Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer.
Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer.
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DOI：
10.1038/sj.bjc.6603929
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发表时间：
2007-09-17
影响因子：
8.8
通讯作者：
Stanford, J. L.
中科院分区：
文献类型：
--
作者：
Agalliu, I.;Karlins, E.;Kwon, E. M.;Iwasaki, L. M.;Diamond, A.;Ostrander, E. A.;Stanford, J. L.
对分离 BRCA2 突变的家庭的研究发现，携带疾病相关突变的男性患前列腺癌的风险增加，尤其是早发性疾病。英国一项针对散发性前列腺癌的研究报告称，在 55 岁以下诊断的患者中，蛋白质截短 BRCA2 突变的患病率为 2.3%，强调了该基因在前列腺癌易感性中的潜在重要性。为了研究蛋白质截短 BRCA2 突变与美国人群中早发性前列腺癌的关系，对来自华盛顿州金县的 290 名年龄 <55 岁被诊断出的患者进行了种系 BRCA2 突变筛查。对 BRCA2 基因的编码区、内含子-外显子边界和潜在调控元件进行了测序。在两名患者的外显子 11 中发现了两种不同的蛋白质截短 BRCA2 突变。两个病例均为白种人，携带蛋白质截短 BRCA2 突变的白人男性早发性前列腺癌的突变患病率为 0.78%（95% 置信区间 (95%CI) 0.09–2.81%），相对风险 (RR) 为 7.8 (95%CI 1.8–9.4)。结果表明，蛋白质截短的 BRCA2 突变导致早发性前列腺癌的 RR 升高。然而，我们估计美国白种人群体中 <1% 的早发性前列腺癌可归因于这些罕见疾病相关的 BRCA2 突变。
Studies of families who segregate BRCA2 mutations have found that men who carry disease-associated mutations have an increased risk of prostate cancer, particularly early-onset disease. A study of sporadic prostate cancer in the UK reported a prevalence of 2.3% for protein-truncating BRCA2 mutations among patients diagnosed at ages ⩽55 years, highlighting the potential importance of this gene in prostate cancer susceptibility. To examine the role of protein-truncating BRCA2 mutations in relation to early-onset prostate cancer in a US population, 290 population-based patients from King County, Washington, diagnosed at ages <55 years were screened for germline BRCA2 mutations. The coding regions, intron–exon boundaries, and potential regulatory elements of the BRCA2 gene were sequenced. Two distinct protein-truncating BRCA2 mutations were identified in exon 11 in two patients. Both cases were Caucasian, yielding a mutation prevalence of 0.78% (95% confidence interval (95%CI) 0.09–2.81%) and a relative risk (RR) of 7.8 (95%CI 1.8–9.4) for early-onset prostate cancer in white men carrying a protein-truncating BRCA2 mutation. Results suggest that protein-truncating BRCA2 mutations confer an elevated RR of early-onset prostate cancer. However, we estimate that <1% of early-onset prostate cancers in the general US Caucasian population can be attributed to these rare disease-associated BRCA2 mutations.
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影响因子：
9.8
作者：
Edwards, SM;Kote-Jarai, Z;Eeles, RA
通讯作者：
Eeles, RA
影响因子：
10.3
作者：
Risch, Harvey A.;McLaughlin, John R.;Narod, Steven A.
通讯作者：
Narod, Steven A.
影响因子：
16
作者：
Davies, AA;Masson, JY;West, SC
通讯作者：
West, SC
影响因子：
14.9
作者：
Nickerson, DA;Tobe, VO;Taylor, SL
通讯作者：
Taylor, SL
DOI：
10.1093/jnci/91.11.943
发表时间：
1999-06-02
期刊：
JOURNAL OF THE NATIONAL CANCER INSTITUTE
影响因子：
--
作者：
Peto, J;Collins, N;Stratton, MR
通讯作者：
Stratton, MR