Table 3.
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.