Table 1.
Characteristics of the included studies.
| Authors, year | Setting | Program | BRCAm/Tot∗ | Study groups available for comparison | Design of the study | Age | Restriction or matching for major confounding factors/adjusted variables | ||
|---|---|---|---|---|---|---|---|---|---|
| Titus S, 2013 | BC | ART (FP) | 24/84 | 15 BRCAlm BC | Prospective | 18–42 | Age, ovarian dysfunction | ||
| 9 BRCA2m BC | |||||||||
| BRCAm 1 + 2 | |||||||||
| 60 WT | |||||||||
| Wang ET, 2014 | Cancer-free | S | 89/143 | 62 BRCA1m | Cross-sectional study | 18–45 | Age, BMI, smoke, HC | ||
| 27 BRCA2m | |||||||||
| BRCAm 1 + 2 | |||||||||
| 54 WT | |||||||||
| Phillips KA, 2016 | Cancer-free | S | 319/535 | 216 WT | Prospective | 25–45 | Age, BMI, smoke, HC | ||
| 172 BRCA1m | |||||||||
| 147 BRCA2m | |||||||||
| Giordano S, 2016 | Cancer-free | S | 68/124 | 68 BRCA1m | Retrospective | 18–45 | Age, BMI, HC, smoke, PCOS | ||
| 56 WT | |||||||||
| Johnson L, 2017 | Cancer-free | S | 105/131 | 55 BRCA1 | Prospective | 18–45 | Age, BMI, HC, smoke | ||
| 50 BRCA2 | |||||||||
| 26 WT | |||||||||
| Ben-Aharon I, 2018 | Cancer-free | S | 33/48 | 33 BRCAm 1 + 2 | Prospective | 24–40 | Age | ||
| 15 WT | |||||||||
| Porcu E, 2019 | BC | ART (FP) | 22/46 | 11 BRCA1 BC | Prospective | 18–40 | Age, BMI | ||
| 11 BRCA2 BC | |||||||||
| 24 WT BC | |||||||||
| Gunnala V, 2019 | Cancer- free and BC" | ART (FP) | 49/102 | 38 BRCAm 1 + 2 (BC) | Retrospective | Up to 40 | Age, BMI | ||
| 53 WT (BC) | |||||||||
| BRCAm sub-groups: | |||||||||
| 31 BRCAm 1 (BC + cancer-free) 18 BRCAm 2 (BC + cancer-free) | |||||||||
| Grynberg, 2019 | BC | ART (FP) | 52/329 | 52 BRCAm 1 + 2 | Retrospective | 18–40 | Age, BMI | ||
| 277 WT | |||||||||
| Ponce 2020 | Cancer- free | S | 69/135 | 32 BRCA1 | Retrospective | 18–45 | Age, PCOS, smoke, BMI, HC | ||
| 37 BRCA2 | |||||||||
| 66 WT | |||||||||
BC: breast cancer; S: surveillance; ART: assisted reproductive technology; FP: fertility preservation; WT: wild type; HC: hormonal contraceptive use.
∗tot. = BRCAm + wild type (confirmed by BRCA test).
# The cancer-free BRCAm carriers (n = 19) were not considered for the comparison with the cancer-free group without mutation (cancer-free control group).
(n = 600), since the cancer-free control group was not tested for BRCA and was defined only as low risk.