Table 3.
PALB2 variants identified in hereditary diffuse gastric cancer sequencing studies
| Race | Patient ID | Diagnosis of proband (age at diagnosis in years) | Variant | Consequence | Protein change | |
|---|---|---|---|---|---|---|
| Hansford et al (2015)4 | European | P124 | Diffuse gastric cancer (45) | c.1193AC→A | fs deletion | Val398fs |
| Sahasrabudhe et al (2017)10 | European | CG-12 | Intestinal gastric cancer (69) | c.1240C→T | Stop-site gain | Arg414Ter |
| Sahasrabudhe et al (2017)10 | European | CG-008 | Diffuse gastric cancer (48) | c.1240C→T | Stop-site gain | Arg414Ter |
| Sahasrabudhe et al (2017)10 | European | GM037589 | Gastric cancer (46) | c.1240C→T | Stop-site gain | Arg414Ter |
| Sahasrabudhe et al (2017)10 | European | CG-05 | Diffuse gastric cancer (50) | c.3201+1G→T | Splice-site variant | NA |
| Sahasrabudhe et al (2017)10 | European | CG-039 | Diffuse gastric cancer (47) | c.1882_1890delAAGTCCTGC | In-frame deletion | Lys628_Cys630del |
| Sahasrabudhe et al (2017)10 | Latin American | CG-028 | Intestinal gastric cancer (81) | c.1882_1890delAAGTCCTGC | In-frame deletion | Lys628_Cys630del |
| Sahasrabudhe et al (2017)10 | Latin American | 3CG-103 | Mixed (79) | c.2753C→A | Missense | Pro918Gln |
| Fewings et al (this study) | European | GST_172_301 | Diffuse gastric cancer (55) | c.757_758TAG→T | fs deletion | Leu253fs |
| Teixeira (unpublished) | European | GM048157 | Diffuse gastric cancer (56) | c.1438A→T | Stop-site gain | Lys480Ter |
None of the identified PALB2 variants appeared in the 1000 Genomes Project European samples or in the Exome Aggregation Consortium European datasets. fs=frameshift. NA=not applicable.