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