Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin America

Table 4 Description of the single nucleotide variant found in the multigenic panel

Gene	HGVS Nucleotide change	HGVS Amino acid change	dbSNP rsID	VAF	Association with cancer	Ref
AXIN2	c.148 C > T	p.Pro50Ser	rs2240308	T: 0,322	BC, CCR, PC	[26,27,28,29]
BRCA1	c.3113 A > G	p.Glu1038Gly	rs16941	G: 0,375	General cancer risk	[30]
BRCA1	c.3548 A > G	p.Lys1183Arg	rs16942	G: 0,354	BC	[31, 32]
BRCA2	c.2971 A > G	p.Asn991Asp	rs1799944	G: 0,156	BC	[33, 34]
	c.7242 A > G	p.Ser2414=	rs1799955	G: 0,062	BC	[35]
	c.1114 A > C	p.Asn372His	rs144848	C: 0,322	BC, NHL	[36, 37]
CDH1	c.48 + 6 C > T	-	rs3743674	T: 0,656	BC	[38]
EPCAM	c.428T > C	p.Met143Thr	rs1126497	C: 0,458	BC, GC, CC	[39,40,41]
MSH3	c.3133G > A	p.Ala1045Thr	rs26279	A: 0,729	BC, CCR	[42, 43]
PIK3CA	c.1173 A > G	p.Ile391Met	rs2230461	G: 0,083	BC	[44]
WRN / RECQL2	c.4099T > C	p.Cys1367Arg	rs1346044	C: 0,145	BC	[45]
TP53	c.215 C > G	p.Pro72Arg	rs1042522	G: 0,552	BC, AML, LC	[37, 46,47,48]

Abbreviations HGVS: Human Genome Variation Society; -: intronic variant without effect on the protein, VAF: variant allele frequency in 48 patients. BC: breast cancer, GC: gastric cancer, CCR: colorectal cancer, LC: lung cancer, AML: acute myeloid leukemia, PC: prostate cancer, CC: Cervical cancer, NHL: Non-Hodgkin lymphoma

ISSN: 0717-6287