| Syndrome | Cancer type | Gene | cDNA | Protein | Consequence |
|---|
| HNPCC | Ov | ATM | c.5979_5983delTAAAG | p.Ser1993Argfs | Frameshift |
| HNPCC | Ov | ATM | c.1339C > T | p.Arg447Ter | Nonsense |
| HBOC | Br | BLM | c.1642C > T | p.Gln548Ter | Nonsense |
| HBOC | Br | BRCA2 | c.658_659delGT | p.Val220fs | Frameshift |
| HBOC | Br | BRCA2 | c.2808_2811delACAA | p.Ala938fs | Frameshift |
| HBOC | Br | BRIP1 | c.206-2A > G | – | Splicng |
| HNPCC | Ov | BRIP1 | c.1140 + 1G > Ca | – | Splicng |
| HBOC | End | CHEK2 | c.593-1G > T | – | Splicng |
| HBOC | Col | CHEK2 | c.1427C > T | p.Thr476Met | Missense |
| HNPCC | Gas | MLH1 | c.2239_2240insAGCCTGATACTATATCCTGCAGC | p.Pro747fs | Frameshift |
| HNPCC | Br | MSH2 | c.211G > C | p.Gly71Arg | Missense |
| HNPCC | Br | MSH2 | c.2131C > T | p.Arg711Ter | Nonsense |
| HNPCC | Br | MUTYH | c.1147delC | p.Ala385fs | Frameshift |
| HNPCC | Skin | MUTYH | c.1187G > A | p.Gly396Asp | Missense |
| HNPCC | Col | MUTYH | c.1187G > A | p.Gly396Asp | Missense |
| HNPCC | Gas | MUTYH | c.1187G > A | p.Gly396Asp | Missense |
| HNPCC | Col | MUTYH | c.1187G > A | p.Gly396Asp | Missense |
| HNPCC | Col | PMS2 | c.137G > T | p.Ser46Ile | Missense |
- cDNA and Protein changes are named according to the HGVS nomenclature
- Reference sequence: ATM (NM_000051.3), BLM (NM_000057.3) BRCA1 (NM_007300.3) BRCA2(NM_000059.3) BRIP1 (NM_032043.2) CHEK2 (NM_007194.3) MLH1 (NM_000249.3) MSH2 (NM_000251.2) MSH6 (NM_000179.2) MUTYH (NM_005591.3) PMS2 (NM_000535.6)
- The cancer type of the index case is indicated according to the following abbreviations: Br breast cancer, Col colon cancer, End endometrial cancer, Gas gastric cancer, Ov ovarian cancer, Skin skin cancer
- aNot previously reported
