TABLE 3.

BARD1 gene exon and promoter region mutation results

SNP sites in breast cancer group	SNP sites in control group	Nucleotide substitution	Location	Amino acid	Type of mutation
rs1048108	rs1048108	c.70C > T	EXON1	Pro24Ser	M
rs2070096	—	c.1053G > C	EXON4	Thr351Thr	S
rs28997575	rs28997575	c.1075_1095del	EXON4	Leu359_Pro365del	Del
rs2229571	rs2229571	c.1134G > C	EXON4	Arg378Ser	M
rs2070093	—	c.1518T > C	EXON6	His506His	S
rs2070094	rs2070094	c.1519G > A	EXON6	Val507Met	M
rs3738888	rs3738888	c.1972C > T	EXON10	Arg658Cys	M

(1) For the 60 cases of blood samples of breast cancer, the first‐order sequencing method was used to sequence the exons and promoter regions of the BARD1 gene. (2) According to the principle of mutual substitution of tag sites, the high frequency sites were selected from the breast cancer groups. The SNaPshot typing was used to detect the above sites in 240 healthy female blood samples.

Abbreviations: Del, deletion mutation; M, missense mutation; S, synonymous mutation.