Table 3.
Mutation detection in unclassified FA patients.
| Sample | Gene | Mut 1 | Effect 1 | Mut 2 | Effect 2 | Note |
|---|---|---|---|---|---|---|
| Unc1 | BRCA2 | c.T8067A | p.C2689X | c.9672_9673insA | p.I3224fs | [10, 11] |
| Unc2 | FANCD2 | c.904C>T | p.R302W | c.2715+1G>A | splicing | [12, 13] |
| Unc3 | FANCI | c.G3041A | p.C1014Y | c.G3041A | p.C1014Y | Novel |
| Unc4 | FANCL | c.755_756insAT | p.M252fs | c.755_756insAT | p.M252fs | Novel |
| Unc5 | — | NF* | — | NF* | — | — |
Annotations are based on the following transcripts: BRCA2, NM_000059.3; FANCD2, NM_033084.3; FANCI, NM_001113378.1; FANCL, NM_001114636.1.
*NF = not found.