Table 5 BRCA2 variants of unknown significance (VUS)
From: Hereditary breast and ovarian cancer in Andalusian families: a genetic population study
Gene | c.DNA (HGVS) | Prot. (HGVS) | Variant Type | Clinical data |
|---|---|---|---|---|
BRCA2 | c.5836 T > C | p.Ser1946Pro | Misssense | Two cases of Breast Cancer (BC), one bilateral before 40 |
BRCA2 | c.6323G > T | p.Arg2108Leu | Misssense | One case of BC before 30 and three cases of prostate cancer |
BRCA2 | c.9501 + 3A > T | IVS25 + 3A > T | Splice site | One case of Triple negative BC before 40 |
BRCA2 | c.8022_8030delGATAATGGA | p.Lys2674Lysdel | IFD | Two cases of BC before 50 |
BRCA2 | c.10186A > C | p.Ser3396Arg | Misssense | Two cases of BC before 50 |