCA2 gene

    Time frame: blood sample at baseline, no follow-up in this study

    Estimate the proportion of patients with allelic imbalance at the level of expression of the BRCA2 gene in the same population.

  3. Observe the possible effect of age

    Time frame: blood sample at baseline, no follow-up in this study

    The frequency of allelic imbalance of expression will be compared depending on the age of the witnesses in the control population. The potential effect of age on the presence or absence of allelic imbalance of expression will be observed.

Sponsors and collaborators

Lead sponsor

Centre Francois Baclesse

Other

Registry information

Acronym: EXSAL

Important dates

Study start
2010
Primary completion
2012
Study completion
2012
First posted
Apr 12, 2011
Registry last updated
Jul 13, 2012

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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