Table IV.

BRCA known deleterious mutation sites (n=32).

Gene	Location	Exon	Mutation type	AA change	Probands
BRCA1	c.190T>Cb	4	M	p.Cys64Arg	HOBC
	c.212G>Ac	4	M	p.Arg71Lys	HBOC
	c.212+1G>Tb	Intr	S	–	MBC/BCFH
	c.441+1G>A	Intr	S	–	EO
	c.1660G>Ta	10	N	p.Glu554Ter	BCFH
	c.1674del	10	FS	p.Gly559fs	MBC
	c.2014A>Tb	10	N	p.Lys672Ter	BCFH
	c.2572C>Td	10	N		BBC
	c.3329dup	10	FS	p.Gln1111fs	EO
	c.3400G>T	10	N	p.Glu1134Ter	BBC/BCFH
	c.3472G>T	10	N	p.Glu1158Ter	EO
	c.3607C>T	10	FS	p.Arg1203Ter	BCFH
	c.3626T>G	10	N	p.Leu1209Ter	BBD
	c.3640G>Tb	10	N	p.Glu1214Ter	BCFH
	c.4065_4068del	10	FS	p.Asn1355fs	HBOC
	c.4484+1G>A	Intr	S	–	BCFH
	c.4801A>Td	15	N	p.Lys1601Ter	HBOC
	c.5251C>T	19	N	p.Arg1751Ter	EO
	c.5278-1G>C	Intr	S	–	BBD
	c.5431C>T	22	N	p.Gln1811Ter	HBOS
	c.5470_5477deld	23	FS	p.Ile1824fs	BBD/BCFH
BRCA2	c.961C>T	10	N	p.Gln321Ter	EO
	c.1310_1313delb	10	FS	p.Lys437Ilefs	BCFH
	c.1399A>T	10	N	p.Lys467Ter	EO
	c.2806_2809deld	11	FS	p.Asp936fs	EO
	c.3109C>Ta,d	11	FS	p.Gln1037Ter	BBD/BCFH
	c.5682C>Aa	11	N	p.Tyr1894Ter	BCFH
	c.7007G>Ta	14	S	p.Arg2336Leu	MBC
	c.8504C>G	20	N	p.Ser2835Ter	BCFH
	c.8517C>A	20	N	p.Tyr2839Ter	BCFH
	c.9100C>T	23	N	p.Gln3034Ter	EO
	c.9117G>A	23	Syn	p.Pro3039=	EO

BBC, bilateral breast cancer; BCFH, breast cancer family history; EO, early-onset breast cancer; FS, frameshift; HBOC, heredity breast and ovarian cancer syndrome family; Intr, Intron; MBC, male breast cancer; M, missense; N, nonsense; S, splice; Syn, synonymous.

^aOnce found in Chinese people.

^bHereditary mutation from the same family.

^cDeleterious missense mutation was carried in unrelated probands.

^dMutation was carried in unrelated probands.