Detection of Breast Cancer Lump and BRCA1/2 Genetic Mutation under Deep Learning

Table 2

Results of sample sequencing.

Sample name	P1		P2		P3	P4
Gene	BRCA2	BRCA2	BRCA1	BRCA1	BRCA1	BRCA2
Allele Freq Asn	23	120	36	36	36	100
Coordinate	39382638	30264927	419200372	43375502	41172649	32929387
HGVSc	c.H75A>C	c.6634T>C	c.4373A>G	c.2643A>G	c.237C>T	c.7397T>C
COSMIC ID	COSM103751		COSM134096		COSM166528
PolyPhen	Benign (0.536)	Benign (0.231)	Benign (0.1)	Possibly damaging (0.732)	Benign (0.231)	Benign (0)
Geno type	horn	het	hom	het	hom	hom
Sample name	P5	P6	P7	P8	Control group
Gene	BRCA2	BRCA1	BRCA2	BRCA1	BRCA1	BRCA2
Allele Freq Asn	100	33	100	26	100	100
Coordinate	33683462	43477289	32352679	32647899	30038853	31125674
HGVSc	c.72378>C	c.7532AXJ	c.2367T>C	c.7792A>C	c.2352T>C	c.1567T>C
COSMIC ID		COSM13783		COSM 14202
PolyPhen	Benign (0.001)	Benign (0)	Benign (0.343)	Benign (0)	Benign (0.1)	Benign (0.116)
Geno type	hom	het	hom	het	hom	hom