Patient malignancies and BRCA2 mutations
| Patient no. ID . | Cancer (age, y) . | Allele 1 . | Allele 2 . | References . |
|---|---|---|---|---|
| EUFA579 | AML | 7235G > A (p.R2336H)* | 5837TC > AG (p.F1807X) | 1,15 |
| AP37P | AML M2 (2) | 8415G > T (p.K2729N)* | 8732C > A (p.S2835X) | 1,15,16 |
| 3 | Brain (2.5) | 5301insA | 7690T > C (p.1249T)* | 1,17 |
| K2S1 | Wilms (0.5), AML (2) | 4876G > T (p.E1550X) | 7757T > C (p.L2510P)* | 1,18 |
| K2S2 | T-ALL (4.9) | 4876G > T (p.E1550X) | 7757T > C (p.L2510P)* | 1,18 |
| 129/1 | AML (2.2) | IVS7 + 2T > G* | IVS7 + 2T > G* | 1,19,20 |
| 357/1 | AML (1.9) | 8106G > C (p.W2626C) | 2041insA | 1,19 |
| 800/1 | AML (0.9) | IVS7 + 2T > G* | 5164del4 | 1,19 |
| 800/2 | Wilms (0.8) | IVS7 + 2T > G* | 5164del4 | 1,19 |
| SB1685CB | AML (2.1) | IVS7 + 2T > G* | 3827delGT | 1,21 |
| Patient no. ID . | Cancer (age, y) . | Allele 1 . | Allele 2 . | References . |
|---|---|---|---|---|
| EUFA579 | AML | 7235G > A (p.R2336H)* | 5837TC > AG (p.F1807X) | 1,15 |
| AP37P | AML M2 (2) | 8415G > T (p.K2729N)* | 8732C > A (p.S2835X) | 1,15,16 |
| 3 | Brain (2.5) | 5301insA | 7690T > C (p.1249T)* | 1,17 |
| K2S1 | Wilms (0.5), AML (2) | 4876G > T (p.E1550X) | 7757T > C (p.L2510P)* | 1,18 |
| K2S2 | T-ALL (4.9) | 4876G > T (p.E1550X) | 7757T > C (p.L2510P)* | 1,18 |
| 129/1 | AML (2.2) | IVS7 + 2T > G* | IVS7 + 2T > G* | 1,19,20 |
| 357/1 | AML (1.9) | 8106G > C (p.W2626C) | 2041insA | 1,19 |
| 800/1 | AML (0.9) | IVS7 + 2T > G* | 5164del4 | 1,19 |
| 800/2 | Wilms (0.8) | IVS7 + 2T > G* | 5164del4 | 1,19 |
| SB1685CB | AML (2.1) | IVS7 + 2T > G* | 3827delGT | 1,21 |
Alleles are shown as nucleotide changes. Where the change results in a missense or nonsense mutation, the resulting (amino acid) change is indicated below the nucleotide.
ALL indicates acute lymphoblastic leukemia.
Missense mutation.