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

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

Gene	Common mutation designation ^a	HGVS mutation designation	Histological subtypes (%)
Gene	Common mutation designation ^a	HGVS mutation designation	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)
	3768insA^b	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	2816insA^b	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)
	6503delTT^b	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	2^c (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)

^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.

ISSN: 1757-2215