Skip to main content

Table 2 Pathogenic BRCA1/BRCA2 mutations identified in breast/ovarian cancer patients

From: Novel and recurrent BRCA1/BRCA2 germline mutations in patients with breast/ovarian cancer: a series from the south of Tunisia

Gene DNA change Protein change Total read depth Variant read frequency BIC, ClinVar Class Tumor site Age Fq
BRCA1 c.4067-4071 delAAGAA GLn1356Argfs*8 798 0.5293 NR 5 Bil BC 30 1
c.5030_5033delCTAA Thr1677Ilefs*2 1609 0.5320 R 6 BC, OC, BC/OC 38,39,40 3
c.296_297delTG Leu99* 429 0.4779 NR BC 43 1
c.2338C > T Gln780* 626 0.5064 R 5 OC, OC 46,48 2
c.3254delG Arg1085Asnfs*2 796 0.4950 NR 5 BC 33 1
c.3364_3370
dupACAGATT
Phe1124Tyrfs*11 421 0.4676 NR BC 40 1
c.4041_4042delAG Gly1348Asnfs*7 925 0.4941 R 4 BC 40 1
BRCA2 c.17-20 delAAGA Lys6Argfs*17 1238 0.4651 NR 5 BC 39 2
c.1310-1313 delAAGA Lys437Ilefs*22 2206 0.4955 R 5 BC 57,42,
27,58
4
c.1976_1800 delCTTAT Ser599* 2476 0.5202 R 4 BC 37 1
c.2095C > T Gln699* 709 0.5162 NR 5 BC 43 1
c.9097delA Thr3033Leufs*28 1614 0.5165 R 5 BC 63 1
c.632-1G > A 826 0.5133 R 2 BC 27,57 2
  1. BC: Breast cancer; OC: ovarian cancer; Bil BC: bilateral breast vancer; Fq: frequency of the identified mutation in BRCA+ patients; R: reported; NR: not Reported