Type of mutation | SPM | MPM | Odds ratio* (95% CI) |
---|---|---|---|

No functional mutation | 2,394 | 1,154 | 1.0 |

Insertion or deletion^{†} | 8 | 3 | 0.8 (0.2-3.3) |

Missense (p16 only)^{‡} | 12^{§} | 11^{§} | 3.9 (1.6-9.3) |

Missense (p16 and p14)^{∥} | 5^{¶} | 13^{¶} | 8.7 (2.9-26.5) |

Missense (p14 only)** | 3 | 1 | 0.7 (0.1-6.8) |

Noncoding transcriptional change^{††} | 2 | 7 | 15.3 (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).