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. 2021 Aug 24;28(5):3227–3239. doi: 10.3390/curroncol28050280

Table 3.

Genetic testing performed in each patient.

Patient Genetic Variant Identified Genetic Screening Performed
1 BRCA1 (c.212+3A>G, p.?) Analysis of known family variant
2 BRCA2 (c.6644_6647del, p.Ty2215Serfs*13) Analysis of known family variant
3 CHEK2 (c.1100del, p.Thr367Metfs*15) Analysis of known family variant
4 BRCA2 (c.516+1G>A, p.?) Analysis of known family variant
5 BRCA1 (c.5186T>A, p.Leu1729Gln) ATM, BRIP1, CDH1, CHEK2, MLH1, MSH2, MSH6, NBN (only c.657_661del), PALB2, PTEN, RAD51C, RAD51D, TP53
Additional testing: NGS sequencing of tumor tissue
6 BRCA2 (c.4936_4939del, p.Glu1646Glnfs*23) Analysis of known family variant
7 BRCA1 (c.212+3A>G, p.?) Analysis of known family variant
8 No class 4 or 5 variant found HaloPlex panel
9 No class 4 or 5 variant found HaloPlex panel
10 No class 4 or 5 variant found HaloPlex panel
11 No class 4 or 5 variant found HaloPlex panel
12 No class 4 or 5 variant found HaloPlex panel
13 No class 4 or 5 variant found HaloPlex panel
14 No class 4 or 5 variant found HaloPlex panel
15 No class 4 or 5 variant found HaloPlex panel
16 No class 4 or 5 variant found BRCA hereditary cancer MASTR plus kit
17 No class 4 or 5 variant found BRCA hereditary cancer MASTR plus kit
18 No class 4 or 5 variant found BRCA hereditary cancer MASTR plus kit
19 No class 4 or 5 variant found FamCanc + Precision 2 trial (BMSO)
20 No class 4 or 5 variant found HaloPlex panel

Abbreviations: ATM = Ataxia Telangiectasia Mutated; BRCA1 = BRCA1 DNA Repair Associated; BRCA2 = BRCA2 DNA Repair Associated; BRIP1 = BRCA1 interacting protein C-terminal helicase 1; CDH1 = cadherin 1; CHEK2 = checkpoint kinase 2; MLH1 = MutL Homolog 1; MSH2 = MutS Homolog 2; MSH6 = MutS Homolog 6; NBN = Nibrin; PALB2 = Partner And Localizer Of BRCA2; PTEN = Phosphatase And Tensin Homolog; RAD51C = RAD51 paralog C; RAD51D = RAD51 paralog D; TP53 = Tumor Protein P53; NGS = next generation sequencing.