Vitamin D receptor gene polymorphism is associated with metastatic breast cancer

Marco Ruggiero, Stefania Pacini, Stefano Aterini, Carlo Fallai, Carla Ruggiero, Paolo Pacini

Research output: Contribution to journalArticle

Abstract

The vitamin D receptor (VDR) has been detected in breast tumor cells. We tested the hypothesis that VDR gene polymorphism might influence the outcome of women affected by breast cancer. A total of 88 breast cancer patients were recruited: 50 women were affected by newly diagnosed breast cancer whereas 38 women suffered from relapsing disease. The individual genetic pattern for VDR was evaluated by DNA extraction followed by PCR amplification of the VDR gene, and digestion with the restriction enzyme BsmI. In 167 healthy women, participating in the osteoporosis prevention trial and being used as a control, we detected 121 Bb heterozygotes (72%), 26 homozygotes for the bb alleles (16%), and 20 homozygotes for the BB alleles (12%). In the newly diagnosed breast cancer group the occurrence of Bb patients was 58% (29/50); bb patients represented 22% (11/50), and BB cases were 20% (10/50). The VDR frequency distribution in the control and primary disease patient groups was not statistically different. In the metastatic cancer group, the prevalence of the bb genotype (14/38; 37%) was double the percentage of control subjects, whereas the percentage of BB women with metastases was half the control group (2/38; 5%). Women who were homozygous bb appeared to have almost a four times higher risk of developing metastases than BB women. Whatever the molecular mechanisms underlying the VDR effects in cancer cells, we believe that the VDR gene polymorphism may represent an important determinant in the evaluation of women affected by breast cancer and might help design targeted therapy.

Original languageEnglish
Pages (from-to)43-46
Number of pages4
JournalOncology Research
Volume10
Issue number1
Publication statusPublished - 1998

Fingerprint

Calcitriol Receptors
Breast Neoplasms
Genes
Homozygote
Alleles
Neoplasm Metastasis
Heterozygote
Osteoporosis
Digestion
Neoplasms
Genotype
Polymerase Chain Reaction
Control Groups
DNA
Enzymes

Keywords

  • Breast cancer
  • Disease susceptibility
  • Polymorphism
  • Vitamin D receptor gene

ASJC Scopus subject areas

  • Cancer Research

Cite this

Ruggiero, M., Pacini, S., Aterini, S., Fallai, C., Ruggiero, C., & Pacini, P. (1998). Vitamin D receptor gene polymorphism is associated with metastatic breast cancer. Oncology Research, 10(1), 43-46.

Vitamin D receptor gene polymorphism is associated with metastatic breast cancer. / Ruggiero, Marco; Pacini, Stefania; Aterini, Stefano; Fallai, Carlo; Ruggiero, Carla; Pacini, Paolo.

In: Oncology Research, Vol. 10, No. 1, 1998, p. 43-46.

Research output: Contribution to journalArticle

Ruggiero, M, Pacini, S, Aterini, S, Fallai, C, Ruggiero, C & Pacini, P 1998, 'Vitamin D receptor gene polymorphism is associated with metastatic breast cancer', Oncology Research, vol. 10, no. 1, pp. 43-46.
Ruggiero M, Pacini S, Aterini S, Fallai C, Ruggiero C, Pacini P. Vitamin D receptor gene polymorphism is associated with metastatic breast cancer. Oncology Research. 1998;10(1):43-46.
Ruggiero, Marco ; Pacini, Stefania ; Aterini, Stefano ; Fallai, Carlo ; Ruggiero, Carla ; Pacini, Paolo. / Vitamin D receptor gene polymorphism is associated with metastatic breast cancer. In: Oncology Research. 1998 ; Vol. 10, No. 1. pp. 43-46.
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