Table 2 Genetic alterations of the MDM4 gene in 40 German patients with familial breast cancer. Survey of genetic alterations of the MDM4 gene identified in 40 patients with familial breast cancer. Mutations were designated according to the improved mutation nomenclature recommended by the Human Genome Variation Society [50]. Het, heterozygous; hom, homozygous. Variants c.-103T>C and c.222A>T were identified in the same three individuals. The three SNPs c.672+28C>T, c.823-62T>C and c.903+20G>A were identified in the same 19 individuals, with 17 of them also carrying c.*+32A>C.
From: Mutation analysis of the MDM4gene in German breast cancer patients
Location | Nucleotide change | Codon | No. of carriers (frequency) | NCBI database | ||
|---|---|---|---|---|---|---|
het | hom | total | ||||
5'-UTR | c.-103T>C | none | 3 (.08) | - | 3 (.08) | rs4252668 |
Exon 4 | c.222A>T | Val74Val | 3 (.08) | - | 3 (.08) | not listed |
Intron 5 | c.343+9C>T | none | 12 (.30) | 1 (.03) | 13 (.33) | rs4252697 |
Exon 7 | c.458A>G | Asp153Gly | 1 (.03) | - | 1 (.03) | not listed |
Intron 8 | c.672+28C>T | none | 19 (.48) | - | 19 (.48) | rs4252717 |
Intron 9 | c.823-62T>C | none | 19 (.48) | - | 19 (.48) | rs2290855 |
Intron 10 | c.903+20G>A | none | 19 (.48) | - | 19 (.48) | rs2290854 |
3'-UTR | c.*+32A>C | none | 17 (.43) | - | 17 (.43) | rs4245739 |