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

Table 3

Clinical characteristics of cases harboring BRCA1/2 germline variants.

Gene	Nucleotide change	Counts	Sample ID	Cancer type^a	Stage	Age	Family history^a	ER	PR	HER2
BRCA1	c.5133del	1	26	BC	Discovery	30	BC	—	—	—
	c.4801A>T	3	5	BC	Discovery	34	BC	NA	NA	NA
			71	BC	Validation	46		—	—	—
			78	CC	Validation	44		NA	NA	NA
	c.4460A>G	2	21	BC	Discovery	50	BC	+	+	NA
			23	BC	Discovery	48	BC	—	—	—
	c.3448C>T	1	12	BC	Discovery	45	BC	+	+	+
	c.1961del	1	67	BC	Discovery	54	OC	—	+	—
	c.1700dup	1	40	BC	Discovery	53	BC	—	—	+
	c.824G>A	2	4	BC	Discovery	46	BC	—	—	+
			70	BC	Discovery	27	BC	NA	NA	NA
	c.3257del	4	62	BC	Discovery	37	OC	—	—	—
			72	BC	Validation	58		—	—	+
			73	BC	Validation	62		—	—	+
			74	BC	Validation	37		—	—	—
	c.440del	2	50	BC	Discovery	48	BC	—	—	—
			75	BC	Validation	60		+	+	—
BRCA2	c.4307T>C	2	64	BC	Discovery	60	OC	—	—	+
			79	HCC	Validation	58	BC	NA	NA	NA
	c.7409dup	4	18	BC	Discovery	50	BC	NA	NA	NA
			76	BC	Validation	55		—	—	NA
			77	BC	Validation	46		+	+	NA
			80	HCC	Validation	68		NA	NA	NA
	c.7093C>A	1	26	BC	Discovery	30	BC	—	—	—
	c.3265C>T	1	57	BC	Discovery	50	BC	+	+	—
	c.4207A>G	1	35	BC	Discovery	44	BC	—	—	—
	c.353G>A	1	37	BC	Discovery	33	BC	+	+	+
	c.1960G>A	1	25	BC	Discovery	60	BC	NA	NA	NA
	c.7149T>A	1	69	BC	Discovery	54	BC	—	—	+
	c.7522G>A	1	3	BC	Discovery	53	BC	—	+	+
	c.2471T>G	1	10	BC	Discovery	41	BC	—	—	+
	c.5681dup	1	61	BC	Discovery	38	BC	+	+	+

^aBC: breast cancer; CC: cervical cancer; HCC: hepatocellular carcinoma; OC: ovarian cancer.