Table 2.

Personal and family history of BRCA1 or BRCA2 positive patients in Ambry Genetics RC study cohort.

Gene	Pathogenic variant	Gender	Age—RC diagnosis	Personal cancer history	Age—HBOC syndrome cancer	Family history of cancer
BRCA1	c.68_69DELAG p.E23Vfs*17	M**	51	Renal	–	Breast Melanoma Gastric
BRCA1	c.2475DELC p.D825Efs*21	F	55	Renal	–	Breast Ovarian
BRCA1	c.5207T>C p.V1736A	F	45	Renal	–	Breast Ovarian Gastric Lung
BRCA1 + MSH6	c.68_69DUPAG p.E23Efs*9	M	56	Renal Prostate CRC	46	Ovarian Brain Uterine
BRCA1	c.68_69DELAG p.E23Vfs*17	F	50	Renal Ovarian Cervical	63	Not provided
BRCA1	c.4128_4129DELAA p.S1377Rfs*3	F	58	Renal Breast Ovarian Sarcoma	53 breast 62 ovarian	Throat Unknown
BRCA1	c.68_69DELAG p.E23Vfs*17	M	0.5 (Wilm’s tumor)	Renal CNS Pheochromocytoma	–	Breast Prostate Gastric
BRCA2	c.7558C>T p.R2520*	F	37	Renal	–	Renal Breast CRC
BRCA2	c.8575C>T p.Q2859*	M	52	Renal	–	Renal Breast Pancreatic CRC Thyroid Lung
BRCA2	c.2731DELG p.E911Kfs*4	M	57	Renal	–	No cancers
BRCA2	c.425G>A p.S142N	F	51	Renal Breast	51	Breast Pancreatic Thyroid Lung Skin
BRCA2	c.2339C>G p.S780*	F	60	Renal Uterine	–	Renal Breast Pancreatic Prostate Sarcoma Bladder Thyroid Lymphoma
BRCA2	c.3847_3848DELGT p.V1283Kfs*2	M	46	Renal Prostate	53	Breast Pancreatic Prostate
BRCA2	c.7069_7070DELCT p.L2357Vfs*2	M	54	Renal Lung	–	Renal Breast Lung
BRCA2	c.518DELG p.G173Vfs*12	F	56	Renal Breast	59	Renal Breast Ovarian Prostate CRC Thyroid Lung
BRCA2	c.4284DUPT p.Q1429Sfs*9	M	56	Renal Pancreatic	56	Renal Breast Pancreatic Gastric
BRCA2	c.9294C>G p.Y3098*	F	51	Renal Breast CRC Uterine	49	Renal Prostate Brain

Patient demographics, age of diagnosis, and cancer histories are listed. Family cancer histories listed for those who reported a family history.

CNS central nervous system, CRC colorectal cancer, HBOC syndrome hereditary breast ovarian cancer syndrome, RC renal cancer, fs frame shift, **Ashkenazi Jewish. Family histories as self-reported on the intake form/medical records and have not been validated.