Volume 2 Supplement 1

Second International Symposium on the Molecular Biology of Breast Cancer

Open Access

Screening breast cancer patients for Norwegian ATM mutations

  • K Laake1,
  • P Vu1,
  • TI Andersen2,
  • B Erikstein3,
  • R Kåresen4,
  • PE Lønning5,
  • E Skovlund6 and
  • A-L Børresen-Dale1
Breast Cancer Research20002(Suppl 1):P4.08


Published: 12 March 2000

Full text

Heterozygosity for Ataxia Telangiectasia (AT), a cancerprone recessive syndrome, has been associated with an increased risk of breast cancer. In the present study, 483 Norwegian breast cancer patients were screened for carrier status of six different ATM mutations found in Norwegian AT patients. One breast cancer patient carried the Norwegian founder mutation, giving a point estimate of the frequency of 0.2% (95% CI 0.01-1.2%). Assuming a 0.5% carrier frequency, the present results are consistent with a maximum 2.4-fold increased lifetime risk of breast cancer in ATM heterozygotes. The study had 95% power to detect a 4.6-fold elevated lifetime risk, and a 9-fold elevated risk in women below age 55.

Authors’ Affiliations

Department of Genetics, The Norwegian Radium Hospital
Department of Oncology, Ullevål University Hospital
Department of Oncology, The Norwegian Radium Hospital
Department of Surgery, Ullevål University Hospital
Department of Oncology, Haukeland Hospital
Clinical Research Office, The Norwegian Radium Hospital


© Current Science Ltd 2000