Abstract：
A hereditary breast and ovarian cancer (HBOC) pedigree was detected via liquid biopsy, and cancer prevention was initiated for the patient\'s daughter, after receiving a definitive result from BRCA genetic testing. A 48-yearold woman with ovarian cancer was administered precision medicine, which used cell-free DNA from plasma. The results revealed a pathogenic variant of BRCA1 as a presumed germline pathogenic mutation. We confirmed the germline pathological variant BRCA1 c.81-1G> A and suggested treatment with a PARP inhibitor. One of her three children had the variant, was diagnosed as an unaffected pathogenic variant carrier, and was advised to initiate surveillance.
摘要：
通过液体活检检测到遗传性乳腺癌和卵巢癌（HBOC）家系，癌症预防是为病人的女儿开始的，在收到BRCA基因检测的明确结果后。一名48岁的卵巢癌患者接受了精准医疗，使用血浆中的无细胞DNA。结果表明，BRCA1的致病变体是假定的种系致病突变。我们证实了种系病理变异BRCA1c.81-1G>A，并建议用PARP抑制剂治疗。她的三个孩子中有一个有变种，被诊断为未受影响的致病变异携带者，并被建议开始监视。
