Table 2 Germline pathogenic/likely pathogenic variants identified in Korean ALL patients.
From: Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients
Patients | Sex/age | Diagnosis | Gene | Accession | Nucleotide | Amino acid | %Variant | dbSNP | Syndrome | Inheritance |
|---|---|---|---|---|---|---|---|---|---|---|
ALL0009 | Female/51 | B-ALL, NOS | TP53 | NM_000546.5 | c.733G > A | p.Gly245Ser | 40.3 | rs28934575 | Li-Fraumeni syndrome | Autosomal dominant |
ALL0067 | Male/18 | B-ALL, NOS | CASP10* | NM_032977.3 | – | – | – | – | Autoimmune lymphoproliferative syndrome, type II | Autosomal dominant |
