Pilarski Robert
1 Division of Human Genetics and Comprehensive Cancer Center, The Ohio State University, Columbus, OH.
Am Soc Clin Oncol Educ Book. 2019 Jan;39:79-86. doi: 10.1200/EDBK_238977. Epub 2019 May 17.
Beyond breast and ovarian cancers, mutations in the and genes increase risks for pancreatic and prostate cancers and contribute to the prevalence of these cancers. Mutations in a number of other genes have also been shown to increase the risk for these cancers as well. Genetic testing is playing an increasingly important role in the treatment of patients with pancreatic and prostate cancer and is now recommended for all patients with pancreatic or metastatic prostate cancer, as well as patients with high Gleason grade prostate cancer and a remarkable family history. Identification of an inherited mutation can direct evaluation of the patient for other cancer risks as well as identification and management of disease in at-risk relatives. Growing evidence suggests improved responses to PARP inhibitors and other therapies in patients with mutations in the and other DNA repair genes. Although more work must be done to clarify the prevalence and penetrance of mutations in genes other than and in patients with pancreatic and prostate cancer, in most cases, testing is now being done with a panel of multiple genes. Because of the complexities in panel testing and the increased likelihood of finding variants of uncertain significance, pre- and post-test genetic counseling are essential.
除乳腺癌和卵巢癌外，BRCA1和BRCA2基因的突变会增加患胰腺癌和前列腺癌的风险，并导致这些癌症的流行。其他一些基因的突变也已被证明会增加患这些癌症的风险。基因检测在胰腺癌和前列腺癌患者的治疗中发挥着越来越重要的作用，现在推荐所有胰腺癌或转移性前列腺癌患者、高 Gleason 分级前列腺癌患者以及有明显家族病史的患者进行检测。识别遗传性突变可以指导对患者进行其他癌症风险评估，以及对有风险的亲属进行疾病识别和管理。越来越多的证据表明，携带BRCA1和其他DNA修复基因突变的患者对PARP抑制剂和其他疗法的反应有所改善。尽管还需要更多工作来阐明胰腺癌和前列腺癌患者中除BRCA1和BRCA2之外其他基因的突变发生率和外显率，但在大多数情况下，现在是通过一组多个基因进行检测。由于基因检测组合的复杂性以及发现意义不确定变异的可能性增加，检测前和检测后的遗传咨询至关重要。
