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© 1996 Oxford University Press

research-article

p53 polymorphisms and haplotypes in breast cancer

A. Sjãlander, R. Birgander, G. Hallmans 1, S. Cajander 2, P. Lenner 3, L. Athlin 4, G. Beckman and L. Beckman 5

Departments of Medical Genetics, Umeå University Sweden
1Nutritional Research, Umeå University Sweden
2Pathology, Umeå University Sweden
3Oncology, Umeå University Sweden
4Surgery, Umeå University Sweden

5To whom correspondence should be addressed

Three polymorphisms in the human tumor suppressor gene p53 (BstUI and MspI RFLPs in exon 4 and intron 6 respectively and a 16 bp duplication in intron 3) and their haplotype combinations were studied in patients with breast cancer and controls. A significant increase in the codon 72 BstUI A1 (pro) allele frequency (p= 0.016) and of individuals carrying the pro allele (pro/pro and pro/arg) (OR,1.47; p = 0.014; 95% CI, 1.08–2.00) was observed in breast cancer. This increase wasmost pronounced in highly differentiated breast cancer. Significant associations were found only in BstUIand haplotypes containing this polymorphism, which indicates that the codon 72 pro allele may be functionally involved in low malignancy breast cancer. The distributions of genotypic combinations in breast cancer patients and controls were significantly different (p = 0.005). Two BstUI–16 bp-MspI combinations were significantly overrepresented; 2–1, 1–1, 2–2 (OR, 1.61; 95% CI, 1.13–2.30) and 1–1, 2–1, 2–1 (OR, 2.94; 95% CI, 1.37–6.27).


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