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Identification of novel intronic BRCA1 variants of uncertain significance in a Thai hereditary breast cancer family.

作者信息

Ratanaphan Adisorn, Panomwan Pornpen, Canyuk Bhutorn, Maipang Tanaphon

机构信息

Faculty of Pharmaceutical Sciences, Department of Pharmaceutical Chemistry, Laboratory of Pharmaceutical Biotechnology and Prince of Songkla University, Hat-Yai, Songkhla 90112, Thailand.

出版信息

J Genet. 2011 Aug;90(2):327-31. doi: 10.1007/s12041-011-0069-7.

DOI:10.1007/s12041-011-0069-7
PMID:21869484
Abstract
摘要

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本文引用的文献

1
Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008.2008 年全球癌症负担估计值：GLOBOCAN 2008。
Int J Cancer. 2010 Dec 15;127(12):2893-917. doi: 10.1002/ijc.25516.
2
Advances in mechanisms of genetic instability related to hereditary neurological diseases.与遗传性神经疾病相关的基因不稳定机制的进展
Nucleic Acids Res. 2005 Jul 8;33(12):3785-98. doi: 10.1093/nar/gki697. Print 2005.
3
Complex gene rearrangements caused by serial replication slippage.由连续复制滑移引起的复杂基因重排。
Hum Mutat. 2005 Aug;26(2):125-34. doi: 10.1002/humu.20202.
4
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs.人类遗传性疾病和癌症中的易位与大片段缺失断点I：核苷酸组成及与重组相关的基序
Hum Mutat. 2003 Sep;22(3):229-44. doi: 10.1002/humu.10254.
5
Analysis of breast cancer susceptibility genes BRCA1 and BRCA2 in Thai familial and isolated early-onset breast and ovarian cancer.泰国家族性和散发性早发性乳腺癌及卵巢癌中乳腺癌易感基因BRCA1和BRCA2的分析
Hum Mutat. 2002 Sep;20(3):230. doi: 10.1002/humu.9049.
6
Triplet repeat DNA structures and human genetic disease: dynamic mutations from dynamic DNA.三联体重复DNA结构与人类遗传疾病：源于动态DNA的动态突变
J Biosci. 2002 Feb;27(1 Suppl 1):53-65. doi: 10.1007/BF02703683.
7
BRCA1 and BRCA2 and the genetics of breast and ovarian cancer.BRCA1和BRCA2与乳腺癌和卵巢癌的遗传学
Hum Mol Genet. 2001 Apr;10(7):705-13. doi: 10.1093/hmg/10.7.705.
8
How many more breast cancer predisposition genes are there?还有多少乳腺癌易感基因？
Breast Cancer Res. 1999;1(1):14-7. doi: 10.1186/bcr6. Epub 1999 Aug 23.
9
Role of the tumor suppressor gene Brca1 in genetic stability and mammary gland tumor formation.肿瘤抑制基因Brca1在遗传稳定性和乳腺肿瘤形成中的作用。
Oncogene. 2000 Feb 21;19(8):1059-64. doi: 10.1038/sj.onc.1203269.
10
DNA secondary structure: a common and causative factor for expansion in human disease.DNA二级结构：人类疾病中重复序列扩增的常见致病因素
Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):1823-5. doi: 10.1073/pnas.96.5.1823.