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. Author manuscript; available in PMC: 2021 Feb 1.
Published in final edited form as: Pediatr Blood Cancer. 2019 Nov 17;67(2):e28047. doi: 10.1002/pbc.28047

Table 1:

Prevalence of pathogenic/likely pathogenic variants in cancer predisposition genes among adult survivors of childhood cancer participating in the SJLIFE study and in the US populationa

CHARACTERISTICb US SJLIFE Cancer-related genes (SJCPG156)c Cancer predisposition genes (SJCPG60)d
SJLIFE SJLIFE US SJLIFE SJLIFE US
No. of survivors No. of survivorse No. of survivors with P/LP variants % P/LP variant carriers No. of survivors with P/LP variantsg No. of survivors with P/LP variants % P/LP variant carriers No. of survivors with P/LP variantsg
SEX
 Male 89100 1276 144 11.3 11100 79 6.7 6300
 Female 82200 1174 145 12.4 10700 70 5.5 6200
AGE AT DIAGNOSIS
 0–4 years 72300 1104 159 14.4 10500 96 8.7 6800
 5–9 years 45300 674 67 9.9 5200 25 3.7 2700
 10–14 years 53700 672 63 9.4 6100 28 4.2 3000
CURRENT AGE
 18–29 years 68900 797 98 12.3 8600 59 7.4 4900
 30–39 years 49200 936 102 10.9 6200 54 5.8 3500
 40–49 years 29200 552 70 12.7 3700 33 6.0 2100
 50–59 years 18000 158 18 11.4 2500 3 1.0 1600
 ≥60 years 6000 7 1 14.3 730 0 0 400
DIAGNOSIS
Leukemias, & myeloproliferative & myelodysplastic diseases 49500 934 92 9.93 52200 31 3.3 2200
 Lymphoid leukemia 42800 874 87 10.0 4300 28 3.2 1400
 Acute myeloid leukemia 4000 56 4 7.1 300 2 3.6 100
 Other leukemia 2700 4 1 25.0 700 1 25.0 700
Lymphoma & reticuloendothelial neoplasms 21900 385 35 9.1 2000 12 3.1 700
 Hodgkin lymphoma 10200 200 17 8.5 900 4 2.0 200
 Non-Hodgkin lymphomaf 11700 185 18 9.7 1100 8 4.3 500
 CNS & intraspinal neoplasms 30200 285 42 14.7 4300 28 9.8 2900
 Ependymoma & choroid plexus 1900 39 5 12.8 200 2 5.1 100
 Astrocytoma 18000 89 9 10.1 1800 4 4.5 800
 Medulloblastoma/PNET 4800 76 8 10.5 500 5 6.6 300
 Other glioma 4700 45 16 35.6 1700 16 35.6 1700
 Other CNS 600 36 4 11.1 <100 1 2.8 <100
 Neuroblastoma & peripheral nervous system tumors 11000 152 11 7.2 800 6 3.9 400
 Retinoblastoma 7100 90 44 48.9 3500 42 46.7 3300
 Renal tumors 13000 209 26 12.4 1600 12 5.7 700
 Hepatic tumors 1400 17 2 11.8 200 2 11.8 200
 Bone tumors 6700 119 11 9.2 600 3 2.5 200
 Osteosarcoma 3700 72 9 12.5 500 2 2.8 100
 Ewings sarcoma 2200 43 2 4.7 100 1 2.3 100
 Other bone tumors 800 4 0 0.0 0 0 0.0 0
Soft tissue & extraosseous sarcomas 12600 153 13 8.5 1000 8 5.2 700
Germ cell tumors, trophoblastic tumors & neoplasms of the gonads 6900 66 7 10.6 700 2 3.0 200
Epithelial neoplasms & melanomas 10600 39 5 12.8 1400 2 5.1 500
Other & unspecified malignant neoplasmsh 500 1 1 100.0 500 1 100.0 500
TOTAL 171300 2450 289 11.8 21800 149 6.1 12500
a.

The US childhood cancer survivor population was estimated from SEER data for adult survivors (≥18 years of age) diagnosed between 1960 and 2006 before 15 years of age, who were more than 10 years post diagnosis, and alive on December 31, 2016.

b.

Cancer diagnoses were categorized according to the International Classification of Childhood Cancer (ICCC) scheme5

c.

SJCPG156 - 156 genes related to cancer predisposition were selected for analysis and included genes with well-established associations with monogenic cancer risk inherited in an autosomal dominant fashion, genes with autosomal recessive or X-linked inheritance, somatic mosaicism and genes in which common variants increase cancer risk

d.

SJCPG60 - 60 genes with well-established associations with monogenic cancer risk inherited in an autosomal dominant fashion at moderate to high penetrance were included in analyses. These 60 genes are a subset of the SJCPG156

e.

All survivors who were variant carriers were counted in analyses regardless of whether their primary (or subsequent) cancer diagnosis was considered concordant with their particular gene variant.

f.

Includes ICD-O categories of non-Hodgkin lymphoma, Burkitt lymphoma, miscellaneous lymphoreticular neoplasms and unspecified lymphoma.

g.

The P/LP carrier percentages were from SJLIFE and were multiplied to the estimates of US survivor counts within each diagnosis subgroup to obtain the estimates of US survivors in the subgroup who carry a P/LP mutation. Therefore, their values stratified by sex, age at diagnosis current age, and group of diagnosis subgroups do not necessarily match with those of the US survivors.

h.

The single SJLIFE survivor had a diagnosis of pleuropulmonary blastoma and a mutation in DICER1

No.=numbers