Table 2 Proposed ovarian carcinoma predisposition genes with loss-of-function (LoF) and known deleterious missense variants in the discovery case cohort.

Gene	No. of pathogenic alleles in cases^a (%)	No. of LoF alleles in GnomAD^b (%)	OR (95% CI)^c	P value^c
ATM	7 (0.69)^d	195 (0.17)	2.98 (0.95−7.1)	0.030
BLM	3 (0.29)^e	131 (0.11)	2.66 (0.54−7.96)	0.11
CHEK2	2 (0.20)	401 (0.34)	0.57 (0.07−2.09)	0.59
FANCM	4 (0.39)	344 (0.29)	1.35 (0.36−3.49)	0.55
MRE11A	3 (0.29)	57 (0.048)	6.11 (1.22−18.8)	0.015
NBN	1 (0.098)	90 (0.076)	1.29 (0.03−7.37)	0.54
NF1	1 (0.098)	19 (0.016)	6.10 (0.15−38.5)	0.16
PALB2	3 (0.29)	86 (0.073)	4.05 (0.82−12.3)	0.041
RAD50	2 (0.20)	168 (0.14)	1.38 (0.17−5.08)	0.66
RECQL	2 (0.20)	289 (0.24)	0.80 (0.10−2.92)	1.0
Total	28 (2.7)

^aTotal n = 1020 alleles tested per gene.
^bGnomAD non-Finnish European (NFE), non-cancer sub-population.
^cFisher’s exact test results (OR odds ratio, CI confidence interval). Calculations exclude missense variants.
^dFigure for ATM includes two missense variants (c.7271 T > G, c.8147 T > C) classed as ‘pathogenic’ in NCBI ClinVar.
^eFigure for BLM excludes additional stop-gain variant (c.2208 T > G) found in cis with frameshift variant (c.2206dupT) in the same individual.

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