GLACIER: A Study to Investigate the Genetics of LobulAr Carcinoma In Situ in EuRope
- 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
- 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.
Inherited variation predisposing development of lobular carcinoma in situ (LCIS) of the breast in women
Elinor Sawyer, MD
London Research Institute