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Recurrent germ-line BRCA1 mutations in extended African American families with early-onset breast cancer.

作者信息

Gao Q, Neuhausen S, Cummings S, Luce M, Olopade O I

出版信息

Am J Hum Genet. 1997 May;60(5):1233-6.

PMID:9150171
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1712427/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f220/1712427/3b62c604063e/ajhg00005-0227-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f220/1712427/3b62c604063e/ajhg00005-0227-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f220/1712427/3b62c604063e/ajhg00005-0227-a.jpg

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本文引用的文献

1
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.完整的BRCA2基因及13号染色体q连锁家系中的突变。
Nat Genet. 1996 Mar;12(3):333-7. doi: 10.1038/ng0396-333.
2
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.
3
Identification of the breast cancer susceptibility gene BRCA2.乳腺癌易感基因BRCA2的鉴定。
布基纳法索乳腺癌预防的 BRCA1（c.5177_5180delGAAA rs80357867 和 c.4986+6T>C rs80358086）和 BRCA2（c.6445_6446delAT rs80359592）基因筛查。
Ethiop J Health Sci. 2022 Jul;32(4):699-708. doi: 10.4314/ejhs.v32i4.5.
4
Does race predict survival for women with invasive breast cancer?种族是否能预测浸润性乳腺癌女性的生存？
Cancer. 2019 Sep 15;125(18):3139-3146. doi: 10.1002/cncr.32296. Epub 2019 Jun 17.
5
BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry.非洲裔或有非洲血统的女性中的 BRCA1 和 BRCA2 致病性序列变异。
Hum Mutat. 2019 Oct;40(10):1781-1796. doi: 10.1002/humu.23804. Epub 2019 Jul 3.
6
Low Prevalence of the Four Common Colombian Founder Mutations in and in Early-Onset and Familial Afro-Colombian Patients with Breast Cancer.在早发性和家族性非洲裔哥伦比亚乳腺癌患者中，四种常见的哥伦比亚创始突变在 和 中的低流行率。
Oncologist. 2019 Jul;24(7):e475-e479. doi: 10.1634/theoncologist.2018-0346. Epub 2018 Dec 12.
7
A comparison of cancer risk assessment and testing outcomes in patients from underserved vs. tertiary care settings.来自医疗服务不足地区与三级医疗机构的患者的癌症风险评估及检测结果比较。
J Community Genet. 2018 Jul;9(3):233-241. doi: 10.1007/s12687-017-0347-z. Epub 2017 Nov 18.
8
Mutations in context: implications of BRCA testing in diverse populations.特定背景下的突变：BRCA检测在不同人群中的意义
Fam Cancer. 2018 Oct;17(4):471-483. doi: 10.1007/s10689-017-0038-2.
9
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.欧洲裔和非裔美国人中可操作疾病的基因组变异的综合外显率。
Sci Transl Med. 2016 Nov 9;8(364):364ra151. doi: 10.1126/scitranslmed.aag2367.
10
BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome.巴西遗传性乳腺癌和卵巢癌综合征患者的BRCA1和BRCA2重排
Genet Mol Biol. 2016 Apr-Jun;39(2):223-31. doi: 10.1590/1678-4685-GMB-2014-0350.
Nature. 1995;378(6559):789-92. doi: 10.1038/378789a0.
4
Racial differences in survival from breast cancer. Results of the National Cancer Institute Black/White Cancer Survival Study.乳腺癌生存的种族差异。美国国立癌症研究所黑/白癌症生存研究结果。
JAMA. 1994 Sep 28;272(12):947-54. doi: 10.1001/jama.272.12.947.
5
Trends in breast cancer in younger women in contrast to older women.年轻女性与老年女性乳腺癌的趋势对比。
J Natl Cancer Inst Monogr. 1994(16):7-14.
6
BRCA1 mutations in primary breast and ovarian carcinomas.原发性乳腺癌和卵巢癌中的BRCA1基因突变。
Science. 1994 Oct 7;266(5182):120-2. doi: 10.1126/science.7939630.
7
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.早发性乳腺癌和卵巢癌家族中BRCA1基因的突变
Nat Genet. 1994 Dec;8(4):387-91. doi: 10.1038/ng1294-387.
8
Racial disparity in the association of p53 gene alterations with breast cancer survival.
Cancer Res. 1995 Apr 1;55(7):1485-90.
9
A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening.一项关于BRCA1乳腺癌和卵巢癌易感基因中80种突变的合作研究。对症状前检测和筛查的意义。
JAMA. 1995 Feb 15;273(7):535-41.
10
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.