Low Rates Of Brca1 And Brca2 Testing For Patients With Ovarian Cancer In Asco'S Cancerlinq, A Real-World Database.

JOURNAL OF CLINICAL ONCOLOGY(2020)

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摘要
6041 Background: Ovarian cancer is the deadliest gynecological cancer and has limited screening options for early stage diagnosis. Genetic mutations in genes such as BRCA1 and BRCA2 increase the risk of ovarian cancer, and if identified, patients can undergo risk-reducing surgery. It is recommended and well accepted to test any new ovarian cancer patient for genetic mutations, particulary BRCA1 and BRCA2. If a BRCA1/2 mutation is found in a patient (somatic or germ line), this information can be used to guide therapy. We sought to analyze the characteristics of genetic testing in a real-world database, ASCO’s CancerLinQ. Methods: We performed a retrospective cohort study using the CancerLinQ Discovery database. Women with ovarian, fallopian tube, or primary peritoneal cancer were identified using ICD9 and ICD10 codes. We included patients diagnosed between 1/1/11 to 12/31/18 and age >18. We included all epithelial histologies including carcinosarcomas and excluded patients without a known histology. Results: Of the 2654 patients meeting inclusion criteria, 600 had been tested for a BRCA1/2 mutation (22.6%). Of those tested, 63% were stage III/IV, 14% stage I/II, and 21.8% an unknown stage. The majority of the histologies were serous (76%), followed by undifferentiated (21.2%). The majority of patients tested were white (69.9%), with 18.8% unknown, and 9.9% black. The rate of a positive BRCA1 or BRCA2 mutation in this population was 17.2%. Of the patients with a BRCA1/2 mutation, the majority had serous histology (87%), followed by 18.5% undifferentiated, and 3.9% transitional cell. The majority of the patients found to have a BRCA1/2 mutation were age >50 (57.3%). Conclusions: Since 2008 evidence-based guidelines have recommended that all ovarian cancer patients be tested for BRCA1 and BRCA2 mutations, but in this real-world database only 22.6% have a recorded test. Of those tested, we found a BRCA1 or BRCA2 mutation rate of 17.2%. Our data is limited by what is recorded in the database and may not represent the true number of patients tested because of data missing from the EHR; however, these percentages appear similar to previous studies. Not only is testing important for cancer prevention for family members of patients, it now impacts the type of treatments for which these patients are eligible. Since genetic testing remains low at only 22.6% in this population, significant opportunities exist to impact cancer prevention and treatment.
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