Frequent somatic mutations of GATA3 in non-BRCA1/BRCA2 familial breast tumors, but not in BRCA1-, BRCA2- or sporadic breast tumors

被引：30

作者：

Arnold, Jeremy M. ^{[1
]}

Choong, David Y. H. ^{[2
]}

Thompson, Ella R. ^{[2
]}

Waddell, Nic ^{[1
]}

Lindeman, Geoffrey J. ^{[3
]}

Visvader, Jane E. ^{[3
]}

Campbell, Ian G. ^{[2
,4
]}

Chenevix-Trench, Georgia ^{[1
]}

机构：

[1] Royal Brisbane Hosp, Queensland Inst Med Res, Herston, Qld 4029, Australia

[2] Peter MacCallum Canc Ctr, Canc Genet Lab, Victorian Breast Canc Res Consortium, Melbourne, Vic, Australia

[3] Walter & Eliza Hall Inst Med Res, Victorian Breast Canc Res Consortium, Melbourne, Vic 3050, Australia

[4] Univ Melbourne, Dept Pathol, Melbourne, Vic, Australia

来源：

BREAST CANCER RESEARCH AND TREATMENT | 2010年 / 119卷 / 02期

基金：

澳大利亚国家健康与医学研究理事会;

关键词：

GATA3; Somatic mutation; Breast tumor; BRCAx; CANCER SUSCEPTIBILITY ALLELES; MAMMARY-GLAND; ESTROGEN-RECEPTOR; ATM MUTATIONS; CELL FATE; GENE; EXPRESSION; DIFFERENTIATION; MORPHOGENESIS; ASSOCIATION;

D O I：

10.1007/s10549-008-0269-x

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Heterozygous somatic mutations of the transcription factor, GATA-3, have recently been reported in approximately 5% breast of tumors unselected for family history. We sequenced the GATA-3 gene in 55 breast tumors from women with familial breast cancer, and found seven heterozygous somatic mutations, all in non-BRCA1/2 cases in which the frequency was 22%. In contrast, we found mutations of GATA-3 in only 4% of 81 sporadic tumors analysed. It is possible that GATA3 mutations occur earlier in the evolution of BRCAx tumors, compared to BRCA1, BRCA2 or sporadic tumors, and are therefore easier to detect by direct sequencing in the presence of some stromal contamination.

引用

页码：491 / 496

页数：6

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