Breast Cancer Research and Treatment

, Volume 134, Issue 2, pp 543–547 | Cite as

Analysis of KLLN as a high-penetrance breast cancer predisposition gene

  • Ella R. Thompson
  • Kylie L. Gorringe
  • David Y. H. Choong
  • Diana M. Eccles
  • kConFab
  • Gillian Mitchell
  • Ian G. CampbellEmail author
Preclinical Study


KLLN is a p53 target gene with DNA binding function and represents a highly plausible candidate breast cancer predisposition gene. We screened for predisposing variants in 860 high-risk breast cancer families using high resolution melt analysis. A germline c.339_340delAG variant predicted to cause premature termination of the protein after 57 alternative amino acid residues was identified in 3/860 families who tested negative for BRCA1 and BRCA2 mutations and in 1/84 sporadic breast cancer cases. However, the variant was also detected in 2/182 families with known BRCA1 or BRCA2 mutations and in 2/464 non-cancer controls. Furthermore, loss of the mutant allele was detected in 2/2 breast tumors. Our data suggest that pathogenic mutations in KLLN are rare in breast cancer families and the c.339_340delAG variant does not represent a high-penetrance breast cancer risk allele.


Familial breast cancer Germline Mutation BRCAX KILLIN 



This work was supported by the Victorian Breast Cancer Research Consortium.

Conflicts of interest

The authors declare no conflicts of interest.


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Copyright information

© Springer Science+Business Media, LLC. 2012

Authors and Affiliations

  • Ella R. Thompson
    • 1
  • Kylie L. Gorringe
    • 1
    • 2
  • David Y. H. Choong
    • 1
  • Diana M. Eccles
    • 3
  • kConFab
    • 4
  • Gillian Mitchell
    • 5
  • Ian G. Campbell
    • 1
    • 2
    Email author
  1. 1.VBCRC Cancer Genetics LaboratoryPeter MacCallum Cancer CentreEast MelbourneAustralia
  2. 2.Department of Pathology and Sir Peter MacCallum Department of OncologyUniversity of MelbourneMelbourneAustralia
  3. 3.Cancer Sciences Division, Faculty of MedicineUniversity of Southampton, Princess Anne HospitalSouthamptonUK
  4. 4.Kathleen Cuningham Foundation for Research into Familial Breast Cancer (kConFab)Peter MacCallum Cancer CentreEast MelbourneAustralia
  5. 5.Familial Cancer CentrePeter MacCallum Cancer CentreEast MelbourneAustralia

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