Skip to main content

Table 4 Recurrent mutations of BRCA2 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
c.9018C > A (p.Tyr3006Ter) 94 1, 6, 7 Yes No Yes Yes No Lung Luminal
134 1, 2, 9 Yes No Yes Yes Yes Melanoma Luminal
264 1, 5, 7 Yes No Yes No Yes Colon and gastric Luminal
265 1, 5, 7 Yes No Yes No No Lung Luminal
274 1, 5, 7 Yes No Yes No No Lung Luminal
787 1, 6 Yes No Yes Yes No ENT, pancreatic and lung Luminal
831 1 Yes No Yes No No Colon Triple negative
1045 1, 6 Yes No Yes Yes No Gastric, pancreas and prostate Luminal
1056 1, 2, 4 Yes Yes Yes No Yes Colon Luminal
1063 5 Yes No Yes No No   Luminal
c.5720_5723delCTCT (p.Ser1907Terfs) 84 1 Yes No No No No Thyroid Unknown
217 1, 4, 5 Yes Yes Yes No Yes Lung and lymphoma Triple negative - Luminal
284 4, 5, 6 Yes Yes Yes Yes No Germinal Luminal
286 1, 4, 5 Yes Yes Yes No No   Luminal
824 5 Yes No Yes No No Prostate Luminal
960 1, 3, 5 Yes No Yes No No Germinal Unknown
c.6275_6276delTT (p.Leu2092Profs) 149 1, 5 Yes No Yes No No Prostate Luminal
263 1, 5 Yes No Yes No No Prostate Luminal
781 1, 3, 5 Yes No Yes No Yes   Luminal
925 5, 6 Yes No Yes Yes No Bile duct Luminal
c.9382C > T (p.Arg3128Ter) 77 1, 5, 6 Yes No Yes Yes No ENT Luminal
291 1, 5, 7 Yes No Yes No No   Luminal
329 1, 4, 5 Yes Yes Yes Yes No ENT Unknown
? 1, 4, 5 Yes No Yes No No   Luminal
c.67 + 2 T > C 750 5, 7, 8 Yes No Yes No Yes ENT Luminal
905 6 Yes No Yes Yes No Gastric, bladder and melanoma Luminal
1051 5 Yes No Yes No No Prostate, gastric and colon Luminal