Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality.
Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality.
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DOI：
10.1001/jama.2010.1237
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发表时间：
2010-09-01
影响因子：
120.7
通讯作者：
Rebbeck, Timothy R.
中科院分区：
文献类型：
--
作者：
Domchek, Susan M.;Friebel, Tara M.;Singer, Christian F.;Evans, D. Gareth;Lynch, Henry T.;Isaacs, Claudine;Garber, Judy E.;Neuhausen, Susan L.;Matloff, Ellen;Eeles, Rosalind;Pichert, Gabriella;Van T'veer, Laura;Tung, Nadine;Weitzel, Jeffrey N.;Couch, Fergus J.;Rubinstein, Wendy S.;Ganz, Patricia A.;Daly, Mary B.;Olopade, Olufunmilayo I.;Tomlinson, Gail;Schildkraut, Joellen;Blum, Joanne L.;Rebbeck, Timothy R.
降低风险乳房切除术（RRM）和输卵管卵巢切除术（RRSO）被BRCA 1或BRCA 2突变携带者广泛使用，以降低其患乳腺癌和卵巢癌的风险。评估按突变和既往癌症状态分层的风险和死亡率降低。一项前瞻性多中心队列研究被用来评估RRM和RRSO对癌症结局的关系。在欧洲和北美有22个临床和研究遗传学中心。在1974年至2008年期间，有2，482名女性被确定为BRCA 1或BRCA 2突变阳性，并一直跟踪到2009年底。257例（10%）接受了RRM，993例（40%）接受了RRSO。乳腺癌和卵巢癌风险;癌症特异性和总体死亡率。在患有RRM的女性中没有诊断出乳腺癌，而没有RRM的女性中有7%。在接受RRSO的女性中，1.1%随后被诊断为卵巢癌，11.4%随后被诊断为乳腺癌，3%随后死于任何原因，而未接受RRSO的女性中卵巢癌为5.8%，乳腺癌为19.2%，总死亡率为10%。RRSO与卵巢癌的低风险相关，（风险比（HR）0.31，95% CI 0.12-0.82）和既往无乳腺癌（HR 0.15，0.04-0.63），BRCA 1（HR 0.63，0.41-0.96）和BRCA 2（HR 0.36，0.16-0.82）突变携带者的首次乳腺癌风险较低。RRSO与全因（HR 0.40，0.26-0.61）、乳腺癌特异性（HR 0.44，0.26-0.76）和卵巢癌特异性（HR 0.25，0.08-0.75）死亡率降低相关。在BRCA 1和BRCA 2突变的女性队列中，使用RRM与乳腺癌风险降低相关，RRSO与卵巢癌、首次乳腺癌以及总体乳腺癌和卵巢癌特异性死亡率降低相关。
Risk-reducing mastectomy (RRM) and salpingo-oophorectomy (RRSO) are widely used by carriers of BRCA1 or BRCA2 mutations to reduce their risks of breast and ovarian cancer. To estimate risk and mortality reduction stratified by mutation and prior cancer status. A prospective multi-center cohort study was used to assess the relationship of RRM and RRSO on cancer outcomes. Twenty-two clinical and research genetics centers in Europe and North America. 2,482 women identified 1974-2008 and followed until the end of 2009 who tested positive for BRCA1 or BRCA2 mutations. 257 (10%) underwent RRM and 993 (40%) underwent RRSO. Breast and ovarian cancer risk; cancer-specific and overall mortality. No breast cancers were diagnosed in women with RRM compared to 7% of women without RRM. In women who underwent RRSO, 1.1% were subsequently diagnosed with ovarian cancer, 11.4% were subsequently diagnosed with breast cancer, and 3% subsequently died from any cause, compared with 5.8% ovarian cancer, 19.2% breast cancer, and 10% overall mortality in women who did not undergo RRSO. RRSO was associated with a lower risk of ovarian cancer in those with (Hazard Ratio (HR) 0.31, 95% CI 0.12-0.82) and without a prior breast cancer (HR 0.15, 0.04-0.63), and a lower risk of first breast cancer in both BRCA1 (HR 0.63, 0.41-0.96) and BRCA2 (HR 0.36, 0.16-0.82) mutation carriers. RRSO was associated with a reduction in all-cause (HR 0.40, 0.26-0.61), breast cancer-specific (HR 0.44, 0.26-0.76), and ovarian cancer-specific (HR 0.25, 0.08-0.75) mortality. Among a cohort of women with BRCA1 and BRCA2 mutations, the use of RRM was associated with a lower risk of breast cancer, and RRSO was associated with a lower risk of ovarian cancer, first breast cancer, and overall, breast-, and ovarian-cancer specific mortality.
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影响因子：
158.5
作者：
Meijers-Heijboer, H;van Geel, B;Klijn, JGM
通讯作者：
Klijn, JGM
影响因子：
45.3
作者：
Rebbeck, TR;Friebel, T;Weber, BL
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45.3
作者：
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Abeloff, MD
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45.3
作者：
Pierce, LJ;Levin, AM;Weber, BL
通讯作者：
Weber, BL