Table 4.
Main findings of the included studies on the prevalence of BRCAm in patients with endometrial cancer.
| Author | Total Patients | Age, yr [Mean ± SD/Median (Range)] † | Genotyping | Total EC | EC Histopathology (n. of Patients; %) | USC | EC with Previous Breast Cancer | EC in Patients Using Tamoxifen | Positive Family History of Breast Cancer | Number of BRCA Mutated Patients | EC with BRCAm (%) | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Type | BRCA Mutation | Other Genes Tested | FIGO Stage | Grade | BRCA 1 | BRCA 2 | Tot | |||||||||
| Barak et al. [8] | 289 | 63 ± 12 | Traditional Sanger | BRCA1 (185delAG, 5383InsC, Tyr978X) BRCA2 (6174delT, 8765delAG) |
- | 289 | In situ (2, 0.7%) I (234, 81%) II (24, 8%) III (25, 9%) IV (4, 1%) |
In situ (2, 0.7%) I (168, 58%) II (50, 17%) III (69, 24%) |
34 | NA | NA | NA | 4 | 1 | 5 | 1.7 |
| Biron-Shental et al. [23] | 22 | 72 (56–79) | Traditional Sanger | BRCA1 (185delAG, 5382insC) BRCA2 (6174delT) |
- | 22 | I-II (9, 41%) III-IV (13; 59%) |
NA | 22 | 7 | NA | 7 | 3 | 3 | 6 | 22.7 |
| Bruchim et al. [24] | 31 | 72 (47–87) | Traditional Sanger | BRCA1 (185delAG, 5382insC) BRCA2 (617delT) |
- | 31 | I-II (16, 52%) III-IV (15; 48%) |
NA | 31 | 7 | 6 | 5 | 4 | 4 | 8 | 25.8 |
| Goshen et al. [20] | 56 | NA | Traditional Sanger | BRCA1 (185del AG, 5382insC, dup(ex13)) BRCA2 (6174delT) |
- | 56 | I (27; 48%) II (6, 11%) III (13, 23%) IV (6, 11%) NA (4, 7%) |
NA | 56 | 6 | NA | 6 | 0 | 0 | 0 | 0 |
| Kadan et al. [27] | 64 | 66 ± 9.7 ** | Traditional Sanger | BRCA1 (185delAG, 5382insC) BRCA2 (6174delT) |
- | 64 | I (32; 50%) II (3, 5%) III (12, 19%) IV (16, 25%) NA (1, 1%) |
NA | 64 | 18 | NA | NA | 9 | 5 | 14 | 21.9 |
| Lavie et al. [22] | 20 | 72 (56–91) |
Traditional Sanger | BRCA1 (185delAG, 5382insC) BRCA2 (6174delT) |
- | 20 | I (NA, 30%) II (NA, 15%) III (NA; 40%) IV (NA, 15%) |
NA | 20 | 7 | NA | 7 | 4 | 0 | 4 | 20 |
| Levine et al. [21] | 199 | 66 ± 11 | Traditional Sanger | BRCA1 (185delAG, 5382insC) BRCA2 (6174delT) |
- | 199 | I (144; 72%) II (17, 9%) III (22, 11%) IV (14, 7%) NA (2, 1%) |
1 (73, 37%) 2 (70, 35%) 3 (53, 27%) NA (3, 1%) |
17 | NA | NA | NA | 1 | 2 | 3 | 1.5 |
| Mahdi et al. [26] | 241/628 * | 68 (44–94) | NGS | NA | ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CSF1R, CTNNB1, EGFR, ERBB2, ERBB4, FBXW7, FGFR1, FGFR2, FLT3, GNA11, GNAS, GNAQ, HNF1A, HRAS, IDH1, JAK2, JAK3, KDR (VEGFR2), KIT, KRAS, MET, MLH1, MPL, NOTCH1, NPM1, NRAS, PDGFR, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1,SMO, STK11, TP53, VHL |
628 | NA | NA | 628 | NA | NA | NA | 3 | 2 | 5 | 0.8 |
| Niederacher et al. [19] | 113 | NA | Traditional Sanger | BRCA1-D17S855 | TP53- AFM051, TCRD, ESR, D11S35, D16S511 | 113 | I (69; 61%) II (18, 16%) III (15, 13%) IV (11, 10%) |
1 (52, 46%) 2 (30, 27%) 3 (21, 19%) NA (10, 8%) |
106 | NA | NA | NA | 13 | 0 | 13 | 11.5 |
| Pennington et al. [25] | 151 | 68 | NGS | NA | APC ATM BAP1 BARD1 BMPR1A BRIP1 BUB1B CDH1 CDK4 CDKN2A CHEK2 KIT MLH1 MRE11A MSH2 (.EPCAM) MSH6 MUTYH NBN PALB2 PMS2 TEN (.KILLIN) RAD50 RAD51C RET SMAD4 STK11 TP53 VHL |
151 | I (61; 40%) II (16, 11%) III (34, 23%) IV (38, 25%) NA (2, 1%) |
NA | 151 | 2 | NA | 22 | 3 | 0 | 3 | 2 |
| Vietri et al. [28] | 40 | 35 (20–54) *** | NGS | MLH1, MSH2 | 40 | NA | NA | NA | NA | NA | 6 | 3 | 9 | 22.5 | ||
USC: uterine serous carcinoma; BRCAm breast cancer gene mutated patient, EC endometrial cancer, NA not available. † Data are expressed in mean or median as reported in each study. * Mahdi et al. included 5936 patients, of whom 5335 were affected by an ovarian serous carcinoma and 628 were affected by endometrial cancer, of which 241 were tested with NGS. ** Mean age of BRCA mutation carrier group. *** Mean age in EC patients.