Genetics of Women With Lobular Carcinoma in Situ of the Breast
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.
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