Tampa Bay Ovarian Ca Study:BRCA1/2

#C151 Tampa Bay Ovarian Cancer Study: A Population-based Study of BRCA1/2 in Ovarian Cancer.

Tuya Pal,1 Jeffery P. Krischer,1 Judith A. Betts,1 Jenny P. Wey,1 James Fiorica,1 Edward Grendys,1 Martin Martino,1 James LaPolla,2 Hector Arango,3 Katie Wakely,1 Mitchel Hoffman,3 George Wilbanks,3 Santo Nicosia,3 Rebecca Sutphen.1

Moffitt Cancer Center,1 Tampa, FL, Private Practice,2 St.Petersburg, FL, University of South Florida,3 Tampa, Florida.

BRCA1 and BRCA2 are believed to account for the majority of hereditary ovarian cancers. Current estimates of mutation likelihood among ovarian cancer patients based on the largest population-based data is 11.7% (Ontario population data).

To determine the prevalence, spectrum of mutations and genotype/phenotype correlations among ovarian cancer cases, we are conducting a population-based study of unselected incident cases of epithelial ovarian cancer in the geographic regions of Hillsborough and Pinellas counties, Florida (which includes Tampa, St. Petersburg, and Clearwater).

Beginning in 2001, we have enrolled 174 women diagnosed with incident ovarian cancer, ascertained through their treating gynecologic oncologists.

Medical records and tumor tissue have been reviewed. Genetic counseling was provided and DNA testing was performed through full sequencing and evaluation for the 5 common large genomic rearrangements.

Results are currently available on 164 of these women. Of the first 164 women enrolled in the study, 22 (13.4%) had mutations in BRCA1 or BRCA2: 12 in BRCA1 (7.3% of cases) and 10 in BRCA2 (6.1%). All BRCA1- and BRCA2- associated ovarian cancers were ER-/PR- and ER+/PR+ respectively.

Of the BRCA2 mutations, 40% were outside the OCCR region.

Most of the tumors had serous histology, and none were mucinous or borderline tumors. The percentages having a positive family history of breast and/or ovarian cancer in a first of second degree relative for BRCA1 carriers (n=12), BRCA2 carriers (n=10), and women with sporadic ovarian cancer (n=142) were 60%, 40% and 30% respectively.

The average ages of diagnosis for these 3 groups of women were 54, 59, and 59 respectively.

These data suggest that 1) the frequency of BRCA1 and BRCA2 mutations among invasive ovarian cancer cases may be higher than previously reported; 2) previous studies may have underestimated the contribution of BRCA2 to ovarian cancer, especially mutations outside the ovarian cancer cluster region (OCCR); 3) it may be reasonable to offer any woman with an invasive non-mucinous ovarian tumor genetic counseling (up to 15-16% risk in this group); and 4) family history may not be sufficient to accurately predict mutations.

Frontiers in Cancer Prevention Research, 2003 AACR

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