Patient ID | Sex | Mutation A | Mutation B | Other mutation |
P6 | Male | FANCL c.335C>T,(p.Ser112Leu) | PMS2 c.58C>T, (p.Arg20Trp) | FANCC c.239T>C, (p.Ile80Thr) |
P8 | Male | *ATM c.1402_1403delAA, (p.K468Efs) | MSH2 c.2649T>G, (p.Ile883Met) | |
P16 | Male | ATM c.2944C>T,(p.Arg982Cys) | PMS2 c.46A>G, (p.Lys16Glu) | |
P18 | Female | ATM c.1896del, (p.E632Dfs) | MLH1 c.1154G>A, (p.R385H) | PDE11A c.1303–2A>T; NSD1 c.487G>T, (p.Asp163Tyr) |
P49 | Male | BRCA2 c.7540A>G, (p.Lys2514Glu) | MLH1 c.1937A>G, (p.Tyr646Cys) | |
P4 | Female | CHEK1 c.184C>G,(p.Leu62Val) | ATM c.1351C>T, (p.Arg451Cys) | FANCI c.2183A>G, (p.Asp728Gly) |
P7 | Female | ATM c.6671T>C, (p.Met2224Thr) | FANCA c.1840C>T, (p.Pro614Ser) | |
P15 | Male | FANCA c.209A>G, (p.Lys70Arg) | BRCA2 c.5218_5223del, (p.Leu1740_Ser1741del) | GEN1 c.1201C>T, (p.Arg401Ter) |
P26 | Male | BRIP1 c.3240dup, (p.Ala1081CysfsTer5) | BRIP1 c.2301G>C, (p.Glu767Asp) | |
P42 | Male | BRCA1 c.3159A>C, (p.Glu1053Asp) | BRIP1 c.1954G>A, (p.Gly652Arg) | USHBP1 c.22C>A, (p.Pro8Thr) |
P58 | Male | BRCA2 c.3372G>C, (p.Gln1124His) | FANCA c.209A>G, (p.Lys70Arg) | |
P61 | Female | ATM c.7382G>A, (p.Arg2461His) | BRCA1 c.3327_3329del, (p.Lys1110del) | PALLD c.1017del, (p.Gly340ValfsTer35); RUNX3 c.58G>A, (p.Asp20Asn) |
P67 | Male | *BRIP1 c.1315C>T, (p.Arg439Ter) | ATM c.169T>C, (p.Trp57Arg) | EXT2 c.995G>A, (p.Ser332Asn); PDE11A c.764C>T, (p.Ser255Phe) |
P86 | Male | CHEK1 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.