Table 2.

The enrichment of P/LP germline mutation in lung cancer cohort.

Genes	LC ACa	LC AN	LC AF	ChinaMAP ACa	ChinaMAP AN	AF	OR	95% CI	p value
BRCA2*	14	3574	0.0039	16	21160	0.0008	5.18	2.34–11.33	2.56E−05
FANCA*	9	3579	0.0025	4	21172	0.0002	13.30	3.71–59.17	1.1440E−05
RAD51D*	7	3581	0.0020	16	21160	0.0008	2.58	0.90–6.65	0.03921
ATM*	7	3581	0.0020	7	21169	0.0003	5.91	1.77–19.76	0.0018
MUTYH	6	3582	0.0017	41	20864	0.0019	0.86	0.30–2.05	1
TP53*	5	3583	0.0014	2	21174	9.445E−05	14.77	2.42–155.07	0.0010
FANCD2*	5	3583	0.0014	2	21174	9.445E−05	14.77	2.41–155.07	0.0010
BRIP1*	5	3583	0.0014	2	21174	9.445E−05	14.77	2.41–155.07	0.0010
BLM	5	3583	0.0014	11	21165	0.0005	2.68	0.73–8.39	0.0699
BRCA1	4	3584	0.0011	12	21164	0.0006	1.97	0.46–6.50	0.2741
MSH6*	4	3584	0.0011	3	21173	0.0001	7.88	1.33–53.73	0.0107
PMS2	3	3585	0.0008	7	21169	0.0003	2.53	0.42–11.09	0.1667
PMS1*	3	3585	0.0008	0	21176	0	Inf	2.44-Inf	0.0030
SDHA	3	3585	0.0008	5	21171	0.0002	3.54	0.55–18.21	0.0968
RAD51C*	3	3585	0.0008	2	21174	9.445E−05	8.86	1.01–106.12	0.0242
PALB2	3	3585	0.0008	6	21170	0.0003	2.95	0.48–13.83	0.1301
CHEK2*	3	3585	0.0008	1	21175	4.722E−05	17.72	1.42–924.85	0.0108

LC lung cancer, AC Allele counts (mutant allele count of P/LP mutation found from lung cancer cohort in certain genes), AN Allele number (Total allele count minus mutant AC in the cohort or database), AF allele frequency, OR Odds Ratio, CI Confidence interval, Inf infinity.

*P value < 0.05 (calculated with Fisher’s exact test).

^aThe same ACMG guideline and same criteria were applied to annotate P/LP mutations.