Table 5:
Germline Mutation Detail, Gallbladder Adenocarcinoma
| 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 | 53 | M | AJ | Y | Y | |
| BRCA2 | NM_000059 | c.7542_7549dup (p. Thr2517Lysfs*10) | High | 56 | F | Caucasian | Y | Y | |
| BRCA2 | NM_000059 | c.5946delT (p.Ser1982Argfs*22) | High | 59 | F | AJ | Y | Y | |
| BRCA2 | NM_000059 | c.5604_5605delCA (p.Asp1868Glufs*4) | High | 50 | M | Asian | Y | ||
| NBN | NM_002485 | c.383T>G (p.Leu128*) | Moderate | 48 | F | Asian |