Diagnosis (age)
|
Gene/
transcript
|
Chromosomal position in bp (hg19)
|
Chromosomal position in bp (hg19)
|
Nucleotide /aminoacid change
|
Category
|
Zygosity
|
Origin
|
Clinical signs/Comments
|
Neuroblastoma
(1 month)
|
|
|
|
|
|
|
|
|
NM_000059.3 |
chr13
g.32914515
|
c.6024dup
p.Gln2009Alafs*9
A/AG
|
c.6024dup
p.Gln2009Alafs*9
A/AG
|
Pathogenic |
Heterozygous |
Mother |
Family history of breast
cancer |
|
Wilms Tumor
(22 y)
|
|
|
|
|
|
|
|
|
NM_004484.3 |
chrX
g.132838281
|
c.1033-4225G>A
T/T
|
c.1033-4225G>A
T/T
|
Likely Pathogenic |
Heterozygous |
Mother |
|
|
Schwannoma (6y) |
FANCL |
chr2 : 58386860-58390670 |
9-14 Exon deletion |
9-14 Exon deletion |
Pathogenic |
Heterozygous |
|
Presented as well in the tumor and detected by MLPA |
Glial neuroepitelial Brain Tumor (2 y) |
|
|
|
|
|
|
|
|
NM_004656.3 |
chr3
g.52438516_52438518
|
c.1201_1203delinsGAG
p.Tyr401Glu
|
c.1201_1203delinsGAG
p.Tyr401Glu
|
VUS |
Heterozygous |
Father |
Presented as well in the tumor. BCOR
mutation in the tumor |
|
Neuroblastoma
(18 months)
|
|
|
|
|
|
|
|
|
NM_006218.3 |
chr3
g.178916677
|
c.64G>A
p.Val22Ile
|
c.64G>A
p.Val22Ile
|
VUS |
Heterozygous |
Father |
ALK mutation in tumor |
|
Neuroblastoma
(15 months)
|
|
|
|
|
|
|
|
|
NM_004304.4 |
chr2
g.29498276
|
c.1904A>G
p.Tyr635Cys
|
c.1904A>G
p.Tyr635Cys
|
VUS |
Heterozygous |
Mother |
|
|
Rhabdomyosarcoma
(6 y)
|
|
|
|
|
|
|
|
|
NM_000076.2 |
chr11
g.2906145
|
c.575C>G
p.Pro192Arg
|
c.575C>G
p.Pro192Arg
|
VUS |
Heterozygous |
De novo |
|
|
Neuroblastoma
(7 months)
|
|
|
|
|
|
|
|
|
NM_002524.5 |
chr1
g.115252309
|
c.331A>G
p.Met111Val
|
c.331A>G
p.Met111Val
|
VUS |
Heterozygous |
Father |
|
|
Wilms Tumor
(13 months)
|
REST
NM_001193508.1
|
chr4
g.57796160
|
c.1136A>G
p.His379Arg
|
c.1136A>G
p.His379Arg
|
VUS |
Heterozygous |
Father |
|