Table 1 Study participants and DNM burdensh

From: Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

Child ID	De novo SNV burden	De novo indel burden	De novo total burden	Child genotype	Child age	Child sex	Parent with germline DNA repair variant	Age father	Age mother	Proportion phased SNVs	Proportion phased to mother	Proportion phased to father
POLE_A:II.1	93	4	82	POLE carrier	35	Female	Mother	30	23	0.37	0.68	0.32
POLE_A:II.2	119	1	120	POLE carrier	43	Female	Mother	32	25	0.25	0.63	0.37
POLE_A:II.3	156	7	163	WT	39	Female	Mother	37	30	0.24	0.37	0.63
POLE_B:II.1	158	3	161	WT	45	Female	Father	22	19	0.27	0.05	0.95
POLE_B:II.2	231	8	239	POLE carrier	46	Female	Father	24	21	0.24	0.07	0.93
POLE_B:III.1	109	5	114	WT	21	Female	Mother	26	22	0.27	0.48	0.52
POLE_B:III.2	84	4	88	POLE carrier	19	Female	Mother	29	24	0.27	0.39	0.61
POLD1_A:II.1	56	7	63	POLD1 carrier	51	Male	Mother	18	19	0.32	0.39	0.61
POLD1_A:II.2	60	2	62	WT	50	Female	Mother	20	22	0.30	0.50	0.50
POLD1_A:II.3	65	6	71	POLD1 carrier	45	Male	Mother	24	25	0.40	0.46	0.54
POLD1_B:II.1	76	7	83	WT	45	Male	Mother	28	19	0.36	0.44	0.56
POLD1_B:II.2	69	7	76	POLD1 carrier	41	Male	Mother	33	24	0.17	0.50	0.50
MUTYH_A:II.1	53	4	57	MUTYH bi-allelic	42	Male	Both mono-allelic	27	21	0.40	0.33	0.67
MUTYH_A:II.2	60	3	63	MUTYH mono-allelic	36	Female	Both mono-allelic	30	24	0.28	0.06	0.94
MUTYH_A:II.3	53	6	59	WT	35	Male	Both mono-allelic	32	26	0.28	0.07	0.93
MUTYH_B:II.1	71	5	76	MUTYH mono-allelic	52	Female	Mother bi-allelic	26	23	0.25	0.61	0.39
MUTYH_B:II.2	57	3	60	MUTYH mono-allelic	50	Female	Mother bi-allelic	29	26	0.26	0.73	0.27
MUTYH_C:II.1	180	32	212	MUTYH bi-allelic	50	Female	Both mono-allelic	30	21	0.29	0.55	0.45
MUTYH_C:II.2	52	7	59	MUTYH mono-allelic	38	Male	Both mono-allelic	32	23	0.19	0.30	0.70
MUTYH_C:II.3	56	8	64	WT	37	Male	Both mono-allelic	33	25	0.36	0.10	0.90
MUTYH_C:II.4	73	8	81	MUTYH mono-allelic	28	Male	Both mono-allelic	42	33	0.23	0.06	0.94
244:II.1	72	7	79	WT	38	Male		25	23	0.25	0.28	0.72
244:II.2	57	5	62	WT	46	Male		27	25	0.18	0.10	0.90
244:II.3	48	2	50	WT	47	Male		29	27	0.27	0.08	0.92
244:II.4	42	5	47	WT	48	Male		37	35	0.26	0.27	0.73
569:II.1	38	4	42	WT	44	Female		24	24	0.24	0.11	0.89
569:II.2	50	3	53	WT	41	Female		27	27	0.32	0.19	0.81
569:II.3	55	3	58	WT	37	Female		31	31	0.18	0.30	0.70
569:II.4	66	9	75	WT	34	Female		34	34	0.32	0.14	0.86
569:II.5	72	6	78	WT	31	Female		37	37	0.35	0.28	0.72
603:II.1	75	5	80	WT	18	Male		23	26	0.35	0.23	0.77
603:II.3	56	6	62	WT	28	Female		31	34	0.21	0.25	0.75
603:II.4	49	2	51	WT	30	Female		35	38	0.22	0.09	0.91

For simplicity, we refer to all nuclear families as being composed of parents and children, irrespective of current age. Full data for each child are shown, but parents are only shown in regard to their germline DNA repair mutation carrier status. All families comprise two generations except for POLE_B, which has three generations and is split into two nuclear families for our anaysis (POLE_B:II.2 is the mother of POLE_B:III.1 and POLE_B:III.2). SBS burden includes a very small number of DBSs. Child age is age at blood sampling. Ages of mother and father are at the birth of the child. Proportion of phased SNVs is the proportion of all de novo SNVs that could be assigned as originating from the mother or the father (or alternatively occurring on maternal or paternal chromosomes for any post-zygotic mutations).

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Table 1 Study participants and DNM burdensh

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