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Table 2 Pathogenic variants identified in individuals affected with cancer and unaffected individuals with cancer familial history

From: Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation

Gene Exon rsID HGVS_DNA HGVS_
protein
Type of mutation Impact Cancer history
(n° probands)
APC 16 c.2195dupA p.Asn732fs Frameshift High FAP (1) and family history of FAP (2)
BRCA1 10 rs80357296 c.3544C > T p.Gln1182* Stop gained High Breast cancer (1)
BRCA1 10 rs80357522 c.1961delA p.Lys654fs Frameshift High Breast cancer (2)
CDH1 7 rs587780784 c.1003C > T p.Arg335* Stop gained High Breast cancer (1)
CDH1 8 rs587776398 c.1023 T > G p.Tyr341* Stop gained High Gastric cancer (1)
MSH2 3 rs63750704 c.388_389delCA p.Gln130fs Frameshift High Gastric cancer(1)
MUTYH 13 rs36053993 c.1187G > A p.Gly396Asp Missense Moderate Breast cancer (2) and colonic polyps (1)
MUTYH 12 rs587778536 c.1147delC p.Ala385Profs Frameshift High Colonic polyps (1)
  1. FAP familial adenomatous polyposis, Human Genome Variation Society (HGVS), rsID in dbSNP (rsID)