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Table 3 Recurrent mutations of BRCA1 gene identified in this study

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