From: Hereditary breast and ovarian cancer in Andalusian families: a genetic population study
Recurrent mutations in BRCA1 | Family | Criteria | Breast Cancer (BC) | Male BC | BC < 50 | Bilateral BC | Ovarian Cancer | Other tumours | Phenotype |
---|---|---|---|---|---|---|---|---|---|
5078_5080delCTG (p.Ala1693del) | 40 | 1, 2, 8 | Yes | No | Yes | Yes | Yes | ENT | Unknown |
252 | 1, 5, 6 | Yes | No | Yes | Yes | No | Lung, endometrial and kidney | Triple negative | |
525 | 1, 6 | Yes | No | Yes | Yes | No | Luminal | ||
537 | 2, 7, 8 | Yes | No | Yes | No | Yes | Unknown | ||
669 | 1, 2, 8 | Yes | No | Yes | No | Yes | Luminal | ||
c.5123C > A (p.Ala1708Glu) | 207 | 1, 6 | Yes | No | Yes | Yes | No | Triple negative - Luminal | |
507 | 1, 2, 8 | Yes | No | Yes | No | Yes | ENT | Unknown | |
811 | 1, 3, 5 | Yes | No | Yes | No | Yes | Luminal | ||
836 | 1, 5, 6 | Yes | No | Yes | Yes | No | Triple negative | ||
861 | 1, 5 | Yes | No | Yes | No | No | Endometrial, gastric | Triple negative - Luminal | |
c.3756_3759delGTCT (p.Ser1253Argfs) | 253 | 5 | Yes | No | Yes | No | No | Unknown | |
337 | 1, 7, 8 | Yes | No | Yes | No | Yes | Lung, colon and multiple myeloma | Triple negative | |
823 | 1, 5 | Yes | No | Yes | No | No | Luminal - HER2 | ||
1070 | 1, 5, 8 | Yes | No | Yes | No | Yes | Cerebral and germinal tumour | Unknown | |
c.3770_3771delAG (p.Glu1257Glyfs) | 7 | 1, 5 | Yes | No | Yes | Yes | No | Skin | Triple negative |
62 | 1, 3, 6 | Yes | No | Yes | No | Yes | Colon | Triple negative | |
859 | 1, 3, 5 | Yes | No | Yes | No | Yes | Colon, kidney and bladder | Triple negative | |
984 | 1, 3, 6 | Yes | No | Yes | Yes | Yes | ENT and lymphoma | Luminal | |
c.5419delA (p.Ile1807Leufs) | 481 | 1, 5 | Yes | No | Yes | No | No | Unknown | |
690 | 1, 3, 5 | Yes | No | Yes | No | Yes | Triple negative | ||
835 | 1, 3, 6 | Yes | No | Yes | Yes | Yes | Colon and lung | Triple negative | |
983 | 3, 5 | Yes | No | Yes | No | Yes | Colon | Triple negative |