Table 4.

Detected BRCA1/2 mutations in 47 patients by germline and somatic genetic test

Case	Age (yr)	Cancer	Stage	Detected in blood and/or matched normal tissue		Detected in tumor		Germline/Somatic	Family historya)
				Gene	Mutation	Gene	Mutation
OCA07	53	Ovary	III	BRCA1	c.2048delA	BRCA1	c.2048delA	Germline	+
Pat55	59	Ovary	III	BRCA1	c.2359delG	BRCA1	c.2359delG	Germline	–
OCA02	47	Ovary	III	BRCA1	c.928C>T	BRCA1	c.928C>T	Germline	–
Pat10	53	Ovary	III	BRCA1	c.1716dupA	BRCA1	c.1716dupA	Germline	+
Pat48	64	Ovary	III	BRCA1	c.3442G>T	BRCA1	c.3442G>T	Germline	+
Pat20	52	Ovary	III	BRCA1	c.3700_3704delGTAAA	BRCA1	c.3700_3704delGTAAA	Germline	+
Pat45	61	Ovary	III	BRCA1	c.922_924delAGCinsT	BRCA1	c.922_924delAGCinsT	Germline	+
Pat21	55	Ovary	III	BRCA1	c.4801A>T	BRCA1	c.4801A>T	Germline	+
Pat46	47	Ovary	III	BRCA1	c.390C>A	BRCA1	c.390C>A	Germline	+
Pat11	65	Ovary	III	BRCA1	c.390C>A	BRCA1	c.390C>A	Germline	+
Pat05	77	Ovary	IV	BRCA2	c.3860delA	BRCA2	c.3860delA	Germline	+
Pat08	55	Ovary	III	BRCA2	c.5576_5579delTTAA	BRCA2	c.5576_5579delTTAA	Germline	+
OCA18	57	FTC	III	BRCA1	c.3895C>T	BRCA1	c.3895C>T	Germline	+
OCA13	43	PPC	III	BRCA1	c.3813dupT	BRCA1	c.3813dupT	Germline	–
Pat41	58	Ovary	III	BRCA1	c.5496_5506delinsA	BRCA1	c.5496_5506delinsA	Germline	+
Pat49	48	Ovary	III	BRCA1	c.390C>A	BRCA1	c.390C>A	Germline	–
Pat47	49	Ovary	III	Not detected		BRCA1	c.4287C>A	Somatic	–
OCA16	55	Ovary	IV	Not detected		BRCA1	c.969_970delAA	Somatic	–
OCA19	52	FTC	III	Not detected		BRCA1	c.1813delG	Somatic	+
OCA14	50	PPC	III	Not detected		BRCA2	c.547delA	Somatic	+

FTC, fallopian tubal cancer; PPC, primary peritoneal cancer.

^a)Family history of BRCA-related cancer within second degree relatives and/or patient history of breast cancer.