Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer.
Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer.
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BRCA1和BRCA2突变之间的关联以及侵入性上皮卵巢癌女性的生存。
DOI：
10.1001/jama.2012.20
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发表时间：
2012-01-25
影响因子：
120.7
通讯作者：
Pharoah, Paul D. P.
中科院分区：
文献类型：
--
作者：
Bolton, Kelly L.;Chenevix-Trench, Georgia;Goh, Cindy;Sadetzki, Siegal;Ramus, Susan J.;Karlan, Beth Y.;Lambrechts, Diether;Despierre, Evelyn;Barrowdale, Daniel;McGuffog, Lesley;Healey, Sue;Easton, Douglas F.;Sinilnikova, Olga;Benitez, Javier;Garcia, Maria J.;Neuhausen, Susan;Gail, Mitchell H.;Hartge, Patricia;Peock, Susan;Frost, Debra;Evans, Gareth;Eeles, Rosalind;Godwin, Andrew K.;Daly, Mary B.;Kwong, Ava;Ma, Edmond S. K.;Lazaro, Conxi;Blanco, Ignacio;Montagna, Marco;D'Andrea, Emma;Nicoletto, Maria Ornella;Johnatty, Sharon E.;Krueger, Susanne;Jensen, Allan;Hogdall, Estrid;Goode, Ellen L.;Fridley, Brooke L.;Loud, Jennifer T.;Greene, Mark H.;Mai, Phuong L.;Chetrit, Angela;Lubin, Flora;Hirsh-Yechezkel, Galit;Glendon, Gord;Andrulis, Irene L.;Toland, Amanda E.;Senter, Leigha;Gore, Martin E.;Gourley, Charlie;Michie, Caroline O.;Song, Honglin;Tyrer, Jonathan;Whittemore, Alice S.;McGuire, Valerie;Sieh, Weiva;Kristoffersson, Ulf;Olsson, Hakan;Borg, Ake;Levine, Douglas A.;Steele, Linda;Beattie, Mary S.;Chan, Salina;Nussbaum, Robert L.;Moysich, Kirsten B.;Gross, Jenny;Cass, Ilana;Walsh, Christine;Li, Andrew J.;Leuchter, Ronald;Gordon, Ora;Garcia-Closas, Montserrat;Gayther, Simon A.;Chanock, Stephen J.;Antoniou, Antonis C.;Pharoah, Paul D. P.
大约10%的侵袭性上皮性卵巢癌（EOC）患者携带BRCA 1或BRCA 2的有害生殖系突变。最近的一份报告表明，BRCA 2相关的EOC与预后改善有关，但BRCA 1的影响仍不清楚。描述BRCA携带者与非携带者相比的EOC生存率，并确定BRCA 1和BRCA 2携带者是否显示相似的生存模式。我们汇总了26项关于卵巢癌患者生存率的研究数据。这包括1，213例在BRCA 1（909）或BRCA 2（304）中具有致病性生殖系突变的EOC病例的数据，以及1987年至2010年间招募并随访不同时间的2，666名非携带者;诊断的中位年份为1998年。5年总死亡率。非携带者的五年总生存率为36%（95% CI：34-38），BRCA 1携带者为44%（95% CI：40-48），BRCA 2携带者为52%（95% CI：46-58）。在调整研究和诊断年份后，BRCA 1和BRCA 2携带者的生存率高于非携带者（BRCA 1，HR=0.78; 95% CI=0.68-0.89，P=2×10−4; BRCA 2，HR = 0.61; 95% CI=0.50-0.76，P=6×10−6）。在对分期、分级、组织学和诊断时的年龄进行额外调整后，这些生存差异仍然存在（BRCA 1，HR=0.73，95% CI=0.64-0.84，P=2×10−5; BRCA 2，HR = 0.49，95% CI=0.39-0.61，P=3×10−10）。在浸润性上皮性卵巢癌患者中，BRCA 1或BRCA 2的生殖系突变与5年总生存率的改善相关。
Approximately 10 percent of women with invasive epithelial ovarian cancer (EOC) carry deleterious germline mutations in BRCA1 or BRCA2. A recent report suggested that BRCA2 related EOC was associated with an improved prognosis, but the effect of BRCA1 remains unclear. To characterize the survival of BRCA carriers with EOC compared to non-carriers and to determine whether BRCA1 and BRCA2 carriers show similar survival patterns. We pooled data from 26 studies on the survival of women with ovarian cancer. This included data on 1,213 EOC cases with pathogenic germline mutations in BRCA1 (909) or BRCA2 (304) and 2,666 non-carriers recruited and followed for variable times between 1987 and 2010; the median year of diagnosis was 1998. Five year overall mortality. The five-year overall survival was 36 percent (95% CI: 34–38) for non-carriers, 44 percent (95% CI: 40–48) for BRCA1 carriers and 52 percent (95% CI: 46–58) for BRCA2 carriers. After adjusting for study and year of diagnosis, BRCA1 and BRCA2 carriers showed a more favorable survival than non-carriers (BRCA1, HR=0.78; 95% CI=0.68–0.89, P=2×10−4; BRCA2, HR = 0.61; 95% CI=0.50–0.76, P=6×10−6). These survival differences remained after additional adjustment for stage, grade, histology and age at diagnosis (BRCA1, HR=0.73, 95% CI=0.64–0.84, P=2×10−5; BRCA2, HR = 0.49, 95% CI=0.39–0.61, P=3×10−10). Among patients with invasive epithelial ovarian cancer, having a germline mutation in BRCA1 or BRCA2 was associated with improved 5-year overall survival.
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影响因子：
45.3
作者：
Fong, Peter C.;Yap, Timothy A.;Kaye, Stan B.
通讯作者：
Kaye, Stan B.
影响因子：
11.5
作者：
Lakhani, SR;Manek, S;Easton, DF
通讯作者：
Easton, DF
影响因子：
8.8
作者：
Pearce, C. L.;Wu, A. H.;Berchuck, A.
通讯作者：
Berchuck, A.
影响因子：
2.2
作者：
Foulkes, William D.
通讯作者：
Foulkes, William D.
影响因子：
10.3
作者：
Lakhani, SR;Jacquemier, J;Easton, DF
通讯作者：
Easton, DF