• Inherited variation predisposing development of lobular carcinoma in situ (LCIS) of the breast in women
  
• Frequency and effect of variants on tumor risk
  
• Clinical setting variant test value in identifying, counseling and screening those women at higher risk
  

• LCIS genetic changes which may progress to invasive cancer
  

OBJECTIVES:

Primary

• Identify inherited variation that predisposes women to develop lobular carcinoma in situ (LCIS) of the breast.
• Identify the frequency of these variants and determine the effect they have on tumor risk.
• Determine how worthwhile it would be to test for these variants in the clinical setting so that those at higher risk could be identified, counseled, and screened.

Secondary

• Analysis of genetic changes within LCIS with the aim of identifying cases of LCIS which may progress to invasive cancer.

OUTLINE: Patients and control participants undergo blood collection. DNA is extracted from blood samples and used to genotype at selected polymorphisms, compare allele frequencies (used to associate alleles with disease) using a genome-wide single nucleotide polymorphism (SNP) screen. Archival tumor samples (if available) from patients are used for DNA-, RNA-, or protein-based analyses.

All participants complete a questionnaire about family history, a brief medical history, and provide epidemiological data to a genetic counselor. Participants identified to be at risk for known hereditary predisposition to cancer will be referred to a clinical genetics service. Individual results of this study are not disclosed to participants.

Peer Reviewed and Funded or Endorsed by Cancer Research UK.

PROJECTED ACCRUAL: A total of 2,000 participants (1,000 patients and 1,000 matched controls) will be accrued for this study.

DISEASE CHARACTERISTICS:

• Meets 1 of the following criteria:

  • Current or prior diagnosis of lobular carcinoma in situ (LCIS) of the breast, including any of the following cases:

    • Pure LCIS
    • LCIS with subsequent development of invasive breast cancer of any morphological subtype
    • LCIS presenting as an incidental finding together with invasive breast cancer of any morphological subtype

  • Control participant matched for age and ethnicity to each LCIS patient

    • Not affected by LCIS
    • No history of ductal carcinoma in situ of the breast
    • No breast cancer
    • No relative (up to 2nd degree) who has been affected by breast cancer
    • Male or female

PATIENT CHARACTERISTICS:

• Not specified

PRIOR CONCURRENT THERAPY:

• Not specified