医学
癌症
恶性肿瘤
活检
肿瘤科
前列腺癌
内科学
乳腺癌
体细胞
队列
BRCA突变
妇科
基因
生物
生物化学
作者
Cian O’Leary,Edward Yoong,Admire Matsika,Niara Oliveira
摘要
ABSTRACT Aims Castrate‐resistant prostate cancer (CRPC) is a common malignancy with poor prognostic outcomes. Breast cancer (BRCA ) genes 1 and 2 mutations occur in prostate cancers and confer poorer prognoses. Somatic BRCA testing can lead to inconclusive results, which can gatekeep patients from accessing targeted medications. We assessed the somatic BRCA testing results among our cohort of CRPC patients for factors contributing to quality control (QC) failures and inconclusive testing. Methods We performed a retrospective review of the records of all patients with CRPC attending our cancer care centers from 2020 to 2023. We identified the presence/absence of somatic BRCA testing results on their record. For those with returned results, we collected key information including biopsy characteristics, time from biopsy to BRCA result, and outcome of BRCA testing. Results A total of 147 patients with CRPC attended our service between January 2020 and 2023. A total of 54 patients (40%) had somatic BRCA testing performed on a tumor biopsy sample. A total of 35 somatic tests (65%) returned an actionable (positive or negative) result. The remaining 19 (35%) returned as inconclusive/QC failures. QC failures were significantly associated with a greater time from initial biopsy to somatic testing result (60 vs. 27 months, p = 0.033). The type of tissue biopsied, tumor percentage in biopsy sample, tissue sampling method, and sampling hospital did not contribute significantly to QC failure. Conclusions A longer tissue retention interval from biopsy to somatic BRCA testing is associated with a greater risk of inconclusive test results. We recommend a repeat biopsy for BRCA testing in CRPC patients where archival tissue is older than 5 years.
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