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

Table 2 Germline TP53 sequence variants identified

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

Mutation classification was made based on known databases or published studies.
¹Reported in IARC TP53 database [18]. ²Ariffin et al., 2008 [19]. IVS, intervening sequence

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