Table 1. Frequency of germline pathogenic mutations in Taiwanese HBOC patients.

Reference	Population	No. of patients	No. of mutation cases (%)				Methods
			BRCA1	BRCA2	Non-BRCA	Total
Kuo et al.[14]	Early-onset, bilateral or familial BC	36	3 (8.3)	N/A	N/A	3 (8.0)	BRCAChip (re-sequencing microarray)
Chao et al. [12]	Ovarian cancer	35	3 (8.6)	2 (5.7)	N/A	5 (14.2)	NGS (BRCA1/2) for FFPE*¶
Lin et al. [15]	Early-onset, bilateral or familial BC	133	9 (6.7)	11 (8.2)	10 (7.5)	30 (22.5)	NGS (68-gene panel)¶
Present study	At-risk patients with HBOC	42	5 (11.9)	2 (4.8)	NA	7 (16.7)	BRCAChip (re-sequencing microarray)
		26	1 (3.8)	1 (3.8)	3 (11.5)	5 (19.2)	NGS (49-gene panel)¶
Total		272	21 (7.7)a	16 (6.8)b	13 (8.2)c	50(18.4)a

HBOC: hereditary breast and ovarian cancer; NGS: next-generation sequencing

*FFPE: formalin-fixed paraffin-embedded normal tissue used to obtain germline information.

^aIncluded Kuo[14], Chao [12], Lin [15] and the present study (total n = 272).

^bIncluded Chao [12], Lin [15] and the present study (total n = 236).

^cIncluded Lin [15] and NGS of the present study (total n = 159).

^¶ Detailed list of genes and detected pathogenic genes are provided in S2 Table