Clinical and genetic characterization of hereditary breast cancer in a Chinese population

Jian, Wenjing; Shao, Kang; Qin, Qi; Wang, Xiaohong; Song, Shufen; Wang, Xianming

doi:10.1186/s13053-017-0079-4

Hereditary Cancer in Clinical Practice

Table 4 Causative variants identified in patients with BC

From: Clinical and genetic characterization of hereditary breast cancer in a Chinese population

NO.	Year with drawn	Year with affected BC	Gene	Function area	Nucleotide change	AA change	Hom/Het	1000G_ALL	Variant	Annotation	ACMG evidence
SZ007	60	55	RAD51C	CDS4	c.577C > T	p.R193X	Het	0	nonsense mutation	pathogenic	PVS1,PM2, PP5
SZ009	43	39	ATM	CDS30	c.4630_4633delTACT	p.Y1544*fsX1	Het	0	frameshift deletion	likely pathogenic	PVS1, PM2
15B0028780	66	64	BRCA2	intron9	c.793 + 1G > C	–	Het	0	splicing	likely pathogenic	PVS1, PM2
15B0028776	42	41	BRCA2	intron9	c.793 + 1G > C	–	Het	0	splicing	likely pathogenic	PVS1, PM2
15B0029034	38	37	TP53	CDS6	c.733G > A	p.G245S	Het	0	missense mutation	pathogenic	PVS1,PM2, PP5
15B0029040	40	38	BRCA2	intron15	c.7617 + 1G > A		Het	0	splicing	pathogenic	PVS1,PM2, PP5
15B0029035	60	54	BRCA2	intron15	c.7617 + 1G > A		Het	0	splicing	pathogenic	PVS1,PM2, PP5
15B0029311	60	50	BRCA2	CDS21	c.8946_8947delAG	p.K2982KfsX35	Het	0	frameshift deletion	likely pathogenic	PVS1, PM2
15B0027630	46	46	BRCA2	CDS22	c.9100C > T	p.Q3034X	Het	0	nonsense mutation	pathogenic	PVS1,PM2, PP5
15B0029313	57	51	MUTYH	Intron10	c.892-2A > G	–	Het	0.0277	splicing	likely pathogenic	PVS1, PP5
15B0029264	42	42	BRCA2	CDS10	c.5344_5345insA	p.Q1782QfsX5	Het	0	frameshift deletion	likely pathogenic	PVS1, PM2
15B0029350	54	54	BARD1	CDS9	c.1822_1823insT	p.V608VfsX5	Het	0	frameshift deletion	likely pathogenic	PVS1, PM2
15B0027557	74	74	MUTYH	CDS10	c.757C > T	p.Q253X	Het	0	nonsense mutation	pathogenic	PVS1,PM2, PP5
15B0027660	38	36	BRCA1	CDS9	c.3770_3771delAG	p.E1257GfsX9	Het	0	frameshift deletion	likely pathogenic	PVS1, PM2
SZ006	38	33	NBN	CDS14	c.2140C > T	p.R714X	Het	0	nonsense mutation	pathogenic	PVS1,PM2, PP5
SZ014	59	58	BRCA2	CDS10	c.4046 delT	p.Il349IfsX25	Het	0	frameshift deletion	likely pathogenic	PVS1, PM2
15B0029261	63	54	PALB2	CDS5	c.2257C > T	p.R753X	Het	0	nonsense mutation	pathogenic	PVS1,PM2, PP5
15B0027569	66	66	PALB2	intron5	c.2515-2A > G		Het	0	splicing	likely pathogenic	PVS1, PM2
15B0027884	34	34	BRCA1	CDS9	c.3436_3439delTGTT	p.C1146LfsX8	Het	0	frameshift deletion	pathogenic	PVS1,PM2, PP5
16B0005787	46	44	BRCA1	CDS9	c.3114delA	p.E1038EfsX10	Het	0	frameshift deletion	likely pathogenic	PVS1, PM2
15B0027669	41	39	BRCA2	CDS9	c.1399A > T	p.K467X	Het	0	nonsense mutation	pathogenic	PVS1,PM2, PP5

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ISSN: 1897-4287

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