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Table 3 Frequency of French Canadian BRCA1 and BRCA2 mutation carriers found in the defined subgroup of 116 women with cancer

From: A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a founder population

Gene Common mutation designation a HGVS mutation designation Histological subtypes (%)
Serous (n = 92) Endometrioid (n = 9) Mixed cell (n = 12) Undifferentiated (n = 3) All types (n = 116)
BRCA1 G1081A c.962G > A 1 (1.1) 0 0 0 1 (0.9)
1135insA c.1016dupA 0 0 0 0 0
E352X c.1054G > T 0 1 (11.1) 0 0 1 (0.9)
2080insA c.1961dupA 0 0 0 0 0
2244insA c.2125_2126insA 1 (1.1) 0 1 (8.3) 0 2 (1.7)
2953delGTAinsC b c.2834_2836delGTAinsC 0 0 1 (8.3) 0 1 (0.9)
3768insAb c.3649_3650insA 0 0 0 0 0
3875del4 c.3756_3759delGTCT 0 0 0 0 0
C4446T b c.4327C > T 8 (8.7) 0 0 0 8 (6.9)
5221delTG c.5102_5103delTG 0 0 0 0 0
Q1846X c.5536C > T 0 0 0 0 0
All BRCA1 variants    10 (10.9) 1 (11.1) 2 (16.7) 0 13 (11.2)
BRCA2 2816insAb c.2588dupA 0 0 0 0 0
3034del4 c.2806_2809delAAAC 0 0 0 0 0
3398del5 c.3170_3174delAGAAA 0 0 0 0 0
3773delTT c.3545_3546delTT 0 0 0 1 (33.3) 1 (0.9)
G6085T b c.5857G > T 1 (1.1) 0 0 0 1 (0.9)
6503delTTb c.6275_6276delTT 0 0 0 0 0
8765delAG b c.8537_8538delAG 2 (2.2) 0 0 0 2 (1.7)
E3002K c.9004G > A 2c (2.2) 0 0 0 2 (1.7)
All BRCA2 variants    5 (5.4) 0 0 1 (33.3) 6 (5.2)
All BRCA1 and BRCA2 variants    15 (16.3) 1 (11.1) 2 (16.7) 1 (33.3) 19 (16.4)
  1. aThe six mutations screened in the entire cohort of 439 women with cancer are bolded; bMutations screened in a previous assay of French Canadian women with ovarian cancer (Tonin et al., [36]). cOne mutation-positive carrier had a grade 2 carcinoma.