Genetics of Women With Lobular Carcinoma in Situ of the Breast

2014-07-24 14:20:15 | BioPortfolio


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.




- 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.


- 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.

Study Design



Breast Cancer


gene expression analysis, molecular diagnostic method, polymorphism analysis, protein expression analysis, medical chart review, questionnaire administration


Basildon University Hospital
United Kingdom
SS16 5NL




National Cancer Institute (NCI)

Results (where available)

View Results


Published on BioPortfolio: 2014-07-24T14:20:15-0400

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