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一名中国早发性乳腺癌女性中存在一种新型 BRCA1 种系突变。

A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer.

机构信息

Division of Breast Surgery, Queen Mary and Tung Wah Hospital, The University of Hong Kong, Pokfulam, Hong Kong.

出版信息

Fam Cancer. 2011 Jun;10(2):233-7. doi: 10.1007/s10689-011-9429-y.

DOI:10.1007/s10689-011-9429-y
PMID:21404118
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3100488/
Abstract

Germline mutations in the two breast cancer susceptibility genes, BRCA1 and BRCA2 account for a significant portion of hereditary breast/ovarian cancer. De novo mutations such as multiple exon deletion are rarely occurred in BRCA1 and BRCA2. During our mutation screening for BRCA1/2 genes to Chinese women with risk factors for hereditary breast/ovarian cancer, we identified a novel germline mutation, consisting of a deletion from exons 1 to 12 in BRCA1 gene, in a patient diagnosed with early onset triple negative breast cancer with no family history of cancer. None of her parents carried the mutation and molecular analysis showed that this novel de novo germline mutation resulted in down-regulation of BRCA1 gene expression.

摘要

胚系突变在两个乳腺癌易感基因，BRCA1 和 BRCA2 中占遗传性乳腺癌/卵巢癌的很大一部分。BRCA1 和 BRCA2 中很少发生从头突变，如多个外显子缺失。在对有遗传性乳腺癌/卵巢癌风险因素的中国女性进行 BRCA1/2 基因突变筛查时，我们在一位早期三阴性乳腺癌患者中发现了一个新的胚系突变，该突变涉及 BRCA1 基因的 1 至 12 外显子缺失，该患者无癌症家族史。她的父母均未携带该突变，分子分析表明，这种新的从头胚系突变导致 BRCA1 基因表达下调。

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[10]
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本文引用的文献

[1]
An empirical analysis of the effects of consanguineous marriages on economic development.

J Fam Hist. 2010

[2]
High-resolution melting analysis for rapid screening of BRCA2 founder mutations in Southern Chinese breast cancer patients.

Breast Cancer Res Treat. 2010-7

[3]
Choice of management of southern Chinese BRCA mutation carriers.

World J Surg. 2010-7

[4]
Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer.

Fam Cancer. 2009-7-21

[5]
A BRCA2 founder mutation and seven novel deleterious BRCA mutations in southern Chinese women with breast and ovarian cancer.

Breast Cancer Res Treat. 2009-10

[6]
Novel de novo BRCA2 mutation in a patient with a family history of breast cancer.

BMC Med Genet. 2008-7-2

[7]
Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families.

BMC Cancer. 2008-5-26

[8]
Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH).

Hum Mutat. 2008-4

[9]
Characterization of the pathogenic mechanism of a novel BRCA2 variant in a Chinese family.

Fam Cancer. 2008

[10]
Consanguineous marriages in Iranian folktales.

Community Genet. 2007

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