Table 1.

RRs of nonmelanoma cancer for proven and implied carriers and noncarriers

SiteInternational Classification of Diseases codeProven carriers
Proven and implied carriers
ObservedExpectedRR (95% CI)ObservedExpectedRR (95% CI)
Bone17000.020 (0-184)00.040 (0-92.2)
Female breast17432.011.5 (0.3-4.4)6.32.952.1 (0.7-4.9)
Digestive150-156, 158-15961.623.7 (1.4-8.1)8.12.972.7 (1.2-5.8)
Eye/brain*190-19120.1811.4 (1.3-40.1)3.40.311.4 (2.1-34.1)
Female genital180-18440.775.2 (1.4-13.3)41.153.5 (0.9-10.1)
Hematologic201, 203-20600.620 (0-5.9)01.10 (0-3.4)
Lip, mouth, pharynx140-14930.1915.5 (3.3-46.1)3.70.3510.8 (1.8-29.3)
Male genital185-18710.392.6 (0.1-14.3)1.30.971.4 (0-7.4)
Pancreas (melanoma penetrance only)15790.1947.9 (21.7-90.0)15.90.3446.6 (24.7-76.4)
Pancreas (melanoma and pancreatic penetrance)15790.1947.9 (21.7-90.0)21.90.4647.8 (28.4-74.7)
Respiratory160-16361.234.9 (1.8-10.6)13.92.445.7 (2.8-9.6)
Nonmelanoma skin173100.2737 (17.8-68.1)12.10.5422.3 (11.5-41.2)
Soft tissue17100.020 (0-184)10.0331 (0.8-240.8)
Thyroid193-19400.070 (0-52.7)00.110 (0-33.5)
Unknown19910.412.5 (0.1-13.6)20.742.7 (0.3-11.8)
Urinary188-18900.460 (0-8.0)1.40.891.6 (0-8.1)
All cancers458.595.2 (3.8-7.0)75.315.045 (3.9-6.3)
All except nonmelanoma skin cancer358.324.2 (2.9-5.9)63.214.54.4 (3.3-5.6)
SiteInternational Classification of Diseases CodeProven noncarriers
Proven and implied noncarriers


Observed
Expected
RR (95% CI)
Observed
Expected
RR (95% CI)
Bone17000.110.0 (0.0-27.0)00.180 (0-20.5)
Female breast17436.850.4 (0.1-1.5)4.78.780.5 (0.1-1.3)
Digestive150-156, 158-15948.110.5 (0.1-1.4)6.910.970.6 (0.2-1.3)
Eye/brain190-19110.821.2 (0-8.8)0.61.250.5 (0-5.8)
Female genital180-18402.620.0 (0-2.1)03.40 (0-1.1)
Hematologic201, 203-20603.040.0 (0-1.1)04.360 (0-0.8)
Lip, mouth, pharynx140-14900.990.0 (0-3.4)1.31.351 (0-5.4)
Male genital185-18713.670.3 (0-2.1)2.75.120.5 (0-1.7)
Pancreas (melanoma penetrance only)15700.920.0 (0-3.2)6.11.244.9 (1.8-11.6)
Pancreas (melanoma and pancreatic penetrance)15700.920.0 (0-3.2)0.11.120.1 (0-4.6)
Respiratory160-16317.840.1 (0-0.9)7.110.670.7 (0.3-1.5)
Nonmelanoma skin173111.646.7 (3.3-12.8)12.92.255.7 (2.8-9.9)
Soft tissue17100.800.0 (0-3.8)00.120 (0-30.7)
Thyroid193-19420.316.5 (0.8-28.3)20.454.5 (0.5-19.5)
Unknown19902.060.0 (0-1.5)02.810 (0-1.3)
Urinary188-18912.660.4 (0-2.7)1.63.640.4 (0-2)
All cancers2442.00.6 (0.4-0.9)46.756.860.8 (0.6-1.1)
All except nonmelanoma skin cancer1340.360.3 (0.2-0.6)33.854.610.6 (0.4-0.9)
All except nonmelanoma skin cancer and pancreatic cancer1339.380.3 (0.2-0.6)27.753.370.5 (0.3-0.8)
  • NOTE: Proven carriers are persons shown to carry the p16-Leiden mutation; proven noncarriers have been shown not to carry the mutation; all other individuals are assessed for their carrier status by segregation analysis of the p16-Leiden mutation.

  • * Brain tumors and one uveal melanoma diagnosis.

  • Brain tumor.