Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population

Table 2

Five recurrent variants of BRCA1/2 in validation stages.

Gene	Nucleotide change	Validation stage
		Breast cancer		Cervical cancer		Hepatocellular carcinoma		Colorectal cancer
		Cases; ()	Controls; ()	Cases; ()	Controls; ()	Cases; ()	Controls^a; ()	Cases; ()	Controls^a; ()
BRCA1	c.4801A>T	1/3217	0/2660	1/1133	0/1098	0/2044	0/1116	0/1116	0/1116
BRCA1	c.3257del	3/3217	0/2660	0/1133	0/1098	0/2044	0/1116	0/1116	0/1116
BRCA1	c.440del	1/3217	0/2660	0/1133	0/1098	0/2044	0/1116	0/1116	0/1116
BRCA2	c.4307T>C	0/3217	0/2660	0/1133	0/1098	1/2044	0/1116	0/1116	0/1116
BRCA2	c.7409dup	2/3217	0/2660	0/1133	0/1098	1/2044	0/1116	0/1116	0/1116

^aHepatocellular carcinoma and colorectal cancer shared the cancer-free control samples.