Germline mutations of homologous recombination genes and clinical outcomes in pancreatic cancer: a multicenter study in Taiwan

Table 2 The most frequently pathogenic and likely pathogenic germline variants (n > 3) in cancer susceptibility genes

Gene	Refseq transcripts	HGVS coding	HGVS protein	ACMG	Degrees	dbSNP	MAF	ClinVar	Patient ID
ATM	NM_000051.4	c.1402_1403del	p.Lys468fs	Pathogenic	PVS1: very strong, PP5: very strong, PM2: supporting	rs587781347	0.000019	Pathogenic	H0432, H11204, H4414, KH0065
ATR	NM_001184.4	c.2320dup	p.Ile774fs	Pathogenic	PVS1: very strong, PP5: strong	rs757500301	0.00018	Pathogenic	H10846, H3731, H0028, H0626, H2933, H4039, H5930, H6833
WRN	NM_000553.6	c.502_503del	p.Lys168fs	Pathogenic	PVS1: very strong, PP5: moderate, PM2: supporting	rs776785728	0.000064	Pathogenic	H0083, H0410, H11216, H11993

MAF minor allele frequency, ACMG American College of Genetics and Genomics, PVS very strong pathogenicity, PP supporting pathogenicity, PM moderate pathogenicity, PS pathogenic strong

ISSN: 1423-0127