Genetics of Women With Lobular Carcinoma in Situ of the Breast

RATIONALE: Gathering information about genetic changes in patients with lobular carcinoma in situ of the breast may help doctors learn more about the disease and find better methods of treatment. PURPOSE: This clinical trial is studying the genetics of women with lobular carcinoma in situ of the breast.

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.

invasive lobular breast carcinoma with predominant in situ component, invasive lobular breast carcinoma, lobular breast carcinoma in situ

Inherited variation predisposing development of lobular carcinoma in situ (LCIS) of the breast in women

Clinical setting variant test value in identifying, counseling and screening those women at higher risk

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