Table 1. Characteristics of Included Studies.
| Reference | Mutation | BRCA mut | BRCA- | Total patients | Study population | Age (mean or median) | Follow-up (mean or median) | Proportion ER+ | Proportion PR+ | Proportion metastatic | HR adjusted for |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Bayraktar 2011 | BRCA | 114 | 113 | 227 | High-risk women with TNBC referred for genetic testing | 41 | 41 | 0% | 0% | 0% | Age, clinical stage, [*] |
| Bayraktar 2013 | BRCA1/BRCA2 | 41 | 154 | 195 | Women referred for BRCA testing | 39 | 34 | 59% | 43% | 100% | Nodal status, Grade, bisphosphonates, tripple negativity |
| Brekelmans 2007 | BRCA1/BRCA2 | 260 | 238 | 498 | Cases and controls (comparable BC patients) | 43 | 57 | 61% | 59% | 0% | T- and N-stage, grade, ER status, chemotherapy, endocrine therapy |
| Budroni 2009 | BRCA2 | 44 | 464 | 508 | Consecutive patients consenting for testing | 50 | nr | 74% | 56% | 6% | Pathologic T stage, pathologic N stage, M, ER, PR |
| Cortesi 2010 | BRCA1 | 80 | 931 | 1011 | High and intermediate risk patients undergoing testing; sporadic BC as control | nr | 72 | 67% | 62% | 0% | Stage, ER, PR, grade, age, chemotherapy |
| Goffin 2003 | BRCA1 | 30 | 248 | 278 | Ashkenazi Jewish women | 53 | 96 | 63% | nr | 41% | Tumor size, LN status, grade, p53 status |
| Gonzalez-Angulo 2011 | BRCA | 15 | 62 | 77 | Patients with TNBC | 51 | 43 | 0% | 0% | 0% | Pathological stage, grade, [*] |
| Goodwin 2012 | BRCA1/BRCA2 | 166 | 1550 | 1716 | Population-based cohort study | 45 | 95 | 71% | 70% | 2% | Age, tumor and LN stage, grade, ER, PR status, year of diagnosis |
| Hamann 2000 | BRCA1 | 36 | 49 | 85 | Patients with hereditary BC | 42 | 68 | nr | nr | 0% | Age, bilaterality |
| Huzarski 2013 | BRCA1 | 233 | 3112 | 3345 | Unselected women with newly diagnosed BC | 42 | 89 | 59% | 66% | 49% | Year of birth, age, ER, PR, Her2, size, nodes, oophorectomy, tamoxifen, chemotherapy |
| Nilsson 2014 | BRCA1/BRCA2 | 20 | 201 | 221 | Unselected women offered BRCA1/2 germline testing | 36 | 228 | 51% | 58% | 0% | Age, TNM stage, (neo)adjuvant chemotherapy, tumor grade, ER status |
| Rennert 2007 | BRCA1/BRCA2 | 128 | 1189 | 1317 | Incident cases of invasive breast cancer | 56 | nr | 62% | nr | 42% | Age, tumor size, LN status, metatases |
| Stoppa-Lyonnet 2000 | BRCA1 | 42 | 150 | 192 | Patients with BC and a family history of breast and/or ovarian cancer | 42 | 58 | 56% | 60% | 26% | LN status |
| Verhoog 1998 | BRCA1 | 49 | 196 | 245 | BRCA1 carriers matched with controls with sporadic BC | 40 | nr | 61% | 61% | 4% | Tumor stage, [**] |
| Verhoog 1999 | BRCA2 | 28 | 112 | 140 | BRCA2 carriers matched with controls with sporadic BC | 46 | nr | 86% | 81% | 1% | Tumor stage, [**] |
| Veronesi 2005 | BRCA | 39 | 86 | 125 | Patients with breast cancer and a family history of breast or ovarian cancer | 40 | 69 | 68% | 68% | 43% | Age, grade |
BC, breast cancer; ER, estrogen receptor; Her2, human epithelial growth factor receptor 2; LN, lymphnode; nr, not reported; OS, overall survival; PR, progesterone receptor.
* studies involved only patients with triple negative breast cancer;
** groups were matched according to age