講演情報
[P26-12]Secondary findings using comprehensive genome profiling especially in metastatic castration-resistant prostate cancer
○奥川 喜永1,2, 今井 裕1, 橋詰 令太郎1, 望木 郁代1, 中村 麻姫1, 池尻 誠1, 北嶋 貴仁1,2, 藤原 拓海1, 中谷 中1 (1.三重大学・ゲノム診療科, 2.三重大学大学院・消化管・小児外科学)
Background. Olaparib was approved in patients with metastatic castration-resistant prostate cancer(mCRPC) harboring BRCA1/2 alteration by Japanese insurance, and comprehensive genomic profiling(CGP) is extremely expanded. However, previous studies showed that half of the BRCA1/2 alteration in mCRPC was originated from germline variants, and its frequency remains unclear in Japan.Methods. We evaluated 504 patients received insurance-approved CGP using FoundationOne CDx, FoundationOne Liquid CDx, or NCC Oncoguide in our institute. Results. Patients received FoundationOne CDx(n=349), FoundationOne Liquid CDx (n=88), and NCC Oncoguide (n=67), respectively. Thirty patients didn’t want to know the results of secondary findings, and 4 patients deceased before explaining the results. From 487 patients, 27 patients got genetic counseling(GC), and 12 patients finally confirmed germline pathogenic variants(APC, MLH1, BRCA1/2, RB1, TP53, NF1). Especially in mCRPC, 54 patients received CGP tests, and they received FoundationOne CDx(n=27) or FoundationOne Liquid CDx(n=27). Eleven patients detected BRCA1/2 pathogenic variants, and 6 patients disclosed presumed pathogenic germline variants of BRCA1/2. Five patients presented to GC and all patients received genetic test. Finally, 4 patients(7.4%) confirmed germline BRCA2 variants, and one first-degree relative confirmed germline pathogenic variants.Conclusion. Japanese mCRPC patients also included population carrying BRCA1/2 germline mutations with relatively high rate, and need to provide clinical approach for hereditary cancer.