Trial Information

Genetic Analysis of Cancer Susceptibility Alleles in the CARE Case-Control Study

The purpose of the women's CARE study was a population based case control study designed to
evaluate risk factors for breast cancer among white and African American women ages 35-64 in
the United States. The study cases were U.S. born English-speaking women newly diagnosed
with pathologically confirmed invasive breast cancer between July 1994 and April 1998. Cases
were identified by the Surveillance, Epidemiology and End Results (SEER) cancer registry at
each center except for Philadelphia where they were ascertained by field staff from local
hospitals. African-American women were over sampled, as were younger case patients to
maximize numbers in those strata. Older white case patients were randomly sampled to provide
approximately equal numbers of patients in each 5-year age category. A total of 4575 cases
were interviewed including 2953 white women and 1622 African American women.

Controls were U.S. born English-speaking women who had never been diagnosed with invasive or
in situ breast cancer identified by random digit dialing. Controls were frequency-matched to
cases by study center, race, and five-year age group. A total of 4682 controls were
interviewed of which 3021 were white and 1661 were African American.

Information collected similarly from cases and controls focused on factors potentially
related to the risk of breast cancer, including, reproductive, menstrual, oral contraceptive
(OC) and Hormone Replacement Therapy (HRT) use histories; lifestyle factors such as smoking,
alcohol use, body weight, and physical activity; selected history of medical conditions and
procedures; demographic characteristics; and a detailed family history of cancer.

A total of 1652 Cases and 1453 controls provided high quality DNA in the form of blood
samples. The Ostrander lab's role in the study was to screen the complete coding region, as
well as intron-exon boundaries of 1652 cases and 600 controls for mutations in the BRCA1 and
BRCA2 genes using both denaturing high performance liquid chromatograph (DHPLC) and direct
sequencing. In addition we screened 1652 cases and 1453 controls for germline variants in
the androgen receptor (AR), Insulin Like Growth Factor-1 (IGF-1) and vitamin D receptor
(VDR) genes. The lab work for the study has been completed, and analysis is currently
underway. This IRB file does not include a request to do any additional lab work. The focus
of this request is to continue analysis of the now completed lab work in collaboration with
the data-coordinating center at the Fred Hutchinson Cancer Research Center. Data
coordination is lead by Drs. Kathleen Malone and Janet Daling of the Public Health Sciences
Division of the FHCRC.