Patient characteristics, malignancies, and BRCA2 mutations
| Pt ID | Phenotype | Sex | Cancer (age, years) | Allele 1† | Allele 2† | Interpretation 1 | Interpretation 2 | Reference |
|---|---|---|---|---|---|---|---|---|
| ALL, acute lymphoblastic leukaemia; AML, acute myelogenous leukaemia; CNS, central nervous system; N/A, not available. | ||||||||
| 1A and 1B were second cousins once removed; K1S1 – K1S2, K2S1 – K2S2, 632/1 – 632/2, 800/1 – 800/2 and RB - CB were sib pairs. | ||||||||
| *VATER association includes vertebral anomalies, anal atresia, tracheoesophageal fistula with oesophageal atresia, and abnormal radii. VACTERL adds cardiac, renal and limb anomalies. VACTERL-H includes hydrocephalus. In cases without VATER there may have been incomplete reporting of the physical features. | ||||||||
| †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. | ||||||||
| ‡R2336H (7235G→A) is classified as a missense mutation. It alters the last “G” nucleotide in exon 13 of BRCA2. In addition to altering this codon, mutation of this G to A could alter splicing. | ||||||||
| HSC62 | Abnormal thumb | M | None (30) | IVS19-1 G →A | IVS19-1 G →A | Probably deleterious | Probably deleterious | 7 |
| EUFA423 | Pigmented, abnormal thumb | F | Brain (3) | 7691/insAT [R2488fs] | 9900/insA | Deleterious | Deleterious | |
| HSC230 | Pigmented, abnormal thumb | M | None (2) | 3033/delAAAC | 10204A →T [K3326X] | Deleterious | Benign | |
| EUFA579 | Pigmented, abnormal thumb | F | AML | 7235G →A [R2336H]‡ | 5837TC →AG [F1870X] | Unknown | Deleterious | |
| AP37P | Short, pigmented, café au lait, abnormal thumb, Sprengel, midface hypoplasia | M | AML M2 (2) | 8415G →T [K2729N] | 8732C →A [S2835X] | Unknown | Deleterious | 7, 16 |
| 1A | Short, café-au-lait, pigmented, abnormal thumbs and radii, microcephaly, imperforate anus, epicanthal folds, micropenis, undescended testes, dislocated hips, hydronephrosis, abnormal hearing (VATER*) | M | Brain—medulloblastoma or astrocytoma (4.9) | 6174delT | 9435T →A [C3069X] | Deleterious | Deleterious | 17, 18 |
| 1B | Short, abnormal thumbs, microcephaly, imperforate anus with rectovaginal fistula, slanted eyes, anomalous kidneys, small ear, hip dysplasia (VATER*) | F | Brain—astrocytoma (2) | 6174delT | 9435T →A [C3069X] | Deleterious | Deleterious | |
| 2 | No exam reported | F | Brain—medulloblastoma (4.5) | 6174delT | 886delGT | Deleterious | Deleterious | 17 |
| 3 | No exam reported | F | Brain—medulloblastoma (2.5) | 5301insA | 7690T →C [I2490T] | Deleterious | Unknown | |
| 4 | No exam reported | F | Brain—medulloblastoma (3.5) | 4150G →T [E1308X] | 9424C →T [Q3066X] | Deleterious | Deleterious | |
| K1S1 | Café au lait, microcephaly, cardiac | M | Brain—medulloblastoma (2.3) | 886delGT | 8447T →A [L2740X] | Deleterious | Deleterious | 19 |
| K1S2 | Café au lait, abnormal facies, epicanthus | M | Wilms’ (1.3), Brain—medulloblastoma (4.3) | 886delGT | 8447T →A [L2740X] | Deleterious | Deleterious | |
| K2S1 | Short, microcephaly | M | Wilms’ (0.5), AML (2) | 4876G →T [E1550X] | 7757T →C [L2510P] | Deleterious | Unknown | |
| K2S2 | Short, pigmented, bifid thumb, elfin facies, small palpebral fissures | F | T-ALL (4.9) | 4876G →T [E1550X] | 7757T →C [L2510P] | Deleterious | Unknown | |
| 129/1 | Short, café au lait, microcephaly, imperforate anus | N/A | AML (2.2) | IVS7+2T →G | IVS7+2T →G | Probably deleterious | Probably deleterious | 20, 21 |
| 357/1 | Short, thumb, imperforate anus | N/A | AML (1.9) | 8106G →C [W2626C] | 2041insA | Unknown | Deleterious | |
| 632/1 | Short, café au lait, dysplastic hips, pelvic kidney | F | AML (3) | IVS7+1G →A | 5910C →G [Y1894X] | Probably deleterious | Deleterious | |
| 632/2 | Short, imperforate anus, hypoplastic thumb | F | AML (1.8) | IVS7+1G →A | 5910C →G [Y1894X] | Probably deleterious | Deleterious | |
| 800/1 | Short, café au lait, microcephaly, micropenis | M | AML (0.9) | IVS7+2T →G | 5164del4 | Probably deleterious | Deleterious | |
| 800/2 | Short, café au lait, microcephaly | M | Wilms’ (0.8) | IVS7+2T →G | 5164del4 | Probably deleterious | Deleterious | |
| 900/1 | Short, café au lait | M | T-ALL (5.2) | 2816insA | 1342C →A [N372H] | Deleterious | Benign | |
| 984/2 | Short, microcephaly, hypoplastic thumb, labial adhesions, patent foramen ovale, CNS venous anomaly | F | T-ALL (4.9), AML (6.3), Wilms’ (6.6) | N/A | N/A | N/A | N/A | |
| RB | Short, pigmented, café au lait, microcephaly, cryptorchidism | M | Wilms’ (3.5), Brain—glioblastoma multiforme (9) | 886delTG | 5873C →A [S1882X] | Deleterious | Deleterious | 21 |
| CB | Pigmented, café au lait | M | Wilms’ (0.6), Brain—medulloblastoma (6), B-ALL (10) | 886DelTG | 5873C →A [S1882X] | Deleterious | Deleterious | |
| SB1690CB | Hypermobile thumb, microcephaly, imperforate anus, deaf, renal dysplasia, midfacial hypoplasia (VATER*) | M | AML (2.1) | IVS7+2T →G | 3827delGT | Probably deleterious | Deleterious | 23 |
| PT2 | Short, pigmented, café au lait, adducted thumbs, microcephaly, sacral hemivertebra, ventricular septal defect, pelvic kidney, oesophageal atresia, micrognathia, CNS gyrations, congenital cataract (VATER*) | F | Wilms’ (1), neuroblastoma (1.1), Brain—posterior fossa (3) | 1548del4 | 1548del4 | Deleterious | Deleterious | 24 |
| NCI 1 | Short, café au lait, microcephaly, facial dysmorphia, abnormal thumbs, anterior anus, cloudy corneas, ectopic kidneys, delayed development, hydrocephaly (VATER*) | F | Brain—medulloblastoma (3.1) | 6174delT | 9424C →T [Q3066X] | Deleterious | Deleterious | Current report |