西班牙乳腺癌患者中BRCA1和BRCA2犹太突变的患病率。
Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients.
作者信息
Díez O, Osorio A, Robledo M, Barroso A, Domènech M, Cortés J, Albertos J, Sanz J, Brunet J, SanRomán J M, Alonso M C, Baiget M, Benítez J
机构信息
Servei de Genètica, Hospital de Sant Pau, Barcelona, Spain.
出版信息
Br J Cancer. 1999 Mar;79(7-8):1302-3. doi: 10.1038/sj.bjc.6690208.
Abstract
We screened the 185delAG and 5382insC (BRCA1) and the 6174delT (BRCA2) mutation in 298 Spanish women with breast cancer. Two women (one with Sephardic ancestors) presented the 185delAG mutation and the same haplotype reported in Ashkenazim with this mutation. This suggests a common origin of the 185delAG in both Sephardic and Ashkenazi populations.
摘要
我们对298名患有乳腺癌的西班牙女性进行了185delAG和5382insC（BRCA1）以及6174delT（BRCA2）突变检测。两名女性（其中一名有西班牙裔犹太人祖先）出现了185delAG突变，且与阿什肯纳兹人中该突变所报告的单倍型相同。这表明185delAG在西班牙裔犹太人和阿什肯纳兹人群体中有着共同的起源。
相似文献
1
Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients.西班牙乳腺癌患者中BRCA1和BRCA2犹太突变的患病率。
Br J Cancer. 1999 Mar;79(7-8):1302-3. doi: 10.1038/sj.bjc.6690208.
2
Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2.阿什肯纳兹犹太人群中BRCA1和BRCA2常见突变的频率。
Nat Genet. 1996 Oct;14(2):185-7. doi: 10.1038/ng1096-185.
3
The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%.在德系犹太人个体中，BRCA2基因6174delT突变的携带频率约为1%。
Nat Genet. 1996 Oct;14(2):188-90. doi: 10.1038/ng1096-188.
4
Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer.对患有家族性乳腺癌和卵巢癌的德系犹太及非德系犹太女性的BRCA1和BRCA2进行突变分析。
Hum Mutat. 2000 Dec;16(6):491-501. doi: 10.1002/1098-1004(200012)16:6<491::AID-HUMU6>3.0.CO;2-J.
5
The rate of the founder Jewish mutations in BRCA1 and BRCA2 in prostate cancer patients in Israel.以色列前列腺癌患者中BRCA1和BRCA2基因的犹太奠基者突变率。
Br J Cancer. 2000 Aug;83(4):463-6. doi: 10.1054/bjoc.2000.1249.
6
Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer.患乳腺癌的阿什肯纳兹犹太女性中BRCA2基因6174位密码子T缺失突变的复发情况
Nat Genet. 1996 May;13(1):126-8. doi: 10.1038/ng0596-126.
7
BRCA1 and BRCA2 founder mutations in patients with bilateral breast cancer.双侧乳腺癌患者中的BRCA1和BRCA2始祖突变
Eur J Hum Genet. 1999 Oct-Nov;7(7):833-6. doi: 10.1038/sj.ejhg.5200371.
8
Double heterozygosity for mutations in the BRCA1 and BRCA2 genes in a breast cancer patient.一名乳腺癌患者中BRCA1和BRCA2基因发生突变的双重杂合性。
Arch Pathol Lab Med. 1998 Jun;122(6):548-50.
9
Founder BRCA 1 and 2 mutations among a consecutive series of Ashkenazi Jewish ovarian cancer patients.连续一系列阿什肯纳兹犹太卵巢癌患者中的始祖BRCA 1和2突变
Gynecol Oncol. 2000 Aug;78(2):148-51. doi: 10.1006/gyno.2000.5848.
10
Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.双侧乳腺癌患者中BRCA1和BRCA2基因的突变
Br J Cancer. 2001 Sep 14;85(6):850-8. doi: 10.1054/bjoc.2001.2016.
引用本文的文献
1
Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants.西班牙拉里奥哈地区BRCA1和BRCA2基因的分子分析：五个新变体
Hered Cancer Clin Pract. 2024 Oct 22;22(1):22. doi: 10.1186/s13053-024-00296-2.
2
[Not Available].[无可用内容]
Adv Lab Med. 2023 Jul 10;4(3):288-297. doi: 10.1515/almed-2023-0032. eCollection 2023 Sep.
3
Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia.穆尔西亚地区家族性遗传性乳腺癌和卵巢癌相关的复发性基因变异及临床意义不确定变异的优先级排序
Adv Lab Med. 2023 Sep 22;4(3):279-287. doi: 10.1515/almed-2023-0103. eCollection 2023 Sep.
4
Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer.患有乳腺癌的墨西哥女性中BRCA1和BRCA2基因的复发性突变
Cancer Epidemiol Biomarkers Prev. 2015 Mar;24(3):498-505. doi: 10.1158/1055-9965.EPI-13-0980. Epub 2014 Nov 4.
5
Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing.应对意料之外的情况：消费者对直接获得 BRCA 基因突变检测的反应。
PeerJ. 2013 Feb 12;1:e8. doi: 10.7717/peerj.8. Print 2013.
6
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.欧洲发现 BRCA1/2 基因突变：对遗传性乳腺癌-卵巢癌预防和控制的影响。
EPMA J. 2010 Sep;1(3):397-412. doi: 10.1007/s13167-010-0037-y. Epub 2010 Jun 27.
7
Breast feeding, parity and breast cancer subtypes in a Spanish cohort.母乳喂养、生育次数与西班牙队列乳腺癌亚型的关系
PLoS One. 2012;7(7):e40543. doi: 10.1371/journal.pone.0040543. Epub 2012 Jul 11.
8
Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.对不同种族人群中 BRCA1 基因 185delAG 突变的单体型分析。
Eur J Hum Genet. 2013 Feb;21(2):212-6. doi: 10.1038/ejhg.2012.124. Epub 2012 Jul 4.
9
Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing.西班牙不同地区复发性 BRCA1 和 BRCA2 突变的异质性流行率：对基因检测的影响。
Fam Cancer. 2010 Jun;9(2):187-91. doi: 10.1007/s10689-009-9301-5.
10
Performance of prediction models for BRCA mutation carriage in three racial/ethnic groups: findings from the Northern California Breast Cancer Family Registry.三个种族/族裔群体中BRCA突变携带预测模型的表现：来自北加利福尼亚乳腺癌家族登记处的发现
Cancer Epidemiol Biomarkers Prev. 2009 Apr;18(4):1084-91. doi: 10.1158/1055-9965.EPI-08-1090. Epub 2009 Mar 31.
本文引用的文献
1
The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim.185delAG BRCA1基因突变起源于犹太人散居海外之前，并不局限于德系犹太人。
Hum Mol Genet. 1998 May;7(5):801-5. doi: 10.1093/hmg/7.5.801.
2
Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2.阿什肯纳兹犹太人群中BRCA1和BRCA2常见突变的频率。
Nat Genet. 1996 Oct;14(2):185-7. doi: 10.1038/ng1096-185.
3
4
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study.61个家族中6种常见BRCA1突变的单倍型和表型分析：一项国际研究的结果
Am J Hum Genet. 1996 Feb;58(2):271-80.
5
BRCA1 mutations in Ashkenazi Jewish women.德系犹太女性中的BRCA1基因突变
Am J Hum Genet. 1995 Jul;57(1):189.
6
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals.在阿什肯纳兹犹太人群体中，BRCA1基因185delAG突变的携带频率约为1%。
Nat Genet. 1995 Oct;11(2):198-200. doi: 10.1038/ng1095-198.
Zotero 插件