Table 3:
Germline Mutation Detail, Intrahepatic Cholangiocarcinoma
| Mutation | Transcript | Alteration | Penetrance | Age | Sex | Ethnicity | Personal History of Other Cancer | 1st Degree Family Hx | 2nd Degree Family Hx |
|---|---|---|---|---|---|---|---|---|---|
| APC | NM_000038 | c.3920T>A (p.Ile1307Lys) | Low | 72 | F | AJ | Y | Y | |
| ATM | NM_000051 | c.3669_3670insTAG (p. Leu1224*) | Moderate | 36 | F | Caucasian | Y | Y | |
| BAP1 | NM_004656 | c.784-1G>A | High | 51 | F | African American | Y | ||
| BRCA1 | NM_007294 | c.68_69delAG (p.Glu23Valfs*17) | High | 72 | M | AJ | Y | Y | |
| BRCA2 | NM_000059 | c.4131_4132insTGAGGA (p.Thr1378*) | High | 56 | F | AJ | Y | Y | Y |
| BRCA2 | NM_000059 | c.3215T>G (p.Leu1072*) | High | 50 | M | Asian | Y | Y | |
| FH* | NM_000143 | c.1431_1433dupAAA (p.Lys477dup) | Recessive | 60 | M | Caucasian | Unknown | Unknown | |
| MITF | NM_000248 | c.952G>A (p.Glu318Lys) | Moderate | 52 | F | Caucasian | Y | Y | |
| MUTYH | NM_001128425 | c.1187G>A (p.Gly396Asp) | Low | 38 | M | Caucasian | Y | Y | |
| MUTYH | NM_001128425 | c. 1437_1439delGGA (p.Glu480del) | Low | 41 | M | Caucasian | Y | Y | |
| PALB2 | NM_024675 | c.3549C>G (p.Tyr1183*) | High | 43 | F | Caucasian | |||
| PMS2 | NM_000535 | c.943C>T (p.Arg315*) | High | 36 | F | Caucasian | Y |