Table 3 Mutations identified in LP tumor cells in HRD-related genes.
Gene | Case 1 | Case 3 | Case 4 | Case 5 | Case 6 |
---|---|---|---|---|---|
ATM | p.Ser1250Tyr * | ||||
BARD1 | p.Asp172His * | p.Ser186Gly * | |||
BLM | p.Leu1042TrpfsTer2 + | ||||
BRCA1 | p.Asp1546Asn * | p.Lys1207Asn * | |||
BRCA2 | p.Asp381Tyr * | p.Ala1648Thr * | |||
BRIP1 | p.Met425Val * | p.Val894Ala, p.Arg162Ter # | |||
NBN | p.Gln448Ter # | p.Glu383Ter # | |||
RAD50 | p.Glu1033Ter # |