CYP17 promoter polymorphism and breast cancer risk in males and females in relation to BRCA2 status

Katrín Gudmundsdottir, S. Thorlacius, J. G. Jonasson, B. F. Sigfusson, L. Tryggvadottir, J. E. Eyfjord*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

28 Citations (Scopus)


A T-C polymorphism in the promoter region of the CYP17 gene has been associated with male and female breast cancer risk as well as early-onset familial breast cancer. The potential role of this polymorphism was investigated in relation to breast cancer risk in Icelandic male and female carriers and noncarriers of a BRCA2 mutation. The study population consisted of 39 male and 523 female breast cancer cases and 309 male and 395 female controls. Of the cases, 15 males and 55 females carried a BRCA2 mutation. We did not find a significant association between male breast cancer risk and CYP17 genotypes. Among male breast cancer cases, the frequency of the CC genotype was higher among carriers of the 999del5 mutation (33.3%) than noncarriers (16.7%), although this difference also did not reach a statistical significance. No association was observed with breast cancer risk among females irrespective of menopausal status, stage of the disease or BRCA2 status. Our findings do not indicate a role for the CYP17 T-C polymorphism in female breast cancer, but a role in male carriers of a BRCA2 mutation could not be excluded because of the small sample size.

Original languageEnglish
Pages (from-to)933-936
Number of pages4
JournalBritish Journal of Cancer
Issue number6
Publication statusPublished - 24 Mar 2003

Bibliographical note

Funding Information:
We thank the Department of Pathology, University Hospital for their collaboration, the Icelandic Cancer Society’s Biological Specimen Bank for supplying samples and Gudridur H Olafsdottir for data management. This work was supported by grants from the Icelandic Cancer Society Science Fund and The Icelandic Research Fund for graduate students.

Other keywords

  • BRCA2
  • CYP17
  • Male and female breast cancer


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