Table 2 List of pathogenic and likely pathogenic variants identified
Gene Transcript | cDNA change | Protein change | Variant Type | Consequence | IARC | Sex | Age at diagnosis | Personal history (age) | Familial history (cases) |
|---|---|---|---|---|---|---|---|---|---|
BRCA1 NM_007294 | c.5468-1G > A | p.(?) | SNV | Splicing | C5 | F | 69 | breast (42, 55) | pancreas (1), breast (1), uterus (1) |
BRCA2 NM_000059 | c.6039del | p.(Val2014TyrfsTer26) | del | Frameshift | C5 | M | 63 | none | breast (1), stomach (1), lung (1), brain (1) |
BRCA2 NM_000059 | c.8364G > A | c.8364G > A | SNV | Missense | C5 | M | 72 | none | NA |
BRCA2 NM_000059 | c.1532_133insT | (p.Pro512ThrfsTer2) | ins | Frameshift | C5 | M | 61 | none | lung (1), prostate (1) |
ATM NM_000051 | c.3275C > A | p.(Ser1092*) | SNV | Nonsense | C5 | M | 44 | NA | NA |
ATM NM_000051 | c.4236 + 2 T > A | p.(?) | SNV | Splicing | C4 | F | 56 | none | none |
PALB2 NM_024675 | c.2167_2168del | p.(Met723Valfs*21) | del | Frameshift | C5 | F | 44 | none | breast (1), colon (1), head and neck (1) |
RAD50 NM_005732 | c.1636-1G > A | p.? | SNV | Splicing | C4 | M | 53 | none | none |