Table 2 Diagnosis distribution of LCCG cohort including subgroups with corresponding germline mutations.

From: Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients

Group #

Diagnosis

nA

Diagnosis Subgroup

nB

nMutC

Germline Mutations

1

Leukemia

262

ALL

219

2

BRCA2, TP53

AML

37

2

PMS2, PALB2

Other

6

0

na

2

CNS_tumor

149

Astrocytoma

61

4

2 × BRCA2, PMS2, NF1

Ependyoma

14

0

na

Medulloblastoma

25

0

na

Ganglioma

6

0

na

Craniopharyngioma

6

0

na

Opticusglioma

9

3

3 × NF1

Other_Brain_tumor

28

1

NF1

3 & 9

Lymphoma

133

NHL

56

2

APC, BRCA1

Hodgkin's_lymphoma

58

0

na

Histiocytosis

19

0

na

4

Wilms'_tumor

59

Wilms'_tumor

59

2

BRCA2, SDHA

5

Soft-tissue_Sarcoma

56

Non-rhabdomyosarcoma

16

1

TP53

Rhabdomyosarcoma_Embryonal

30

1

TP53

Rhabdomyosarcoma_Alveolar

7

0

na

Rhabdomyosarcoma_Unspecified

3

1

NF1

6

Neuroblastoma

36

Neuroblastoma

36

3

BRCA1, PTCH1, NF1

7

Germ-cell_tumor

14

Germ-cell_tumor

14

0

na

8

Bone_tumor

58

Osteosarcoma

22

2

2 × TP53

Ewing_sarcoma

36

0

na

10

Retinoblastoma

5

Retinoblastoma

5

3

3 × RB1

11

Carcinoma

6

ACT

1

1

TP53

Other Carcinoma

5

0

na

12

Hepatic_tumor

9

Hepatoblastoma

9

1

SDHA

13

Other

3

Other

3

1

NF1

  1. ALL acute lymphoblastic leukemia, AML acute myeloid leukemia, NHL non-Hodgkin's lymphoma.
  2. ANumber of patients within each main diagnosis group.
  3. BNumber of patients in each diagnosis subgroup.
  4. CNumber of (likely) pathogenic mutations.