Hanneke van der Wijngaart

81 Olaparib in patients with biallelic BRCA1/2 inactivation 14 BRCA1 c.3756_3759delGTCT; p.Ser1253fs (80%) none n/a 0.99 Yes MECOM amplification (13x), NF1 copy loss (0 copies) PIK3CA c.263G>A; p.Arg88Gln (78%), PTEN copy loss (0 copies) TP53 c.818G>A; p.Arg273His (100%) 62% 15 none BRCA2 c.5286T>A; p.Tyr1762* (51%) n/a Unknown (due to low purity) Unknown (due to low purity) unknown Unknown 16 BRCA2 c.9104A>C; p.Tyr3035Ser (50%) None n/a 0.11 No TP53 c.352dupA; p.Thr118fs (70%), CCNE1 amplifcation (18x) MYC amplification (15x), PTEN copy-loss (0 copies), AD21 amplification (16x) SMARCA4 copy-loss (0 copies) 90% 17 none BRCA2 c.2836G>C; p.Asp946His (32%) BRCA2 c.9519C>A; p.Cys3173* (24%) 0.00 No TP53 c.673-2A>C (97%), APC c.835-8A>G (100%), KRAS amplification (33 copies), High mutational load 168 mutations across the genome 40% 18 none BRCA2 c.8524C>T; p.Arg2842Cys (41%) n/a 0.00 No RBPJ-NTRK3 fusion, AR amplification (46x) PTEN copy-loss (0 copies), RB1 copy-loss (0 copies) TP53 homozygous disruption 70% 19 BRCA2 c.8167G>C; p.Asp2723His BRCA2 c.3812C>A; p.Ser1271* (59%) BRCA1 c.67+1G>T (65%) 1.00 Yes CDKN2A copy loss (0 copies); TGFBR2 homozygous disruption KRAS c.35G>T; p.Gly12Val 41% 20 TCP < 30% 21 TCP < 30% 22 BRCA2 c.3847_3848delGT; p.Val1283fs (59%) BRCA2 c.9089_9090insA; p.Thr3033fs (25%) n/a 1.00 Yes FGFR1 amplification (18 copies); PTEN copy loss (0 copies) CHEK2 c.1229delc; p.Thr410fs (germline), ESR1 c.1610A>C; p.Tyr537Ser (32%) 70% 23 none none n/a 0.00 No TP53 c.1015_1017delGAGinsAA; p.Glu339fs (100%), PTEN copy loss (0 copies) AR amplification (18x) 76% 24 none BRCA2 c.7044delT; p.Phe2349fs (29%) n/a 0.00 No TP53 c.626_627delGA; p.Arg209fs (100%), APC c.3955delC; p.Pro1319fs (100%), KRAS c.35G>A; p.Gly12Asp (85%), SMAD4 c.1282A>G, p.Lys428Glu (100%) 30% 25 TCP < 30% 26 None None n/a 0.00 No KRAS c.35G>A; p.Gly12Asp (51%) TP53 c.189delT; p.Arg65fs (77%) 21% 27 n/a BRCA2 p.Ser1982fs; c.5946delT (83%) n/a 0.99 Yes APC c.4703A>C; p.Asp1568Ala (21%), KRAS p.Gly12Asp (33%); CDKN2A copy loss (0 copies); MSH2 c.2783C>A; p.Ser928* (42%, germline, tumor is not MSI) 37% 3

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