79 Olaparib in patients with biallelic BRCA1/2 inactivation 14 smMIP + MLPA 29 Oct 2018 BRCA1 c.3756_ 3759delGTCT; p.Ser1253fs (82%) LOH n/a n/a Yes n/a 60% 15 NGS panel (Foundation One) 29 Jan 2019 unknown BRCA2 Tyr1762* n/a n/a Unknown n/a Unknown 16 Germline test + 2 functional HRDtests$ Dec 2015 BRCA2 c.9104A>C; p.Y3035S (50%) Funtional 50% decrease in HR; RAD51 staining negative$ n/a n/a No n/a Unknown 17 WGS 06 Feb 2017 none BRCA2 c.2836G>C; p.Asp946His (89%) BRCA2 c. 9519C>A; p. Cys3173* (27%) 0.00 No TP53 c.673-2A>C (54%), APC c.835-8A>G (60%), High mutational load 177 mutations across the genome, tumor is MSS 70% 18 WGS 26 Dec 2016 none BRCA2 c.8524C>T p.Arg2842Cys (50%) n/a 0.00 No RBPJ-NTRK3 fusion, AR amplification (46x) PTEN copy-loss (0 copies), RB1 copy-loss (0 copies) TP53 homozygous disruption 50% 19 Germline test 28 Apr 2016 BRCA2 c.8167G>C; p.Asp2723His unknown n/a n/a Unknown n/a n/a 20 Germline test + WGS 18 Jan 2018 BRCA2 c.6257_ 6276delTT; p.Leu209fs (85%) none n/a 0.99 Yes TP53 1024C>T; p.Arg342* (100%), KRAS c.34G>C; p.Gly12Arg (81%); KEAP p.Cys434* RB1 homozygous disruption 45% 21 WGS 12 May 2018 none BRCA2 copy loss (0 copies) n/a 0.95 Yes TP53 c.759_763delCATCA; p.p.Ile254fs (100%), CTNNB1 c.133T>C; p.Ser45Pro (52%), RB1 copy loss (0 copies) 92% 22 Germline test Unknown BRCA2 c.3847 _3848delGT; p.Val1283fs unknown n/a n/a Unknown n/a n/a 23 MLPA 03 May 2017 none BRCA1 exon 1 deletion n/a na Unknown n/a Unknown 24 WGS 10 Jun 2017 none BRCA2 c.7044 delT; p.Ph e2349fs (33%) n/a 0.00 No TP53 c.626_627delGA; p.Arg209fs (59%), APC c.3955delC; p.Pro1319fs (68%), KRAS c.35G>A; p.Gly12Asp (49%), SMAD4 c.1282A>G, p.Lys428Glu (62%) 40% 25 WGS 06 Mar 2017 none BRCA2 copy loss (0 copies) n/a 0.98 Yes TP53 c.927delC; p.Pro309fs (81%), PTEN copy loss (0 copies) AR amplification (9x), CTNNB1 c.97T>C; p.Ser33Pro (24%) TMPRSS2-ERG fusion 90% 26 WGS 12 Oct 2017 none BRCA2 c.1301_ 1304delAAAG; p.Lys437fs (100%) n/a 1.00 Yes TP53 c.583A>T; p.Ile195Phe (100%) 30% 27 NGS panel (Archer FusionPlex CTL Panel) 03 Sep 2018 none BRCA2 c.5946delT; p.Ser1982fs (68%) LOH n/a Yes n/a 50% 3
RkJQdWJsaXNoZXIy MTk4NDMw