Table V.

Novel variations (n=29).

Gene	Location	Exon	Mutation type	AA change	Probands
BRCA1	c.1934del	10	FS	p.Ser645fs	EO
	c.2957del	10	FS	p.Ile986fs	HBOC
	c.3294del	10	FS	p.Leu1098fs	BCFH
	c.3621del	10	FS	p.Lys1207fs	BBD
	c.3859del	10	FS	p.Glu1287fs	BCFH
	c.4013del	10	FS	p.Lys1338fs	EO
	c.4676-1G>T	Intr	S	–	EO
	c.5156del	18	FS	p.Val1719fs	BCFH
BRCA2	c.31del	2	FS	p.Phe11fs	EO
	c.767_771del	9	FS	p.Thr256fs	EO
	c.988del	10	FS	p.Lys330fs	BCFH
	c.3364del	11	FS	p.Gly1122fs	EO
	c.426-2A>T	Intr	S	–	HBOC
	c.4410_4413del	11	FS	p.Ile1470fs	BCFH
	c.5480del	11	FS	p.Ile1827fs	BCFH
	c.5495del	11	FS	p.Ser1832fs	MBC/BCFH
	c.5599_5602del	11	FS	p.Tre1867fs	EO
	c.5718_5719del	11	FS	p.Asn1906fs	BBC
	c.5753dela	11	FS	p.His1918fs	BCFH
	c.6288_6289dela	11	FS	p.Pro2096fs	BCFH
	c.6462_6465del	11	FS	p.Tyr2154fs	BBC/EO
	c.6552del	11	FS	p.Glu2184fs	BCFH
	c.6698_6699insTTTT	11	FS	p.Ala2233fs	HBOC
	c.7178_7179del	14	FS	p.Met2393fs	BCFH
	c.8019_8020insAT	18	N	p.Lys2673fs	BBD
	c.8039_8040del	18	FS	p.Asp2680fs	EO
	c.8367_8369 TAC>A	19	FS	p.Tyr2789Ter	EO
	c.8400_8402delinsAAAA	19	FS	p.Phe2801fs	EO
	c.9090dupa,b	23	FS	p.Thr3030fs	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.

^aMore than one carriers from the same family.

^bInherited from paternal family, which doesn't have breast or ovarian cancer family history.