Table 2. Germline truncating mutation found in this study.

Patient ID	Gene	Reference sequence	dbSNP Accession Number	Nucleotide change	Amino acid change	Type of mutation	dbSNP	ClinVar	PolyPhen2	MutationTaster	FATHMM	Our interpretation for pathogenicity
19	BRCA2	NM_000059	Rs397507568	c.10150 C>T	p. Arg3384Ter	Nonsense	VUS	Conflicting	—	Disease causing	—	VUS
31	BRCA1	NM_007294	rs80356923	c.3640 G>T	p. Glu1214Ter	Nonsense	Other	Pathogenic	—	Disease causing	Cancer	Pathogenic
37	BRCA2	NM_000059	rs80359520	c.5574_5577 delAATT	p. Ile1859Lys fs*3	Frameshift	Pathogenic	Pathogenic	—	Disease causing	—	Pathogenic
57	BRCA2	NM_000059	rs80359314	c.1887_1888 insA	p. Thr630Asn fs*6	Frameshift	Pathogenic	Pathogenic	—	Disease causing	—	Pathogenic