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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