Assessing the genomic feature of Chinese patients with ampullary adenocarcinoma: potential therapeutic targets

BMC Cancer

Table 2 Germline variants with clinical significance in Chinese patients with AMPAC

Patient NO.	Gender	Age	Stage	Gene	Exon	Coding seq change	Protein_change	HOM/ HET	Mutation_type	Clinical_significance	map_location	from	to
Patient014	Male	67	IV	BRCA2	11	c.6547delG	p.Glu2183fs	HET	frameshift-deletion	likely pathogenic	chr13:32915038	AG	A
Patient043	Male	66	IIB	PALB2	4	c.1317delG	p.Gly439fs	HET	frameshift-deletion	pathogenic	chr16:23646549	AC	A
Patient066	Female	47	IIIB	FANCA	4	c.367 C > T	p.Gln123Ter	HET	stopgain	likely pathogenic	chr16:89877396	G	A
Patient095	Female	74	IIIB	ATM	34	c.5170G > T	p.Glu1724Ter	HET	stopgain	likely pathogenic	chr11:108170605	G	T
Patient145	Female	66	IIB	ATM	57	c.8395_8404del TTTCA GTGCC	p.Phe2799fs	HET	frameshift-deletion	pathogenic	chr11:108214064	ATTTCA GTGCC	A
Patient123	Female	50	IB	MRE11	8	c.791 C > A	p.Ser264Ter	HET	stopgain	likely pathogenic	chr11:94204794	G	T
Patient009	Male	73	IIIA	MSH6	4	c.3037_3041del AAGAA	p.Lys1013fs	HET	frameshift-deletion	pathogenic	chr2:48028155	TGAAAA	T
Patient117	Male	76	IIIB	FANCA	32	c.3169 C > T	p.Gln1057Ter	HET	stopgain	likely pathogenic	chr16:89816208	G	A
Patient041	Male	68	IB	PALB2	4	c.246dupA	p.His83fs	HET	frameshift-insertion	likely pathogenic	chr16:23647620	G	GT
Patient132	Male	63	IIIB	MSH3	22	c.3083dupA	p.Tyr1028fs	HET	frameshift-insertion	likely pathogenic	chr5:80160713	T	TA
Patient030	Male	65	IIIB	BARD1	4	c.448 C > T	p.Arg150Ter	HET	stopgain	pathogenic	chr2:215646150	G	A

ISSN: 1471-2407