Genome instability in blood cells of a BRCA1 + breast cancer family

BMC Cancer

Table 2 Germline mutations identified in the family

Gene	Position	Base change	AA change	Type	SIFT		PolyPhen 2		Frequency
					Score	Prediction	Score	Prediction
SRA1	chr5:139936828	c.C91T	p.P31S	SNV	0.00	D	1.00	D	6
PHKG2*	chr16:30767746	c.C706T	p.R236W	SNV	0.00	D	1.00	D	5
ZNF24	chr18:32919897	c.T464G	p.M155R	SNV	0.02	D	0.00	B	4
TMPRSS7	chr3:111797705	c.G1963A	p.G655S	SNV	0.00	D	1.00	D	4
ABLIM2	chr4:8055946	c.G791A	p.R264Q	SNV	0.05	D	1.00	D	3
FOXP1	chr3:71247489	c.C44T	p.A15V	SNV	0.34	T	0.98	D	3
GSTK1	chr7:142964824	c.G703A	p.G235R	SNV	0.02	D	1.00	D	3
LACRT	chr12:55028594	c.C32T	p.A11V	SNV	0.00	D	0.99	D	3
PAMR1	chr11:35456266	c.G1420A	p.G474R	SNV	0.00	D	1.00	D	3
TTN	chr2:179400887	c.G73392A	p.W24464X	Stop gain	NA	NA	NA	NA	3
UEVLD	chr11:18553971	c.G1312T	p.V438L	SNV	0.37	T	0.96	D	2
ITGA1	chr5:52240783	c.C3296G	p.S1099C	SNV	0.01	D	1.00	D	2
BPTF	chr17:65850386	c.A944C	p.N315T	SNV	0.00	D	1.00	D	1
CACNB3	chr12:49220218	c.G688A	p.A230T	SNV	0.01	D	1.00	D	1
CUL4B	chrX:119680410	c.A838T	p.R280X	Stop gain	NA	NA	NA	NA	1
SEMA3C	chr7:80374250	c.G2216A	p.R739Q	SNV	0.01	D	0.99	D	1
TBC1D22B	chr6:37280778	c.G1067A	p.S356N	SNV	0.03	D	0.39	B	1
CHCHD1	chr10:75541868	c.G35T	p.R12L	SNV	0.01	D	0.99	D	1
KCTD8*	chr4:44177010	c.C1219T	p.R407C	SNV	0.00	D	1.00	D	1
CLCN4	chrX:10176455	c.G1214A	p.C405Y	SNV	0.00	D	0.98	D	1
LAT	chr16:29000901	c.G634T	p.A212S	SNV	0.02	D	1.00	D	1
ZNF304	chr19:57868409	c.A1172T	p.Y391F	SNV	0.16	T	1.00	D	1
ZNF674	chrX:46359537	c.C1487A	p.P496H	SNV	0.00	D	1.00	D	1

*Two mutations exist in ESP 6500 with MAF 0.000077, all others are novel mutations only detected in this family.
D: probably damaging; P: possibly damaging; B: benign; T: tolerant.

ISSN: 1471-2407