Journal Article

<i>p</i>53 polymorphisms and haplotypes in breast cancer

A. Sjãlander, R. Birgander, G. Hallmans, S. Cajander, P. Lenner, L. Athlin, G. Beckman and L. Beckman

in Carcinogenesis

Volume 17, issue 6, pages 1313-1316
Published in print June 1996 | ISSN: 0143-3334
Published online June 1996 | e-ISSN: 1460-2180 | DOI:
p53 polymorphisms and haplotypes in breast

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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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Subjects: Clinical Cytogenetics and Molecular Genetics

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