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Table 2 Germline TP53 sequence variants identified

From: Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients

No Exon Nucleotide change Amino acid change Mutation classification Previously reported? No. of cases
(n= 83)
Pathogenicity Ethnicity
1 10 c. 1036G > T p. E346X Nonsense Yes1 1 Deleterious Malay
2 10 c. 1001_1006dup6 p. G334_R335dup Duplication Yes2 1 Likely deleterious Malay
3 5 c. 413C > T p. A138V Missense Yes1 1 Likely deleterious Chinese
4 8 c. 853G > A p. E285K Missense Yes1 2 Likely deleterious Chinese
5 Intron 2 c. 74+14T > C - IVS Novel 2 Likely benign Chinese
6 Intron 3 c. 97-28T > A - IVS Novel 1 Unknown Chinese
7 Intron 6 c. 672+18G > C - IVS Yes1 1 Likely benign Malay
  1. Mutation classification was made based on known databases or published studies.
  2. 1Reported in IARC TP53 database [18]. 2Ariffin et al., 2008 [19]. IVS, intervening sequence