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 |
