A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene

Table 1 Comparison of FANCI c.1813C>T carrier frequencies in cancer cases with French Canadian cancer-free females. All odds ratios are calculated comparing to cancer-free females

Study group¹	*BRCA1 and BRCA2* mutation status¹	Case tested	Number of subjects	Number of c.1813C>T carriers (%)	OR	95% CI	P
OC families²	All	OC	42	3 (7.1)	3	0.9–9.9	0.073
	Negative		22	2³ (9.1)	3.9	0.89–17	0.071
	BRCA1 positive		14	1 (7.1)	3	0.39–23	0.29
	BRCA2 positive		6	0	NA	NA	NA
Sporadic OC cases	All	OC	439	7 (1.6)	0.63	0.29–1.4	0.25
	Negative		400	7 (1.8)	0.69	0.32–1.5	0.36
	BRCA1 positive		18	0	NA	NA	NA
	BRCA2 positive		21	0	NA	NA	NA
HGSC cases	All	OC	341	7 (2.1)	0.81	0.37–1.8	0.61
	Negative		310	7 (2.3)	0.9	0.41–2	0.79
	BRCA1 positive		15	0	NA	NA	NA
	BRCA2 positive		16	0	NA	NA	NA
HBOC²	All	BC	82	3 (3.7)	1.5	0.46–4.8	0.52
	Negative		34	2 (5.9)	2.4	0.57–10	0.23
	BRCA1 positive		29	0	NA	NA	NA
	BRCA2 positive		21	1 (4.8)	1.9	0.26–15	0.52
HBC	All	BC	158	3 (1.9)	0.75	0.23–2.4	0.63
	Negative		93	2 (2.2)	0.85	0.21–3.5	0.83
	BRCA1 positive		20	1 (5)	2.1	0.27–15	0.49
	BRCA2 positive		45	0	NA	NA	NA
Sporadic BC cases	All	BC	558	8 (1.4)	0.57	0.27–1.2	0.13
	Negative		538	8 (1.5)	0.59	0.28 –1.2	0.16
	BRCA1 positive		4	0	NA	NA	NA
	BRCA2 positive		17	0	NA	NA	NA
Cancer-free females	NA	NA	2950	74 (2.5)	1

¹See Additional file 1: Table S1 for details of study groups
²There is overlap of some families but individuals were counted only once
³Inclusion of the discovery family (F1528) leads to 3 FANCI c.1813C>T carrier families out of 23 BRCA1 and BRCA2 pathogenic variant negative (13%; OR = 5.8; 95%CI = 1.7–20.; P = 0.005)
NA not available

ISSN: 1756-994X