RATIONALE: Studying genes in samples of blood and/or tumor tissue from patients with cancer may help doctors identify biomarkers related to cancer.

PURPOSE: This research study is looking at blood and/or tumor tissue samples from patients with ductal carcinoma in situ and blood samples from healthy volunteers.

OBJECTIVES:

Primary

• To collect blood and/or tumor tissue of patients with ductal breast carcinoma in situ (DCIS) and their age- and ethnicity-matched controls to identify the inherited variation that predisposes women to develop DCIS.
• To determine the frequency of these variants.
• To determine the effect of these variants on tumor risk.
• To determine the benefit of testing for these variants in the clinical setting so that those at higher risk could be identified, counseled, and screened.

Secondary

• To analyze the acquired genetic changes within DCIS to identify which cases are more likely to develop invasive disease.

OUTLINE: This is a multicenter study.

All participants complete a questionnaire to collect their family history, a brief medical history, and epidemiological data.

Patients undergo collection of blood and/or tumor tissue samples; DNA is extracted for genotyping, comparison of allele and genotype frequencies (polymorphisms), genetic profiling, DNA analysis, and protein analysis. Histopathology reports are also collected. Healthy volunteers undergo collection of blood samples.

PROJECTED ACCRUAL: A minimum of 3,000 patients and 3,000 controls will be accrued for this study.

DISEASE CHARACTERISTICS:

• Prior or current diagnosis of pure ductal carcinoma in situ (DCIS)

  • Age ≤ 60 years at the time of diagnosis
  • DCIS with contralateral synchronous or asynchronous invasive breast cancer is permitted
  • DCIS associated with microinvasion (foci < 1 mm) is permitted

• Healthy age- and ethnicity-matched controls

  • No history of DCIS
  • No relative (up to second degree) diagnosed with DCIS

PATIENT CHARACTERISTICS:

• Not specified

PRIOR CONCURRENT THERAPY:

• Not specified