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

JM Arnold; DYH Choong; ER Thompson; N Waddell; GJ Lindeman; JE Visvader; IG Campbell; G Chenevix-Trench

Journal article

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

JM Arnold, DYH Choong, ER Thompson, N Waddell, GJ Lindeman, JE Visvader, IG Campbell, G Chenevix-Trench

Breast Cancer Research and Treatment | SPRINGER | Published : 2010

DOI: 10.1007/s10549-008-0269-x

Abstract

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. © 2009 Springer Science+B..

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University of Melbourne Researchers

Ella Thompson Author

Geoffrey Lindeman Author

Jane Visvader Author

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Grants

Awarded by National Breast Cancer Foundation

Funding Acknowledgements

We wish to thank Heather Thorne, Eveline Niedermayr, all the kConFab research nurses and staff, the heads and staff of the Family Cancer Clinics, and the Clinical Follow Up Study (funded by NHMRC grants 145684, 288704 and 454508) for their contributions to this resource, and the many families who contribute to kConFab. kConFab is supported by grants from the National Breast Cancer Foundation, the National Health and Medical Research Council (NHMRC) and by the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. We would also like to thank Anna Marsh for technical assistance. GCT is a Senior Principal Research Fellow, and IGC is a Senior Research Fellow, of the NHMRC.