Concordance of BRCA mutation detection in tumor versus blood, and frequency of bi-allelic loss of BRCA in tumors from patients in the phase III SOLO2 trial

Gynecologic Oncology(2021)

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摘要
•There are limited data on the concordance between tumor BRCA (tBRCA) and germline BRCA (gBRCA) testing in ovarian cancer.•In SOLO2, concordance between tBRCA and gBRCA testing was very high (98%) in gBRCA-mutated patients.•Large insertions or deletions accounted for only a small subset (5%) of gBRCA mutations.•The near 100% rate of bi-allelic loss of BRCA suggests that routine testing for BRCA zygosity is not required.•Results are in keeping with BRCA loss being a driver of tumorigenesis in ovarian cancer.
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关键词
Olaparib,Ovarian cancer,Mutation detection methods,LOH and marker studies
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