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Genetic testing and results in a population-based cohort of breast cancer patients and ovarian cancer patients

Journal of Clinical Oncology May 22, 2019

Kurian AW, et al. - Using SEER data, researchers assessed clinical genetic testing and outcomes among population-based patients (women 20 years of age or older) with breast (n=77,085) and ovarian cancer (n=6,001) in California and Georgia. Lower testing was reported in blacks and uninsured patients among those with ovarian cancer. In breast cancer cases, the pathogenic variants BRCA1 (3.2%), BRCA2 (3.1%), CHEK 2 (1.6%), PALB2 (1.0%), ATM (0.7%), and NBN (0.4%) were prevalent. In ovarian cancer cases, BRCA1 (8.7%), BRCA2 (5.8%), CHEK2 (1.4%), BRIP1 (0.9%), MSH2 (0.8%), and ATM (0.6%) were identified as the prevalent pathogenic variants. Overall, 8% to 15% prevalence of actionable pathogenic variants was reported in clinically-tested breast and ovarian cancer patients in two large, diverse states. Targets for improvement include substantial testing gaps and differences among patients with ovarian cancer.

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