Table 1

Mutational analysis of the BRCA1 gene in 60 subjects by TDGS and sequence analysis

Sample No	Cancer^1-150	Mutation in TDGS fragment	Exon	Nucleotide change	Additional heterozygous variants in TDGS fragments^1-151
1	Br (bilat)	20	20	insC, 5382	11.6^a, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
2	Br, Ov	2	2	delAG, 185	11.6^a, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
3	Ov
4
5
6		11.2/11.3	11	del40, 1294	11.6^a, 11.7^b, 11.8^b, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
7
8	Br, Ov	11.10	11	T→G, 3053	11.6^a, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^b
9
10	(Male)				11.6^a, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
11					11.6^a, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
12					8
13					11.6^a, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
14	(Male)	11.14/11.15	11	insT, 3769	11.6^a, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 13, 16^a
15					8
16	Br	11.3/11.4	11	insA, 1559	11.6^b, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
17					8, 11.6^a, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
18	Br	8	8	delC, 633	11.6^b, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
19					8, 11.6^a, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
20	Ov, Tong				8
21	Mel				11.6^b, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
22	(Male)				11.6^b, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
23					8, 11.2
24	Br	11.14/11.15	11	G→T, 3867	11.9
25	Br				11.6^b, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
26	Br				11.6^b, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
27	Br, Endo	11.4/11.5	11	C→T, 1806	8, 11.6^a, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
28					8, 11.9
29	Ov	11.15	11	insT, 3879
30
31	Br	11.9	11	delAA, 2800
32	Br, Ov	11.3	11	delAG, 1479	11.6^a, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
33	Br	11.6	11	delA, 2190
34	Ov	11.5/11.6	11	delGAAA, 2072	11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
35	Br
36	Br				11.6^a, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a, 23
37	Br				11.6^a, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
38	Ov				8
39	Ov				8, 11.11^b
40	Ov
41	Ov				8, 11.6^a, 11.7^a, 11.8, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
42	Br	6	Intron 5	T→G, IVS5-11	8
43	Cx, Br (bilat)				8, 11.6^a, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
44	Br
45	Cx, Br, Ov
46	Br
47	Br (bilat)	7	7	G→T, 546
48	Cx, Br
49	Br				8, 11.2
50	Br				11.6^a, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
51	(Male)
52	Br				11.6^a, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
53	Br				11.6^c
54	Ov	11.14/11.15	11	T→G, 3827	11.6^b, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 13, 16^a
55	Br, Ov				11.6^c
56	Ov	2	2	T→C, 172	8, 11.6^a, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
57	Br (male)				8, 11.2
58	Br				11.2
59	Br	19	Intron 18	G→C, IVS18-1	8, 11.2, 11.6^a, 11.7^a, 11.8^a, 11.9, 11.11^a, 11.13, 11.14, 13, 16^a
60	Br, Ov

↵1-150 Br = breast, Ov = ovarian, Tong = tongue, Mel = malignant melanoma, Endo = endometrial, Cx = cervix.
↵1-151 Sequence analysis is depicted in table 2.
^a–cSee table 2.