The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here:

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

Åke Borg

Åke Borg

Principal investigator

Åke Borg

Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair


  • Lao Saal
  • Sofia Gruvberger
  • Camilla Persson
  • Kristina Lövgren
  • Johan Staaf
  • Göran B Jönsson
  • MM Pires
  • Karolina Holm
  • Johan Vallon-Christersson
  • Håkan Olsson
  • Morten Krogh
  • Jorma Isola
  • Åke Borg

Summary, in English

Basal-like breast cancer (BBC) is a subtype of breast cancer with poor prognosis1, 2, 3. 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 subtype3, 4, 5; 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.


  • Breastcancer-genetics
  • Division of Translational Cancer Research
  • Tumor microenvironment
  • Computational Biology and Biological Physics - Has been reorganised
  • Familial Breast Cancer

Publishing year







Nature Genetics





Document type

Journal article


Nature Publishing Group


  • Cancer and Oncology



Research group

  • Familial Breast Cancer


  • ISSN: 1546-1718