TABLE 1.

Variants in cancer predisposition genes (class 1–2) in the wildtype and variant TP53 cohorts, annotated with cancer type, sex, LFS criteria, inheritance status, segregation, variant location, variant function, and zygosity

Patient ID	Family ID	TP53 status	Cancer type (age at diagnosis, months)	Sex	Gene	Class	LFS criteria	Inheritance status	Segregation	Variant	Variant function	Zygosity
3298A	MUT12	Mut	Adrenocortical carcinoma (21)	F	BRCA1	1	Unknown	Unknown	Unknown	NM_007294:exon2: c.68_69del:p.E23fs	frameshift deletion	Het
2766	WT4	Wt	Embryonal rhabdomyosarcoma (24)	M	BRCA1	1	Classic	Inherited	Cancer segregating	NM_007294:exon10:c. 5266dup:p.Gln1756fs	frameshift deletion	Het
2768	WT4	Wt	Low grade glioma (516)	M	BRCA1	1	Classic	Unknown	Cancer segregating	NM_007294:exon10:c. 5266dup:p.Gln1756fs	nonsynonymous SNV	Het
1478	MUT52	Mut	Unaffected	M	ERCC3	2	Chompret	Unknown	Unaffected segregating	NM_000122:exon3:c. 325C>T:p.Arg109Ter	nonsynonymous SNV	Het
1478	MUT52	Mut	Unaffected	M	WRN	2	Chompret	Unknown	Unaffected segregating	NM_000553:exon24:c. 2856_2857del:p.S952fs	nonsynonymous SNV	Het
3273	MUT76	Mut	Unaffected	M	FANCM	2	Classic	Not inherited from Mom	Unaffected segregating	NM_020937:exon11:c. 5791C>T:p.Arg1931Ter	stopgain	Het
SJACT007	MUTSJ7	Mut	Adrenocortical carcinoma	M	ERCC3	2	Unknown	Unknown	Unknown	NM_000122:exon8: c.1120_1121insAGCAGT: p.W374delinsX	frameshift deletion	Het
1970	WT2	Wt	Osteosarcoma (164)	M	XPC	2	Birch	Inherited	Shared	NM_004628:exon1: c.C55T:p.Q19X	stopgain	Het
1972	WT2	Wt	Unaffected	F	XPC	2	Birch	Unknown	Shared	NM_004628:exon1: c.C55T:p.Q19X	stopgain	Het
3021	WT6	Wt	Basal cell carcinoma (648)	F	ATM	2	Classic	Unknown	Cancer segregating	NM_000051:exon49: c.T7271G:p.V2424G	splicing	Het
4093	WT6	Wt	Anorectal melanoma (319)	F	ATM	2	Classic	Inherited	Cancer segregating	NM_000051:exon49: c.T7271G:p.V2424G	stopgain	Het