ORPHA: 182067, 360;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 13q13.1 | {Glioblastoma 3} | 613029 | Autosomal recessive | 3 | BRCA2 | 600185 |
A number sign (#) is used with this entry because glioma can present as part of a tumor predisposition syndrome caused by germline mutation in the BRCA2 gene (600185) on chromosome 13q13.
For a general phenotypic description and a discussion of genetic heterogeneity of glioma, see GLM1 (137800).
Reid et al. (2005) reported a family in which 2 brothers developed Wilms tumors and brain tumors. The older son came to attention when cryptorchidism was corrected at 2 years of age, at which time he was below the 3rd centile for height, weight, and head circumference and had hypo- and hyperpigmented areas and a few cafe-au-lait spots. At age 3 years a stage 3 Wilms tumor was removed. At 9 years of age he developed seizures, and glioblastoma multiforme was detected. The second son had normal growth but similar pigmentation, had a stage 1 Wilms tumor removed at 7 months of age. He later developed medulloblastoma, which was treated with radiotherapy but relapsed, and pre-B-cell acute lymphoblastic leukemia.
In 2 brothers who each developed Wilms tumor and brain tumors, one of which was glioblastoma multiforme, Reid et al. (2005) detected compound heterozygosity for mutations in the BRCA2 gene. The paternal allele carried a deletion in exon 8 (886delTG; 600185.0027), and the maternal allele a nonsense mutation in exon 11 (S1882X; 600185.0031).
Alter et al. (2007) included the 868delTG mutation in an analysis of the clinical and molecular features associated with the BRCA2 mutations identified in FANCD1 (605724) patients.
Alter, B. P., Rosenberg, P. S., Brody, L. C. Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. J. Med. Genet. 44: 1-9, 2007. [PubMed: 16825431] [Full Text: https://doi.org/10.1136/jmg.2006.043257]
Reid, S., Renwick, A., Seal, S., Baskcomb, L., Barfoot, R., Jayatilake, H., The Breast Cancer Susceptibility Collaboration (UK), Pritchard-Jones, K., Stratton, M. R., Ridolfi-Luthy, A., Rahman, N. Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. (Letter) J. Med. Genet. 42: 147-151, 2005. [PubMed: 15689453] [Full Text: https://doi.org/10.1136/jmg.2004.022673]