Table 1

Description of 14 patients with homologous recombination deficiency/mismatch repair double-muts

Patient IDSexMutation AMutation BOther mutation
P6MaleFANCL c.335C>T,(p.Ser112Leu)PMS2 c.58C>T, (p.Arg20Trp)FANCC c.239T>C, (p.Ile80Thr)
P8Male*ATM c.1402_1403delAA, (p.K468Efs)MSH2 c.2649T>G, (p.Ile883Met)
P16MaleATM c.2944C>T,(p.Arg982Cys)PMS2 c.46A>G, (p.Lys16Glu)
P18FemaleATM c.1896del, (p.E632Dfs)MLH1 c.1154G>A, (p.R385H)PDE11A c.1303–2A>T; NSD1 c.487G>T, (p.Asp163Tyr)
P49MaleBRCA2 c.7540A>G, (p.Lys2514Glu)MLH1 c.1937A>G, (p.Tyr646Cys)
P4FemaleCHEK1 c.184C>G,(p.Leu62Val)ATM c.1351C>T, (p.Arg451Cys)FANCI c.2183A>G, (p.Asp728Gly)
P7FemaleATM c.6671T>C, (p.Met2224Thr)FANCA c.1840C>T, (p.Pro614Ser)
P15MaleFANCA c.209A>G, (p.Lys70Arg)BRCA2 c.5218_5223del, (p.Leu1740_Ser1741del)GEN1 c.1201C>T, (p.Arg401Ter)
P26MaleBRIP1 c.3240dup, (p.Ala1081CysfsTer5)BRIP1 c.2301G>C, (p.Glu767Asp)
P42MaleBRCA1 c.3159A>C, (p.Glu1053Asp)BRIP1 c.1954G>A, (p.Gly652Arg)USHBP1 c.22C>A, (p.Pro8Thr)
P58MaleBRCA2 c.3372G>C, (p.Gln1124His)FANCA c.209A>G, (p.Lys70Arg)
P61FemaleATM c.7382G>A, (p.Arg2461His)BRCA1 c.3327_3329del, (p.Lys1110del)PALLD c.1017del, (p.Gly340ValfsTer35); RUNX3 c.58G>A, (p.Asp20Asn)
P67Male*BRIP1 c.1315C>T, (p.Arg439Ter)ATM c.169T>C, (p.Trp57Arg)EXT2 c.995G>A, (p.Ser332Asn); PDE11A c.764C>T, (p.Ser255Phe)
P86MaleCHEK1 c.1135C>T, (p.Arg379Ter)PALB2 c.3296C>G, (p.Thr1099Arg)
  • Cell shadow code: light grey: patients with HRD+MMR double-muts; blank background: patients with double HRD-muts.

  • *These gene mutations are classified as pathogenic/likely pathogenic in ClinVar.