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Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families.以色列德系犹太人中BRCA1和BRCA2基因的始祖突变：卵巢癌及卵巢癌-乳腺癌家族中的突变频率及差异外显率
Am J Hum Genet. 1997 May;60(5):1059-67.
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The 1100delAT BRCA1 and the 8765delAG BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews and haplotype comparison of Jewish and non-Jewish carriers.1100delAT BRCA1和8765delAG BRCA2突变：在高危非阿什肯纳兹犹太人中的发生情况以及犹太和非犹太携带者的单倍型比较
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Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.非 BRCA1 和 BRCA2 种系突变导致的阿什肯纳兹犹太裔妇女乳腺癌遗传易感性。
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BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts.在高危胰腺癌筛查队列和胰腺癌队列中，经常能检测到BRCA1和BRCA2种系突变。
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Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas.与遗传性乳腺癌/卵巢癌相关的罕见肿瘤中奠基者突变的分析揭示了BRCA2突变与壶腹癌的新关联。
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本文引用的文献

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Cancer statistics, 2005.2005年癌症统计数据。
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2
Breast carcinoma in men: a population-based study.男性乳腺癌：一项基于人群的研究。
Cancer. 2004 Jul 1;101(1):51-7. doi: 10.1002/cncr.20312.
3
Spectrum of mutations in BRCA1 gene in hereditary forms of breast and ovarian cancer in Russian families.俄罗斯家族遗传性乳腺癌和卵巢癌中BRCA1基因的突变谱
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Some epidemiological features of breast cancer among males.男性乳腺癌的一些流行病学特征。
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Some observations on the epidemiology of breast cancer among males.关于男性乳腺癌流行病学的一些观察
Am J Public Health Nations Health. 1963 Jun;53(6):890-7. doi: 10.2105/ajph.53.6.890.
6
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.在未根据家族史进行选择的病例系列中检测到的与BRCA1或BRCA2基因突变相关的乳腺癌和卵巢癌平均风险：22项研究的综合分析
Am J Hum Genet. 2003 May;72(5):1117-30. doi: 10.1086/375033. Epub 2003 Apr 3.
7
BRCA1 and BRCA2 mutation status and tumor characteristics in male breast cancer: a population-based study in Italy.男性乳腺癌中BRCA1和BRCA2突变状态及肿瘤特征：意大利一项基于人群的研究
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8
Male breast carcinoma in Israel: higher incident but possibly prognosis in Ashkenazi Jews.以色列男性乳腺癌：发病率较高，但在阿什肯纳兹犹太人中预后可能较好。 （你提供的原文可能有误，根据语境推测完整意思可能是这样翻译，原句“higher incident but possibly prognosis”表述不太准确）
Cancer. 2002 Apr 15;94(8):2128-33. doi: 10.1002/cncr.10449.
9
Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals.携带BRCA1和BRCA2基因种系突变个体的临床特征：对10000名个体的分析
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10
BRCA1 and BRCA2 mutations in a population-based study of male breast cancer.基于人群的男性乳腺癌研究中的BRCA1和BRCA2突变
Breast Cancer Res. 2002;4(1):R2. doi: 10.1186/bcr419. Epub 2001 Nov 21.

阿什肯纳兹和非阿什肯纳兹乳腺癌男性中始祖BRCA1和BRCA2突变的类似患病率：来自1976 - 1999年以色列261例病例的证据

Similar prevalence of founder BRCA1 and BRCA2 mutations among Ashkenazi and non-Ashkenazi men with breast cancer: evidence from 261 cases in Israel, 1976-1999.

作者信息

Chodick Gabriel, Struewing Jeffery P, Ron Elaine, Rutter Joni L, Iscovich Jose

机构信息

Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD 20892-7238, USA.

出版信息

Eur J Med Genet. 2008 Mar-Apr;51(2):141-7. doi: 10.1016/j.ejmg.2007.11.001. Epub 2007 Nov 22.

DOI:10.1016/j.ejmg.2007.11.001
PMID:18158280
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2386175/
Abstract

To evaluate the potential contribution of mutations in the BRCA1 and BRCA2 genes to male breast cancer (MBC), we expanded a previous study to screen a total of 261 Israeli men diagnosed with breast carcinoma. A total of 21 BRCA2 6174delT and 8 BRCA1 185delAG mutations were found. Similar frequencies of BRCA1 and BRCA2 mutation carriers were found among Ashkenazi (12.8%) and non-Ashkenazi Jews (9.1%). The combined prevalence of BRCA1/BRCA2 founder mutations among Ashkenazi Jewish men is slightly higher than for women, due to a higher frequency of BRCA2 mutations.

摘要

为评估BRCA1和BRCA2基因突变对男性乳腺癌（MBC）的潜在影响，我们扩展了之前的一项研究，对总共261名被诊断患有乳腺癌的以色列男性进行了筛查。共发现21例BRCA2 6174delT突变和8例BRCA1 185delAG突变。在阿什肯纳兹犹太人（12.8%）和非阿什肯纳兹犹太人（9.1%）中发现BRCA1和BRCA2突变携带者的频率相似。由于BRCA2突变频率较高，阿什肯纳兹犹太男性中BRCA1/BRCA2始祖突变的综合患病率略高于女性。