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No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer
  1. P Vahteristo1,
  2. S Ojala1,
  3. A Tamminen1,
  4. J Tommiska1,
  5. H Sammalkorpi2,
  6. S Kiuru-Kuhlefelt2,4,
  7. H Eerola1,3,
  8. L A Aaltonen2,
  9. K Aittomäki2,4,
  10. H Nevanlinna1
  1. 1Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland
  2. 2Department of Medical Genetics, Helsinki University, Helsinki, Finland
  3. 3Department of Oncology, Helsinki University Central Hospital, Helsinki, Finland
  4. 4Department of Medical Genetics, Helsinki University Central Hospital, Helsinki, Finland
  1. Correspondence to:
 Dr H Nevanlinna
 Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Biomedicum Helsinki, PO Box 700, FIN-00029 HUS, Finland; heli.nevanlinnahus.fi

Abstract

Background: The genetic background in breast cancer families with colorectal and/or endometrial cancer is mostly unknown. The functional connection between MSH6 and the known breast cancer predisposition gene product BRCA1 suggests that the MSH6 gene may also play a role in breast cancer predisposition.

Methods: We analysed 38 breast cancer families with colorectal and/or endometrial cancer for germline mutations in MSH6.

Results: No disease associated mutations were detected among the breast cancer families. However, mutation analysis revealed a Glu995STOP mutation in an atypical HNPCC family. The same mutation was found in a patient with both breast and colorectal carcinoma in our previous study, and haplotype analysis confirmed a common ancestral origin. The Glu995STOP mutation was further examined in an extensive series of 245 colorectal and 142 breast carcinoma patients with a family history of breast, colorectal, and/or endometrial carcinoma, and in 268 healthy population controls, but none was found to carry the mutation.

Conclusions: Our results suggest that MSH6 may not be the underlying gene in breast cancer families with a history of colorectal and/or endometrial cancer. The Glu995STOP founder mutation is not a familial breast cancer predisposition allele and makes only a limited contribution to colorectal cancer burden in Finland.

  • MSH6
  • breast cancer
  • germline mutation
  • colorectal cancer
  • endometrial cancer
  • founder mutation

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Footnotes

  • Competing interests: none declared