Table 3.
Overview of prioritized variants of unknown significance (VUS) potentially associated with cancer predisposition identified in the patient cohort.
| Case; Diagnosis | Gene/transcript | Chromosomal position in bp (hg19) | Nucleotide change/ amino acid change | Zygosity | Inheritance | Clinical signs |
|---|---|---|---|---|---|---|
|
Case-32; HL |
NBN ENST00000265433.3 |
NC_000008.10:g.90983442_90983446del |
c.657_661del p.(Lys219Asnfs*16) |
heterozygous | Transmitted by mother | None |
|
Case-37; B-ALL |
HOXB13 ENST00000290295.7 |
NC_000017.10:g.46805705C>T |
c.251G>A p.(Gly84Glu) |
heterozygous | Transmitted by father | None |
|
Case-40; AML |
BRIP1 ENST00000259008.2 |
NC_000017.10:g.59761412_59761415del |
c.2992_2995del p.(Lys998Glufs*60) |
heterozygous | Transmitted by father | None |
|
Case-52; OS |
CHEK2 ENST00000328354.6 |
NC_000022.10:g.29121228T>C |
LRG_302t1:c.444+3A>G; Splicing |
heterozygous | Transmitted by mother | 1 |
|
Case-89; RMS |
CHEK2 ENST00000328354.6 |
NC_000022.10:g.29121087A>G |
c.470T>C; p.(Ile157Thr) |
heterozygous | Transmitted by father | None |
|
Case-96; NB |
CHEK2 ENST00000328354.6 |
NC_000022.10:g.29091178C>A |
c.1312G>T; p.(Asp438Tyr) |
heterozygous | Transmitted by father | None |
|
Case-102; B-ALL |
NBN ENST00000265433.3 |
NC_000008.10:g.90990521T>C |
c.511A>G p.(Ile171Val) |
heterozygous | Transmitted by mother | None |
|
Case-109; B-ALL |
CHEK2 ENST00000328354.6 |
NC_000022.10:g.29121087A>G |
c.470T>C; p.(Ile157Thr) |
heterozygous | Transmitted by mother | None |
|
Case-132; MB |
FANCA ENST00000389301.3 |
NC_000016.9:g.89831438G>A |
c.2638C>T p.(Arg880*) |
heterozygous | Transmitted by father | None |
|
Case-142; B-ALL |
CHEK2 ENST00000328354.6 |
NC_000022.10:g.:29121230 C>T |
LRG_302t1:c.444+1G>A; Splicing |
heterozygous | Transmitted by father | None |
|
Case-146; B-ALL |
CHEK2 ENST00000328354.6 |
NC_000022.10:g.chr22:29099499del |
c.902del; p.(Leu301Trpfs*3) |
heterozygous | Transmitted by father | None |
Diagnosis diagnosis of initial cancer disease, AML acute myeloid leukemia, B-ALL B-cell acute lymphoblastic leukemia, HL Hodgkin lymphoma, MB medulloblastoma, NB neuroblastoma, OS osteosarcoma, RMS rhabdomyosarcoma, Clinical signs number of clinical signs indicating a cancer predisposition.