Reduced BRCA1 transcript levels in freshly isolated blood leukocytes from BRCA1 mutation carriers is mutation specific

Table 4 Overview of BRCA1 mutation type and association with nonsense-mediated decay

Study ID	Age	BRCA1 mutation	Mutation type	Exon	^aNonsense-mediated decay (NMD)
1	33	Deletion Exon 1-2	FS	1–2	Unknown
2	54	185delAG	FS	2	-
3	31	185delAG	FS	2	-
4	27	185delAG	FS	2	-
5	36	185delAG	FS	2	-
6	58	185delAG	FS	2	-
7	58	185delAG	FS	2	-
8	44	185delAG	FS	2	-
9	50	185delAG	FS	2	-
10	35	Deletion Exon 4-6	FS	4–6	Unknown
11	54	2190delA	FS	11	+
12	60	1293del40	FS	11	+
13	33	3748G > T	NS	10	+
14	51	1293del40	FS	11	+
15	33	5382insC	FS	20	-
16	38	5382insC	FS	20	-
17	62	5382insC	FS	20	-
18	52	5382insC	FS	20	-
19	35	5382insC	FS	20	-
20	38	5382insC	FS	20	-
21	41	UI
22	37	UI

^aNonsense-mediated decay (NMD) status was based on experimental investigations by Liu et al. and Perrin-Vidoz et al. [44–46] and other reports [19–28]. UI mutation is unidentified, FS frameshift mutation, NS Nonsense mutation, NMD (+) nonsense-mediated decay is present, NMD (-) nonsense-mediated decay is absent, NMD (Unknown) functional contribution of NMD to mRNA expression levels in these mutations remains to be explored

ISSN: 1465-542X