Journal Article

Polymorphic variation in <i>CYP19</i> and the risk of breast cancer

S.W. Baxter, D.Y.H. Choong, D.M. Eccles and I.G. Campbell

in Carcinogenesis

Volume 22, issue 2, pages 347-349
Published in print February 2001 | ISSN: 0143-3334
Published online February 2001 | e-ISSN: 1460-2180 | DOI:
Polymorphic variation in CYP19 and the risk of breast cancer

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The production of estrogen from androgen via the estrogen biosynthesis pathway is catalyzed by aromatase P450 (cyp19). We have assessed the frequency of allelic variants of the CYP19 intron 4 [TTTA]n repeat in 327 breast cancer cases and 253 controls from southern England. Previous studies have suggested that the [TTTA]10 repeat and [TTTA]12 repeat variants represent low penetrance breast cancer susceptibility alleles. Compared with controls our breast cancer cases had a statistically significant positive association with the [TTTA]10 allele (1.5 versus 0.2%, P = 0.028) and the [TTTA]8 allele (13.5 versus 8.7%, P = 0.012). The frequency of the [TTTA]12 allele was not significantly elevated in our study group compared with controls (2.3 versus 2.2%, P = 1.00). The CYP19 intron 4 [TTTA]n repeat is unlikely to have a functional effect on aromatase activity and it is more likely that the [TTTA]8 and [TTTA]10 variants are in linkage disequilibrium with other functional CYP19 variants.

Journal Article.  2409 words.  Illustrated.

Subjects: Clinical Cytogenetics and Molecular Genetics

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