Table 1 Genetic classification of MDS/AML families.
From: The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
Group | Description | Genes | Number of families | |
|---|---|---|---|---|
Group 1 | Families with variants in known genes | High level of evidence for gene–disease association | ANKRD26, CEBPA, DDX41, ETV6, GATA2, RUNX1, TERC, TERT, TP53 | 39 (45%) |
Moderate level of evidence for gene–disease association | ACD, CHEK2, RTEL1, SAMD9, SAMD9L, SRP72 | 4 (5%) | ||
Genes emerging from basic research or mutated in other inherited hematological syndromes with high risk of MDS/AML | ATG2B/GSKIP, ERCC6L2, FANC genes, MBD4, MECOM, SBDS, WAS | 6 (7%) | ||
Group 2 | Families where the specific gene variants have not been established | Unknown | 37 (43%) | |
