在一个泰国遗传性乳腺癌家族中鉴定意义未明的新型BRCA1内含子变异体。 - Suppr

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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Identification of novel intronic BRCA1 variants of uncertain significance in a Thai hereditary breast cancer family.在一个泰国遗传性乳腺癌家族中鉴定意义未明的新型BRCA1内含子变异体。

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Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.鉴定导致 BRCA1 和 BRCA2 阴性乳腺癌和卵巢癌患者遗传性乳腺癌和卵巢癌的序列变异。

Sci Rep. 2019 Dec 27;9(1):19986. doi: 10.1038/s41598-019-55515-x.

Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation.遗传性乳腺癌和卵巢癌基因中不确定临床意义的变异：临床注释功能分析的最佳实践。

J Med Genet. 2020 Aug;57(8):509-518. doi: 10.1136/jmedgenet-2019-106368. Epub 2020 Mar 9.

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Hum Mutat. 2016 Jul;37(7):640-52. doi: 10.1002/humu.22972. Epub 2016 Mar 18.

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Cancer. 2019 Mar 1;125(5):690-697. doi: 10.1002/cncr.31856. Epub 2018 Nov 27.

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Hum Mutat. 2005 Aug;26(2):125-34. doi: 10.1002/humu.20202.

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.

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Hum Mutat. 2002 Sep;20(3):230. doi: 10.1002/humu.9049.

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.

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.

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Breast Cancer Res. 1999;1(1):14-7. doi: 10.1186/bcr6. Epub 1999 Aug 23.

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Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):1823-5. doi: 10.1073/pnas.96.5.1823.

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

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