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Åke Borg

Åke Borg

Principal investigator

Åke Borg

CHEK2 1100delC in patients with metachronous cancers of the breast and the colorectum

Author

  • Anna Isinger Ekstrand
  • M Bhat
  • Åke Borg
  • Mef Nilbert

Summary, in English

Background: Development of multiple primary tumors is a hallmark of hereditary cancer. At least 1/10 of breast cancers and colorectal cancers occur because of heredity and recently the cell cycle kinase 2, CHEK2 1100delC allele has been identified at a particularly high frequency in families with hereditary breast and colorectal cancer. Methods: We utilized the Southern Sweden population-based cancer registry to identify women with double primary breast and colorectal cancer and sequenced tumor material in order to assess the contribution of the CHEK2 1100delC to the development of such metachronous tumors. Results: Among the 75 patients successfully analyzed, 2 (2.5%) carried the CHEK2 1100delC allele. which was not significantly different (p = 0.26) from the 1% (3/300) carriers identified in the control group. Conclusion: In summary, our data suggest that the CHEK2 1100delC is not a major cause of double primary breast and colorectal cancer in Sweden, which suggests that this patient group should not routinely be screened for the CHEK2 1100delC variant.

Department/s

  • Breastcancer-genetics

Publishing year

2006

Language

English

Publication/Series

BMC Cancer

Volume

6

Document type

Journal article

Publisher

BioMed Central (BMC)

Topic

  • Cancer and Oncology

Status

Published

ISBN/ISSN/Other

  • ISSN: 1471-2407