Improving risk estimates for familial breast cancer

Completed

Conditions: Breast cancer
mammary carcinoma
10006291
10038608

Registration Number: NL-OMON33487

Lead Sponsor: eids Universitair Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 600

Inclusion Criteria

- Patient has an elevated risk to develop breast cancer on the basis of her family history for the disease
- Patient has been tested for DNA mutations in BRCA1 and BRCA2
- If patient is known with breast cancer, she has at least two first- or second degree relatives with breast cancer
- If patient has no personal history of breast cancer, she has at least three first- or second-degree relatives with breast cancer
- Families are elible for inclusion if at least two breast cancer patients are alive at the time of ascertainment to donate blood and/or a skin biopsy

Exclusion Criteria

1. Individuals younger than 18
2. Individuals with mental illnesses

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>1. A rare high-risk mutation in a gene that is associated with breast cancer,<br /><br>of relevance to the individual.<br /><br>2. A common low-risk SNP-variation in a gene that is associated with breast<br /><br>cancer, of relevance to the familial breast cancer group as a whole.<br /><br>3. A genetic profile that occurs more often among affected family members than<br /><br>among controls (sporadic patients or healthy subjects).<br /><br>4. An association between the result of a functional assay on cell material of<br /><br>study participants and disease status, at the individual or familial level.<br /><br>5. A gene expression profile in cell material of study participants that is<br /><br>associated with disease status, at the individual or familial level.<br /><br>6. A proteomics profile in cell or serum material of study participants that is<br /><br>associated with disease status, at the individual or familial level.</p><br>

Secondary Outcome Measures