PDF(Pubmed)
Abstract：
Germline pathogenic variants (GPVs) in the cancer predisposition genes BRCA1, BRCA2, MLH1, MSH2, MSH6, BRIP1, PALB2, RAD51D and RAD51C are identified in approximately 15% of patients with ovarian cancer (OC). While there are clear guidelines around clinical management of cancer risk in patients with GPV in BRCA1, BRCA2, MLH1, MSH2 and MSH6, there are few guidelines on how to manage the more moderate OC risk in patients with GPV in BRIP1, PALB2, RAD51D and RAD51C, with clinical questions about appropriateness and timing of risk-reducing gynaecological surgery. Furthermore, while recognition of RAD51C and RAD51D as OC predisposition genes has been established for several years, an association with breast cancer (BC) has only more recently been described and clinical management of this risk has been unclear. With expansion of genetic testing of these genes to all patients with non-mucinous OC, new data on BC risk and improved estimates of OC risk, the UK Cancer Genetics Group and CanGene-CanVar project convened a 2-day meeting to reach a national consensus on clinical management of BRIP1, PALB2, RAD51D and RAD51C carriers in clinical practice. In this paper, we present a summary of the processes used to reach and agree on a consensus, as well as the key recommendations from the meeting.
摘要：
在大约15％的卵巢癌（OC）患者中鉴定出癌症易感性基因BRCA1，BRCA2，MLH1，MSH2，MSH6，BRIP1，PALB2，RAD51D和RAD51C中的种系致病变体（GPV）。虽然关于BRCA1，BRCA2，MLH1，MSH2和MSH6中GPV患者的癌症风险的临床管理有明确的指南，但关于如何管理BRIP1，PALB2，RAD51D和RAD51C中GPV患者的更中度OC风险的指南很少。关于降低风险的妇科手术的适当性和时机的临床问题。此外，虽然RAD51C和RAD51D作为OC易感性基因的识别已经建立了几年，乳腺癌(BC)与乳腺癌(BC)的相关性最近才被描述,而对该风险的临床管理尚不清楚.随着这些基因的基因检测扩展到所有非黏液性OC患者，关于BC风险的新数据和改进的OC风险估计，英国癌症遗传学小组和CanGene-CanVar项目召开了为期2天的会议,就临床实践中BRIP1,PALB2,RAD51D和RAD51C携带者的临床管理达成全国共识.在本文中,我们总结了达成和商定共识的过程，以及会议的主要建议。
