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Table 3 BRCA1/BRCA2 truncating mutations, novel and non-truncating variants affect the gene products

From: BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin

Exon Codon (HGVS) Protein level (HGVS) DNA level BIC DNA level BIC Status Carrier CODE Index case Status (age) Family history Inclusion Criteria Worldwide Occurrence
BRCA1           
2 E23VfsX16 Stop cod39 c.66_67delAG 185delAG D AB54 Br(37) Br Ashk-EO-FH Ashkenazi
       AB60 Br(40) Br Ashk-EO-  
       AB77 Ov (44) Br, Ov FH Ashk-  
       AB68 Ov (44) Br, Ov FH Ashk-  
       AB76 Br (49) Br FH Ashk-  
       AB81 Br (52) Br FH Ashk-  
       AB87 Ov (60) Br, Ov FH Ashk-FH  
2 E23KfsX18 Stop cod40 c.67insA 186insA D AB82 Br (34) Br EO-FH NE/ME
5 C61G p. Cys61Gly c.181 T > G 300 T > C D AB75 Br (49) Br FH E
5 R71G p. Arg71Gly c.211A > G 330A > G D AB64 Br (43) Br FH E
7 E143X p. Glu143Stop c.427 G > T 546 G > T D AB46 Br (33) Br, Ov, Pa, Pr EO-FH E
11 S267KfsX19 Stop cod285 c.797_798delTT 916delTT D AB36 Br-Ov (46) Br FH C, L-A E, N-A
11 K501Kfs30 Stop cod530 c.1502_1505delAATT 1621delAATT NR AB20 Br (32) No EO Argentina
11 R504VfsX28 Stop cod531 c.1510delC 1629delC D AB40 Br (30) Br EO-FH E
11 E836GfsX2 Stop cod837 c.507_2508delAA 2626delAA NR AB67 Br (50) Br FH Argentina
11 S896Vfs104 Stop cod999 c.2686delA 2805delA NR AB85 Br (55) Br FH Argentina
11 Q910X p. Gln910Stop c.2728 C > T 2847C > T NR AB84 Ov (55) Br, Ov, Co FH Argentina
11 R1203X p. Arg1203Stop c.3607C > T 3726C > T D AB8 Ov (25) No EO C, L-A
11 E1210RfsX8 Stop cod1218 c.3627insA 3746insA D AB21 Br-Ov (33) No EO C, L-A, As
11 S1253X p. Ser1253Stop c.3758_3759delCT 3877delCT NR AB17 Br (31) No EO Argentina
17 T1677IfsX2 Stop cod1678 c.5030_5033delCTAA 5149delCTAA D AB79 Br (51)* Br, Ov, Pa, Pr FH E
20 S1755PfsX75 Stop cod1829 c.5263insC 5382insC D AB55 Br (49) Br Ashk-FH Ashk-EO-FH E, Ashkenazi
       AB97 Br (38) Br   
BRCA2           
9 - Splice defect c.793 + 1delG IVS9 + 1delG NR AB99 Br (31) Br EO-FH Argentina
11 N955KfsX5 Stop cod959 c.2808_2811delACAA 3036delACAA D AB78 Br (50) Br FH E, L-A
11 S1982RfsX22 Stop cod2003 c.5946delT 6174delT D AB43 Br (32) Br-male Ashk-EO-FH Ashkenazi
       AB47 Br (33) Br-male Ashk-EO-  
       AB69 Br/Ov (45) Br-male FH Ashk-FH  
       AB57 Br (39) Br, Pa, Ashk-EO-  
       AB71 Br (46) Ov Pr, FH Ashk-  
       AB74 Br (48) Br FH Ashk-  
       AB95 Br (36) Br FH
Ashk-
 
       AB96 Br (60) Br EO-FH Ashk-FH  
11 K1213X p. Lys1213Stop c.6037A > T 6265A > T D AB34 Br (40) No EO E
11 S1882X p. Ser1882Stop c.5644C > G 5872C > G D AB117 Br (50) Br, Pr FH E
11 Y1894X Stop cod1894 c.5909insA 6137insA D AB92 Br (31) Br EO-FH E
14 E2369EfsX23 Stop cod2391 c.7105insA 7333insA NR AB98 Br (35) Br EO-FH Argentina
18 D2723H p. Asp2723His c.8169 G > C 8397 G > C CU AB31 Ov (38) No EO E
  1. D, deleterious; CU, clinically unknown importance; NR, Not Reported in Breast Information Core database(BIC)http://research.nhgri.nih.gov/bic/
  2. Global, as defined in BIC or when reported in at least 3 continents ethnic groups in HapMap; E, European; As, Asian; A-A African-American; L-A, Latin American; N-A, Native-American; A-C America-Caucasian; NE/ME, Near Eastern/Middle Eastern;
  3. The DNA sequence numbering of BRCA1and BRCA2 sequence variants is based on recomendations of the Human Genome Variation Society (HGVS, translation initiation codon ATG = 1) BRCA1:genomic sequence:L78833; RNA sequence: U14680; BRCA2 genomic sequence: NW_001838072; RNA sequence: NM_001838072
  4. In bold, novel mutations not previously reported.