Table 4.

Cases and controls by individual mutations

Type of mutationSPMMPMOdds ratio* (95% CI)
No functional mutation2,3941,1541.0
Insertion or deletion830.8 (0.2-3.3)
Missense (p16 only)12§11§3.9 (1.6-9.3)
Missense (p16 and p14)5138.7 (2.9-26.5)
Missense (p14 only)**310.7 (0.1-6.8)
Noncoding transcriptional change††2715.3 (2.9-79.6)
  • * Adjusted for age, sex, center, and age-sex interaction.

  • Mutations observed: 32_33 ins (24 bp; n = 6), 8_33 del (24 bp; n = 2), 87_89 delG (n = 2), 131_132 insA (n = 1).

  • Mutations observed: Leu16Arg (n = 2), Gly23Arg (n = 1), Gly23Ser (n = 1), Arg24Pro (n = 2), Leu32Pro (n = 2), Pro41Pro+ Ile49Thr (n = 1), Tyr44Stop (n = 1), Ile49Thr (n = 1), Ile49Ser (n = 1), Gln50Pro (n = 1), Ala57Val (n = 2), Arg58Gln (n = 1), Ala60Val (n = 1), His83Gln (n = 1), Arg124Cis (n = 1), Asp125His (n = 3).

  • § One patient with mutation Gln50Pro is both a case and a control.

  • Mutations observed: Met53Ile [c.159G>A (n = 2) and c.159G>C (n = 2)], His83Tyr (n = 1), Arg99Trp (n = 1), Gly101Trp (n = 6), Ala102Thr (n = 1), Ala102Ala+Asp108Asn (n = 1), Asp108Asn (n = 1), Arg112Gly (n = 2). Readers may notice that the results differ by two from an earlier report that we published using these data (14). Additional pathology review led us to exclude some participants due to reclassification of prior invasive tumors as in situ, and two of these exclusions were mutation carriers, one at Met53Ile and one at Ser56Ile.

  • One patient with mutation Met53Ile is both a case and a control.

  • ** Mutations observed: Arg58Arg (n = 1); Val106Val+Ala148Thr (n = 3).

  • †† Mutation observed: −34G>T (n = 9).