Table 1.

Description of variants and families included in the risk estimation analyses

		Breast Cancer			Ovarian Cancer
Variant/Group	Informative Families	Heterozygous	Wild Type	Unknown	Heterozygous	Wild Type	Unknown
BRCA1
GC-HBOC BRCA1 PTC	324	85	7	495	22	2	125
RING domain
c.181T>G, p.[Cys61Gly]	316	114	14	490	20	0	87
c.190T>C, p.[Cys64Arg]	55	14	10	116	4	0	33
Other RING domaina	34	13	3	55	7	0	23
All RING domain	405	141	27	662	31	0	143
GC-HBOC c.181T>G, p.[Cys61Gly]	277	81	9	422	9	0	73
BRCT domain
c.5095C>T, p.[Arg1699Trp]	43	11	2	45	13	0	36
c.5123C>A, p.[Ala1708Glu]	56	17	0	84	3	1	19
c.5212G>A, p.[Gly1738Arg]	36	25	2	39	12	0	9
Other BRCT domainb	42	21	6	59	10	0	14
All BRCT domain	177	74	10	227	38	1	78
All BRCA1 nissense	582	215	37	889	69	1	221
BRCA2
GC-HBOC BRCA2 PTC	214	48	9	376	5	0	38
DBD
c.7878G>C, p.[Trp2626Cys]	34	3	0	44	0	1	9
c.8167G>C, p.[Asp2723His]	33	18	3	66	2	0	12
c.9154C>T, p.[Arg3052Trp]	20	9	2	39	0	0	8
Other B2 DBDc	66	19	6	121	6	1	18
All DBD Missense	153	49	11	270	8	2	47

Index individuals are excluded from tabulations.

B2, BRCA2; DBD, DNA binding domain; GC-HBOC, German Consortium for Hereditary Breast and Ovarian Cancer; PTC, protein truncating.

^ac.53T>C, p.[Met18Thr]; c.65T>C, p.[Leu22Ser]; c.110C>A, p.[Thr37Lys]; c.115T>C, p.[Cys39Arg]; c.116G>A, p.[Cys39Tyr]; c.130T>A, p.[Cys44Ser]; c.131G>T, p.[Cys44Phe]; c.190T>G, p.[Cys64Gly]; c.191G>A, p.[Cys64Tyr].

^bc.5053A>G, p.[Thr1685Ala]; c.5054C>T, p.[Thr1685Ile]; c.5089T>C, p.[Cys1697Arg]; c.5117G>A, p.[Gly1706Glu); c.5143A>C, p.[Ser1715Arg]; c.5213G>A, p.[Gly1738Glu]; c.5216A>T, p.[Asp1739Val]; c.5291T>C, p.[Leu1764Pro]; c.5297T>G, p.[Ile1766Ser]; c.5309G>T, p.[Gly1770Val]; c.5324T>A, p.[Met1775Lys]; c.5324T>G, (p.Met1775Arg]; c.5363G>T, p.[Gly1788Val]; c.5513T>A, p.[Val1838Glu].

^cc.7879A>T, p.[Ile2627Phe]; c.7940T>C, p.[Leu2647Pro]; c.7958T>C, p.[Leu2653Pro]; c.7988A>T p.[Glu2663Val]; c.8165C>G, p.[Thr2722Arg]; c.8168G>A, p.[Asp2723Gly]; c.8243G>A, p.[Gly2748Asp]; c.9004G>A, p.[Glu3002Lys]; c.9227G>A, p.[Gly3076Glu].