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Tampa Study: BRCA1/2 Mutations and Ovarian Cancer

by Sue Friedman

Identifying women with a BRCA mutation who are diagnosed with ovarian cancer may lead to more options for detecting and preventing cancer in their relatives. To better understand hereditary ovarian cancer, the Tampa Bay Ovarian Cancer Study (TBOCS) set out to determine the percentage of ovarian cancer patients with BRCA mutations, and what types of the disease are more common in women with these mutations.

The TBOCS found BRCA mutations may account for more cases of invasive ovarian cancer than previously thought. When researchers at H. Lee Moffitt Cancer Center and gynecologic specialists from the Tampa Bay area genetically tested 209 women with invasive ovarian cancer, they found approximately 14% had a BRCA mutation. The majority of women with BRCA mutations had serous ovarian cancer. The study also found that some types of ovarian cancer—borderline or invasive mucinous tumors—were unlikely to be caused by a BRCA mutation.

Because genetic test results may impact screening and prevention for breast and ovarian cancer for patients and their relatives, and based on the relatively high percentage of ovarian cancer associated with BRCA mutations, it is prudent for women with invasive ovarian cancer to see a genetic counselor. (Medicare now covers the cost of genetic counseling and testing for eligible women with ovarian cancer.) Since a significant portion of women who tested positive for a mutation had no family members with breast or ovarian cancer, family history alone may not accurately determine which ovarian cancer patients carry a BRCA mutation.

References

T Pal, J Permuth-Wey, J Betts, J Krischer, J Fiorica, H Arango, J LaPolla, M Hoffman, M. Martino, K Wakeley, G Wilbanks, S Nicosia, A Cantor, R Sutphen. BRCA1 and BRCA2 Mutations Account For A Large Proportion Of Ovarian Carcinoma Cases. Cancer, November 2005; vol. 104, no. 12: p. 2807-2816.

L Smith, C Morris, S Yasmeen, A Parikh-Patel, R Cress, P Romano. Ovarian Cancer: Can We Make The Clinical Diagnosis Earlier? Cancer, August 2005; vol. 104, no. 7: p. 1398-1407.

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