Table 2.
Studies performing multigene panel testing in MBC patients.
| Author, Year | Cohort | Panel Size | Detection Rate | Gene with PV (%) | Observations |
|---|---|---|---|---|---|
| Tedaldi et al. 2020 [97] | 70 patients selected from genetic counselling | 94 genes | 21.4% | BRCA2 (8.6), BRCA1 (4.3), PALB2 (1.4), CHEK2 (1.4), ATM (1.4), RAD51C (1.4), BAP1 (1.4), EGFR (1.4) | Two patients (2.9%) had a second contralateral MBC, and 16 (22.9%) had a second non-BC malignancy. Twenty-four patients (34.3%) had first- and/or second-degree relatives with BC/OC, and 17 patients (24.3%) had first- and/or second-degree relatives with other cancers. Three patients (4.3%) had a FH of MBC among first-degree relatives. |
| Gaddam et al. 2020 [96] | 414 men who underwent MGPT for a variety of clinical indications. Eighteen patients had PH of BC. | Several commercial panels | 27.8% | BRCA2 (16.7), NBN (5.6), BARD1 (5.6) a | |
| Scarpitta et al. 2019 [95] | 81 patients selected from genetic counselling | 24 genes involved in breast and ovarian cancer predisposition, maintenance of genome stability and DNA repair | 18.5% |
BRCA2 (13.6), BRIP1 (2.5), MUTYH (1.2), PMS2 (1.2) |
Twelve patients developed BC before 50, 10 had a diagnosis of another primitive cancer, and 1 had a bilateral BC. The most common additional cancer was prostate cancer, with a 40% (4/10) frequency rate. In this cohort, 37% (30/81) reported to have BC/OC history among first-degree relatives. |
| Rizzolo et al. 2019 [120] | 523 patients, unselected for age at diagnosis and FH of cancer from 13 Italian Investigator Centers | 50 genes | 9.0% | BRCA2 (2.9), PALB2 (1.1), BRCA1 (1.0); ATM (0.6); APC (0.4), BARD1 (0.4), BLM (0.4), CHEK2 (0.4), FANCM (0.2), RAD51D (0.4), CASP8 (0.2), EPCAM (0.2), MUTYH (0.2), NF1 (0.2), RAD50 (0.2), RAD51C (0.2) | This study included 80 cases with no prior BRCA1/2 testing and 443 cases negative for BRCA1/2. Eighty-seven (16.7%) had first-degree FH of BC/OC and 230 (44.1%) of any cancer. PH of other cancers, mostly prostate, colorectal, and bladder cancer, was observed in 99 cases (18.9%). |
| Fostira et al. 2018 [94] | 102 patients unselected for FH and age at diagnosis | 94 genes | 12.7% | BRCA2 (6.9), ATM (2.0), BRCA1 (1.0), CHEK2 (1.0), PMS2 (1.0), FANCL (1.0) | Fifteen percent (15/102) of the patients were diagnosed with a second primary cancer, of which colorectal and duodenal cancer represented one-third of them. Other cancer types involved are prostate, thyroid, pancreatic, bladder, laryngeal, and non-Hodgkin’s lymphoma. Two of these patients were diagnosed with a metachronous BC. |
| Vogel Postula et al. 2018 [93] | 381 patients | 8 to 32 genes | 12.1% | BRCA2 (5.5); CHEK2 (4.5); PALB2 (1.0); BRCA1 (1.0); ATM (0.5) b | Three hundred and fifteen patients with no prior BRCA1/2 testing and 66 negatives for BRCA1/2. |
| Pritzlaff et al. 2017 [92] | 708 patients (538 Caucasian or Ashkenazi Jewish) | 16 genes | 18.1% | BRCA2 (8.1), CHEK2 (3.8), ATM (1.0), BRCA1 (0.9), PALB2 (0.8), NF1 (0.6), BARD1 (0.4), BRIP1 (0.2), MRE11A (0.2), NBN (0.2), RAD51D (0.2) | The study included 551 cases with no prior BRCA1/2 testing and 197 cases negative for BRCA1/2. Four percent of MBC patients had a second primary BC, and additional non-breast primary cancers were reported for 23.4%. The most common additional cancer was prostate cancer (9.5%). A FH of MBC was reported for 6.4% of patients. |
| Susswein et al. 2016 [91] | 10,030 individuals (men and women) referred for evaluation by an NGS hereditary cancer panel. Included 51 men with history of BC. | Several commercial panels (up to 29 genes) | 11.8% | CHEK2 (7.8), BRCA2 (2.0), PALB2 (2.0), BRCA1 (2.0) | |
| Tung et al. 2015 [13] | 2158 individuals (men and women). Included 22 men with a PH of BC. | 25 genes | 31.8% | BRCA2 (13.6); CHEK2 (4.5); PALB2 (4.5); BRCA1 (4.5); ATM (4.5) c | The study included 1781 individuals who were referred for commercial BRCA1/2 testing and 377 individuals who previously tested negative for BRCA1/2 mutations through an academic high-risk program |
FH: family history; =, BC: breast cancer, OC: ovarian cancer, PH: personal history, and NGS: next-generation sequencing. a—Data refers only to the 18 patients with BC history, b—other genes not reported, and c—data refers only to the 22 men with BC history.