Table 5.

Risk of breast cancer in association with mutations detected in benign breast tissue in structural domains of the p53 gene

DomainComponents of domain*LevelNo. casesNo. controlsUnadjusted OR (95% CI)Adjusted OR (95% CI)
DNA bindingComplete DNA-binding domainWild-type461901§1§
Other changes331271.28 (0.73-2.27)1.28 (0.70-2.33)
Present3101.29 (0.32-5.11)0.80 (0.18-3.60)
DNA encoding for amino acids in direct contact with DNAWild-type461901§1§
Changes outside DNA-binding domain331271.28 (0.73-2.26)1.27 (0.70-2.31)
Changes in DNA-binding domain but not in amino acids in direct DNA contact391.44 (0.35-5.84)0.93 (0.20-4.36)
Zinc bindingComplete zinc-binding domainWild-type461901§1§
Other changes331201.34 (0.76-2.36)1.28 (0.70-2.32)
Present3170.85 (0.22-3.23)0.77 (0.19-3.12)
DNA encoding for amino acids that directly bind zincWild-type461901§1§
Changes outside zinc-binding domain331201.34 (0.76-2.36)1.28 (0.70-2.32)
Changes in binding domain but not in amino acids that directly bind zinc3170.85 (0.22-3.23)0.77 (0.19-3.11)
Tetramerization domainWild-type461901§1§
Other changes341321.27 (0.72-2.24)1.23 (0.67-2.24)
Present251.48 (0.26-8.46)1.07 (0.14-8.31)
  • * DNA-binding domain includes the loop-sheet-helix motif [including the L1 loop (amino acids 124-141), the S2-S2′ β-strand (amino acids 124-141), the COOH-terminal part of the S10 β-strand (amino acids 271-274), amino acids 275-277, and the H2 helix (amino acids 278-286) together with the L3 loop (amino acids 236-251)]. The amino acids within the binding domain that are in direct contact with DNA are 120, 241, 248, 273, 276, 277, 280, and 283. The zinc-binding domain involves the L2 loop (amino acids 163-195) and the L3 loop. The amino acids within this domain that directly bind zinc are 176, 179, 238, and 242. The tetramerization domain involves amino acids 326-355 (41).

  • Unmatched distributions (matched ORs cannot be calculated directly from these numbers).

  • Adjusted for age at menarche, age at first live birth, menopausal status, Quetelet's index, family history of breast cancer in a first-degree relative, and epithelial hyperplasia.

  • § Reference category.

  • Not estimated.