Table II.
Multigene panel testing results among the categories of tested individuals.
| Positive in gene categories | |||||||
|---|---|---|---|---|---|---|---|
|
|
|||||||
| Individuals | N | Positive, % | BRCA1 and BRCA2, % | Other high-riska, % | Moderate riskb, % | Low/unknown V riskc, % | US, % |
| Total individuals | 215 | 15.8 | 6.0 | 0.9 | 3.7 | 2.2 | 47.4 |
| SG | 38 | 13.2 | 2.6 | 0.0 | 5.2 | 5.2 | 52.6 |
| CG | 177 | 16.4 | 6.7 | 1.1 | 3.3 | 5.0 | 46.3 |
| FH of BC | 107 | 24.3 | 10.2 | 0.9 | 4.6 | 8.4 | 21.4 |
| SG | 17 | 29.4 | 5.8 | 0.0 | 11.7 | 11.7 | 58.8 |
| CG | 90 | 23.3 | 12.2 | 1.1 | 3.3 | 7.7 | 40.0 |
| FH of any cancer | 187 | 17.1 | 6.9 | 1.0 | 3.7 | 5.3 | 46.5 |
| SG | 34 | 14.7 | 2.9 | 0.0 | 5.8 | 5.8 | 55.9 |
| CG | 153 | 17.6 | 7.8 | 1.3 | 3.2 | 5.2 | 44.6 |
CDH1, PALB2, PTEN, STK11, TP53;
ATM, CHEK2, NBN;
APC, BMPR1A, CDK4, CDKN2A, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, PMS2, RET, SMAD4, VHL, BRIP1, RAD51C, RAD51D, BARD1, CHEK1, MRE11 (MRE11A), NF1, RAD50, RAD51B. BC, breast cancer; FH, family history; SG, study group; CG, control group; VUS, variant of uncertain significance; PALB2, partner and localizer of BRCA2; STK11, serine/threonine-protein kinase STK11; ATM, serine-protein kinase ATM; CHEK2, serine/threonine-protein kinase Chk2; NBN, nibrin; BMPR1A, bone morphogenetic protein receptor type-1A; EPCAM, epithelial cell adhesion molecule; MEN1, menin; MLH1, DNA mismatch repair protein Mlh1; MSH2, DNA mismatch repair protein Msh2; MSH6, DNA mismatch repair protein Msh6; MUTYH, adenine DNA glycosylase; PMS2, mismatch repair endonuclease PMS2; RET, proto-oncogene tyrosine-protein kinase receptor Ret; VHL, von Hippel-Lindau disease tumor suppressor; BARD1, BRCA1-associated RING domain protein 1; CHEK1, serine/threonine-protein kinase Chk1; MRE11, double-strand break repair protein MRE11; NF1, neurofibromin; RAD50, DNA repair protein RAD50; RAD51B, DNA repair protein RAD51 homolog 2.