Table 1 Genotypes and tumor types of 13 patients with CREBBP variants who have RSTS co-morbidities and malignant tumors
From: Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review
Malignant Neoplasm | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | Patient 9 | Patient 10 | Patient 11 | Patient 12 | Patient 13 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Tumor site | Neurological | Hematological | Gastroenterology | Hepatology | Respiratory | Breast | Genital | ||||||
Tumour types | Medulloblastoma | Neuroblastoma | Ganglioneuroblastoma | lymphoblastic leukemia | Lymphoma | Colon carcinoma | Hepatoblastoma | Lung carcinoma | Breast adenocarcinoma | Germ cell tumor testis | |||
Gender | M | M | M | M | F | M | F | F | M | F | F | F | M |
Age at evaluation | 9 Y | newborn | 1 Y | 10 Month | 6 Y | 57 Y | 34 Y | 28 Y | 58 Y | 4 Y | 34 Y | 31 Y | 5 Month |
Variants | c.1941 + 3 A > T | c.605dup | c.1068del | c.2469_2470del | c.4442 A > G | c.4837delG | c.2842 C > T | deletion exon 22 to exon 23 | c.4561–2 A > G | c.4650_4654delAGAGA | Microdeletion | Microdeletion | c.1824-1G > A |
Predicted protein effect | / | p.Gln203fs | p.Gln356Hisfs*33 | p.Gln823Hisfs*8 | p.Asp1481Gly | p.Val1613Cysfs*22 | p.Gln948* | / | / | p.Glu1551Hisfs*2 | / | / | / |
References | [3] | [5] | Present study | [9] | [11] | [3] | [12] | [13] | [3] | [14] | [3] | [3] | [15] |