Department of Obstetrics and Gynecology, University of Virginia Health System, Charlottesville, Virginia.
Clin Obstet Gynecol. 2024 Dec 1;67(4):696-701. doi: 10.1097/GRF.0000000000000897. Epub 2024 Sep 26.
Hereditary cancer syndromes associated with gynecologic malignancies account for up to 18% of all cases of ovarian, uterine, and cervical cancers, and identification of these syndromes has implications for cancer screening and risk reduction techniques in affected patients. The associated cancer risks with moderate-penetrance genes are rapidly evolving and present variable risks for the provider counseling the patient. In this review, we detail the cancer risk and management of patients with germline PV in the moderate-risk hereditary cancer genes ATM , BRIP1 , RAD51C , RAD51D , and PALB2 .
与妇科恶性肿瘤相关的遗传性癌症综合征占卵巢癌、子宫癌和宫颈癌所有病例的 18%,识别这些综合征对受影响患者的癌症筛查和降低风险技术具有重要意义。中度外显率基因的相关癌症风险正在迅速演变,并为向患者提供咨询的医生带来不同的风险。在这篇综述中,我们详细介绍了具有中度风险的遗传性癌症基因 ATM 、 BRIP1 、 RAD51C 、 RAD51D 和 PALB2 中种系 PV 的癌症风险和管理。