TABLE 2.

Description of 11 potentially pathogenic/likely pathogenic germline heterozygous variants mapped to 10 known/candidate cancer predisposition genes and detected in 10 hepatoblastoma patients.

ID	Gene	OMIM Condition	CPG category	Genomic Coordinates (GRCh37)	HGSV Nomenclature	Frequency (GnomAD exomes/AbraOM)	Protein Change	Pathogenicity Assessment	Inheritance	Clinical Information	Literature Related to Cancer Predisposition Evidence
P03	TGFBR2	#614331 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6/#610168 LOEYS-DIETZ SYNDROME 2 (AD)	bona fide	3:30733054	NM_001024847.2:c.1742A > G	...	p.Lys581Arg	VUS/likely pathogenic	maternal	...	Xu and Pasche, (2007) Ma et al. (2012) Felicio et al. (2021)
P04	DROSHA	...	candidate	5:31424577	NM_013235.5:c.3218A > C	0.000016/0	p.Asp1073Ala	VUS/likely pathogenic	N/A	Positive familial cancer history	Wegert et al. (2015) Carraro et al. (2016) Felicio et al. (2021)
P11	FAH	#276700 TYROSINEMIA, TYPE I (AR)	bona fide	15:80460444	NM_000137.2:c.506C > T	...	p.Ser169Phe	Likely pathogenic	maternal	Positive familial cancer history; syndromic	Zhang et al. (2015) Carta et al. (2020) Capellini et al. (2021)
P13	MSH2	#120435 LYNCH SYNDROME I/#158320 MUIR-TORRE SYNDROME (AD); #619096 MISMATCH REPAIR CANCER SYNDROME 2 (AR)	bona fide	2:47630464	NM_000251.2:c.134C > A	...	p.Ala45GLu	VUS/likely pathogenic	maternal	Premature; syndromic	Capasso et al. (2020)
P16	VHL	#193300 VON HIPPEL-LINDAU SYNDROME/#171300 PHEOCHROMOCYTOMA (AD)	bona fide	3:10183772	NM_000551.3:c.241C > T	0.000218/0	p.Pro81Ser	Likely pathogenic (modifier)	N/A	...	Schmidt et al. (2016)
P21	CHEK2	#609265 LI-FRAUMENI SYNDROME 2/#14480 BREAST, #114500 COLORECTAL, # 176,807 PROSTATE SUSCEPTIBILITY TO CANCER	bona fide	22:2,9091741	NM_007194.4:c.1216C > T	0.000060/0	p.Arg406Cys	VUS/likely pathogenic	not maternal	Congenital tumor	Vahteristo et al. (2002) Bąk et al. (2014) Southey et al. (2016)
P22	VHL	#193300 VON HIPPEL-LINDAU SYNDROME/#171300 PHEOCHROMOCYTOMA (AD)	bona fide	3:10183685	NM_000551.3: c.154G > A	0.000085/0	p.Glu52Lys	VUS/likely pathogenic	maternal	Premature	Schmidt et al. (2016)
P27	APC	#175100 FAMILIAL ADENOMATOUS POLYPOSIS 1 (AD)/#135290 DESMOID disease, HEREDITARY (AD)	bona fide	5:112175038	NM_000038.6:c.3747C > A	...	p.Cys1249*	Pathogenic	maternal	Positive familial cancer history*	Baeg et al. (1995) Schmidt et al. (2016)
P28	ERCC5	# 616,570 CEREBROOCULOFACIOSKELETAL SYNDROME 3 (AR)/# 278,780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G (AR)	bona fide	13:103514580	NM_000123.3:c.1081delC	...	p.Leu361Trpfs*18	Likely pathogenic	not paternal	Syndromic	Fassihi et al. (2016)
	MUTYH	#608456 FAMILIAL ADENOMATOUS POLYPOSIS 2 (AR)	bona fide	1:45798111	NM_001048174.1:c.656G > A	0.000008/0	p.Arg219GLn	VUS/likely pathogenic	paternal		Barreiro et al. (2022)
P30	RPS19	# 105,650 DIAMOND-BLACKFAN ANEMIA 1 (AD)	bona fide	19:42365273	NM_001022.3:c.164C > T	0.000248/0	p.Thr55Met	VUS/likely pathogenic	maternal	Positive familial cancer history; premature; syndromic	Luft, (2010)