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Table 2 Characterization of TP53 variants identified in index cases of French Canadian HBC/HBOC families

From: Germline TP53 mutational spectrum in French Canadians with breast cancer

Genotype alteration Amino acid codon alteration Genetic location of variant Variant genotype designation Distribution of variant genotypes identified in French Canadian index cases 1 Variant allele frequencies identified in French Canadian index cases (%) General population of variant allele frequencies 2 (%) Source of general population variant allele frequencies 2
AA AB BB A A% B B% A% B%
c.1-140G>A   intron 1 rs8079544 35 1 0 71 98.6 1 1.4 94.6 5.5 A
c.74+38C>G   intron 2 rs1642785 3 12 21 18 25.0 54 75.0 26.0 74.0 B
c.96+41_96+56del16   intron 3 rs17878362 24 11 1 59 81.9 13 18.1 79.5 20.5 B
c.97-29C>A   intron 3 rs17883323 35 1 0 71 98.6 1 1.4 94.8 5.2 B
c.108G>A p.Pro36Pro exon 4 rs1800370 34 2 0 70 97.2 2 2.8 98.5 1.5 B
c.215G>C p.Arg72Pro exon 4 rs1042522 21 12 3 54 75.0 18 25.0 78.3 21.7 A
c.376-91G>A   intron 4 rs2909430 0 7 17 7 14.6 41 85.4 9.9 90.1 A
c.639A>G p.Arg213Arg exon 6 rs1800372 33 3 0 69 95.8 3 4.2 98.1 1.9 B
c.672+62A>G   intron 6 rs1625895 1 9 26 11 15.3 61 84.7 10.3 89.7 A
c.673-36G>C   intron 6 rs17880604 35 1 0 71 98.6 1 1.4 98.4 1.6 B
c.782+72C>T   intron 7 rs12947788 30 6 0 66 91.7 6 8.3 - - -
c.782+92T>G   intron 7 rs12951053 30 6 0 66 91.7 6 8.3 92.4 7.6 A
c.993+12T>C   intron 9 rs1800899 35 1 0 71 98.6 1 1.4 98.5 1.5 B
c.1100+30A>T   intron 10 rs17880847 35 1 0 71 98.6 1 1.4 98.5 1.5 B
  1. 1Genotypes were not available (not included) for the index case screened in the hereditary cancer clinic; 2Population based allele frequencies from Hap Map CEU (A) (http://hapmap.ncbi.nlm.nih.gov/) or Exome Variant Server - European Americans (B) (http://evs.gs.washington.edu/EVS/); Population frequency was not known for rs12947788.
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