Table 4.
Summary of non-Lynch mutations.
| Gene | Mutation | Age at Diagnosis | Histology | Family History |
|---|---|---|---|---|
| APC | c.847C>T (p.Arg283*) | 28 | Endometrioid | Bladder Cancer – FDR1 unknown age CRC2 – FDR 47 |
| ATM | c.2921+1G>A | 76 | Endometrioid | Breast Cancer – SDR3 unknown age Renal Cancer – SDR unknown age |
| BARD1 | c.1690C>T (p.Gln564*) | 59 | Mixed Serous and Clear Cell | Breast Cancer – SDR unknown age |
| BRCA1 | c.5266dupC (p.Gln1756Profs*74) | 55 | Endometrioid | None |
| BRCA2 | c.5073dupA (p.Trp1692Metfs*3) | 58 | Serous | Breast Cancer – FDR 79 |
| BRIP1 | c.2114_2118del (p.Lys705Thrfs*10) | 58 | Serous | Pancreatic Cancer – FDR 61 CRC – SDR unknown age |
| CHEK2 | c.1100del (p.Thr367Metfs*15) | 60 | Endometrioid | None |
| CHEK2 | c.1100del (p.Thr367Metfs*15) | 52 | Endometrioid | Breast Cancer – SDR 35 |
| CHEK2 | c.1100del (p.Thr367Metfs*15) | 56 | Endometrioid | Breast Cancer – SDR 60 Breast Cancer – TDR 60 Gastric Cancer – SDR 50 |
| CHEK2 | c.1100del (p.Thr367Metfs*15) | 57 | Clear Cell | None |
| NBN | c.11del (p.Leu4Argfs*16) | 78 | Endometrioid | Breast Cancer – FDR 55 |
| PTEN | c.697C>T (p.Arg233*) | 35 | Endometrioid | Breast Cancer – SDR 70 CRC – SDR unknown age |
| RAD51C | del exons 6–9 | 78 | Serous | Pancreatic Cancer – FDR 62 |
1
FDR = first degree relative,
2
CRC = colorectal cancer,
3
SDR =second degree relative