Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening
Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening
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DOI：
10.1093/annonc/mdw327
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发表时间：
2016-09-01
影响因子：
50.5
通讯作者：
Senkus, E.
中科院分区：
文献类型：
--
作者：
Paluch-Shimon, S.;Cardoso, F.;Senkus, E.
该指南将重点关注已知携带致病性BRCA 1/2突变的个体的癌症预防和筛查。乳腺癌和卵巢癌的遗传易感性也可能与其他基因的突变有关，其中一些基因与已知的遗传性癌症综合征有关，如p53，PTEN，CDH 1，STK 11，MLH 1，MSH 2，MSH 6和PMS 2。与其他基因（如PALB 2、CHEK 2、ATM、RAD 51 C、RAD 51 D和BRIP 1）的癌症风险相关性仍在研究或临床验证中。这些突变的预防和筛查策略概述见表1。
The guidelines will focus on cancer prevention and screening among individuals known to harbour a pathogenic BRCA1/2 mutation. The presence of a BRCA1 or BRCA2 mutation accounts for the majority of hereditary breast and ovarian cancer syndromes.Genetic susceptibility to breast or ovarian cancer might also be associated with mutations in other genes, some of which are associated with known hereditary cancer syndromes, such as p53, PTEN, CDH1, STK11, MLH1, MSH2, MSH6 and PMS2. The cancer risk association with other genes, such as PALB2, CHEK2, ATM, RAD51C, RAD51D and BRIP1, is still under research or clinical validation. An overview of prevention and screening strategies for these mutations is summarised in Table 1.