Germ-line BRCA1/2 testing recommended in ovarian cancer

June 19, 2012
Germ-Line <i>BRCA1/2</i> testing recommended in ovarian cancer
Due to the potential survival and treatment response implications of BRCA mutation status, it is recommended that germ-line BRCA1/2 testing be offered to all women diagnosed with nonmucinous ovarian carcinoma, regardless of family history, according to research published online June 18 in the Journal of Clinical Oncology.

(HealthDay) -- Due to the potential survival and treatment response implications of BRCA mutation status, it is recommended that germ-line BRCA1/2 testing be offered to all women diagnosed with nonmucinous ovarian carcinoma, regardless of family history, according to research published online June 18 in the Journal of Clinical Oncology.

To investigate the impact of germ-line BRCA1 and BRCA2 mutations in ovarian cancer, Kathryn Alsop, of the Peter MacCallum Cancer Centre in East Melbourne, Australia, and colleagues screened 1,001 women with nonmucinous ovarian carcinomas enrolled in a case-control study for germ-line point mutations and large deletions in BRCA1 and BRCA2 genes.

The researchers found that 14.1 percent of patients exhibited BRCA1/2 germ-line mutations. Of these, 16.6 percent had serous cancer and 44 percent reported no family history of either breast or ovarian cancer. Compared with women without germ-line mutations, patients with germ-line mutations had improved rates of progression-free and overall survival and tended to respond to platin and nonplatin-based regimens in the relapse setting. Somatic BRCA1/2 mutations were more likely to be found in mutation-negative patients who responded to multiple cycles of platin-based treatment.

"Our findings suggest changes in the guidelines for genetic testing of all invasive ovarian cancer patients, indicate that the measurement of BRCA status should be explicitly integrated into future clinical trial designs as a major stratification factor, and declare BRCA status is now ready to be included in the of women with ," the authors write.

Explore further: BRCA2 genetic mutation associated with improved survival, chemotherapy response in ovarian cancer

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