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Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair. 2008
Lao H Saal, and
Sofia K Gruvberger-Saal, and
Camilla Persson, and
Kristina Lövgren, and
Mervi Jumppanen, and
Johan Staaf, and
Göran Jönsson, and
Maira M Pires, and
Matthew Maurer, and
Karolina Holm, and
Susan Koujak, and
Shivakumar Subramaniyam, and
Johan Vallon-Christersson, and
Håkan Olsson, and
Tao Su, and
Lorenzo Memeo, and
Thomas Ludwig, and
Stephen P Ethier, and
Morten Krogh, and
Matthias Szabolcs, and
Vundavalli V V S Murty, and
Jorma Isola, and
Hanina Hibshoosh, and
Ramon Parsons, and
Ake Borg
Institute for Cancer Genetics, Columbia University, New York, New York 10032, USA.
Basal-like breast cancer (BBC) is a subtype of breast cancer with poor prognosis. Inherited mutations of BRCA1, a cancer susceptibility gene involved in double-strand DNA break (DSB) repair, lead to breast cancers that are nearly always of the BBC subtype; however, the precise molecular lesions and oncogenic consequences of BRCA1 dysfunction are poorly understood. Here we show that heterozygous inactivation of the tumor suppressor gene Pten leads to the formation of basal-like mammary tumors in mice, and that loss of PTEN expression is significantly associated with the BBC subtype in human sporadic and BRCA1-associated hereditary breast cancers. In addition, we identify frequent gross PTEN mutations, involving intragenic chromosome breaks, inversions, deletions and micro copy number aberrations, specifically in BRCA1-deficient tumors. These data provide an example of a specific and recurrent oncogenic consequence of BRCA1-dependent dysfunction in DNA repair and provide insight into the pathogenesis of BBC with therapeutic implications. These findings also argue that obtaining an accurate census of genes mutated in cancer will require a systematic examination for gross gene rearrangements, particularly in tumors with deficient DSB repair.
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