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Oestrogen receptor (ESR) polymorphisms and breast cancer susceptibility

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Abstract

The allele frequencies of three restriction fragment length polymorphisms at the oestrogen receptor (ESR) locus were compared between breast cancer patients and controls. Leucocyte or tumour DMA from 238 and 122 patients, respectively, and leucocyte DNA from 672 controls was analysed. Alleles having the XbaI restriction site detected by the M72 probe (covering exon 2 and flanking introns) were significantly more frequent in patients than in controls (P = 0.033). Within the breast cancer population, the presence of the XbaI restriction site was associated with late onset of the disease but this association was only of borderline significance. The allele frequencies of the BstUI polymorphism in exon 1 and the PvuII polymorphism in intron 1 did not differ between cases and controls. However, alleles with the PvuII restriction site were more frequent in patients with progesterone receptor negative primary tumours than in patients with progesterone receptor positive primary tumours (P = 0.027). There was no significant association between any of the ESR polymorphisms and the oestrogen receptor status of the primary tumours. The results indicate that the ESR gene or a gene closely linked to it is involved in the development of at least a subset of breast carcinomas.

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Authors and Affiliations

  1. Department of Genetics, Institute for Cancer Research, Norwegian Radium Hospital, N-0310, Oslo, Norway

    Tone Ikdahl Anderson, Ketil Riddervold Heimdal, Martina Skrede & Anne-Lise Børresen

  2. Department of Oncology, The Norwegian Radium Hospital, N-0310, Oslo, Norway

    Kjell Tveit

  3. Institute of Medical Genetics, University of Oslo, N-0315, Oslo, Norway

    Kåre Berg

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  1. Tone Ikdahl Anderson
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  2. Ketil Riddervold Heimdal
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  3. Martina Skrede
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  4. Kjell Tveit
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  5. Kåre Berg
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  6. Anne-Lise Børresen
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Anderson, T.I., Heimdal, K.R., Skrede, M. et al. Oestrogen receptor (ESR) polymorphisms and breast cancer susceptibility. Hum Genet 94, 665–670 (1994). https://doi.org/10.1007/BF00206961

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  • DOI: https://doi.org/10.1007/BF00206961

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