Table 2 The key characteristics of included studies of BCRA mutations and uterine cancer
From: BRCA 1/2 mutations and risk of uterine cancer: a systematic review and meta-analysis
Author [ref] | Year | country | Study design | Follow up duration | Participants | Age | mutations | Coincidence of uterine cancer & mutation (relative frequency) | |
|---|---|---|---|---|---|---|---|---|---|
BRCA1 | BRCA2 | ||||||||
Beiner (29) | 2007 | Canada | cohort | 3.3 years | 857 women carry a BRCA1 or BRCA2 mutation | 45–70 (54.4) | six women were diagnosed with endometrial cancer | 4/857 | 2/857 |
Bruchim (28) | 2010 | Israel | cohort | 76 months | 31 Jewish patients with USC | 56–79 (66) | • 4 were BRCA2 (6174delT) carriers • 2 each carried the BRCA1 mutations (185delAG and 5382insC) | 2/31 | 4/31 |
Burkett (26) | 2019 | United States | cohort | NR | 109 patients (62% were endometrioid) | (47.5) | 12.8% were sBRCA+ | ||
Frey (21) | 2017 | United States | cohort | NR | Four hundred and fifty-four patients/ (96%) of tested patients were female / (26, 6%) reported a personal history of uterine cancer/ | 25–91 (52) | Among the 138 Ashkenazi Jewish patients Only two of the 20 mutations were in BRCA1/2 (10%) | ||
Frimer (18) | 2016 | United States | cohort | NR | 7 consecutive patients with paired tumor and non-tumor USC samples in our institutional tumor repository | 65–85 (75) | There were no BRCA1 or BRCA2 mutations reported | 17/49 | 13/49 |
Hecht (19) | 2014 | United States | Cross-sectional | - | 27 cases (All women diagnosed between 2007 and 2012 with USC in a hysterectomy specimen were included) | 48–92 | • Only for 5 patients the BRCA1 status was known. • Loss of BRCA1 expression: 4 (14.8%) 23 women (85%) had no personal history of breast cancer and one of them showed loss of BRCA1 | 2/3 | 0/3 |
Johnatty (24) | 2021 | Australia | cohort | NR | EC patients (n = 5292)/ 3623 patients were tested for BRCA1/2 variations | 17–88 | • Isolated EC (N = 1619 N Variant BRCA1: 12 (0.7) N Variant BRCA2: 12 (0.7) • EC & FH EC (N = 507) N Variant BRCA1: 2 (0.4) N Variant BRCA2: 3 (0.6) • EC & concur/subseq BC (N = 686) N Variant BRCA1: 8 (1.2) N Variant BRCA2: 15 (2.2) • EC & concur/subseq BC & FH EC (N = 163) N Variant BRCA1: 2 (1.2) N Variant BRCA2: 1 (0.6) • EC & prior BC (N = 548) N Variant BRCA1: 11 (2.0) N Variant BRCA2: 11 (2.0) • EC & prior BC & FH EC (N = 100) N Variant BRCA1: 5 (5.0) N Variant BRCA2: 2 (2.0) | 40/5292 | 44/5292 |
Jonge (30) | 2021 | Netherlands | cohort | ended at the date of EC diagnosis | 5980 BRCA1/2 (3788 BRCA1, 2151 gBRCA2, 41 both BRCA1/BRCA2) and 8451 non-BRCA1/2 mutation carriers | • EC (58 = 20.53%) BRCA1/2 (BRCA1: 44(12.53%) / BRCA2: 14(8.23%)) and 33 non-BRCA1/2 mutation carriers • Endometrioid (35 = 16.85%) BRCA1: 27(10.27%) BRCA2: 8(6.77%) • Serous-like (19 = 1.95%) BRCA1:15(1.19%) BRCA2: 4(0.78%) | 44/5980 | 14/5980 | |
Kadan (20) | 2018 | Israel | cohort | 14 years | 64 patients (14 BRCA mutation carriers and 50 noncarriers) | 47–79 | • BRCA1 mutation (185delAG or 5382insC): 9 BRCA2 mutation (6174delT); 5 | ||
Kitson (23) | 2020 | UK | cohort | NR | 2609 women (1350 BRCA1 and 1259 BRCA2) | 14 cases of endometrial cancer in women (1350 BRCA1 and 1259 BRCA2) mutation carriers | |||
Lee (22) | 2017 | Australia | cohort | 9.0 years | 828 mutation carriers) BRCA1 mutation: 438 BRCA2 mutation; 390) | 34–52 (43) | • 5 incident cases of UC BRCA1: 3 BRCA2: 2 | 3/828 | 2/828 |
Biron-Shental (27) | 2006 | Israel | cohort | NR | 22 Jewish patients with USPC | 56–79 (71.8) | six BRCA1e2 germline mutation carriers (27%) as follows: three with BRCA2-6174delT, two with BRCA1- 185delAG, and one with BRCA1-5382insC mutation. T | 3/22 | 3/22 |
Sun (25) | 2016 | United States | Cross-sectional | 5.2 years | Fresh endometrial tissue was obtained from 97 cases (type I EC: 49/ endometrial atypical hyperplasia: 20) | • | • Atypical endometrial hyperplasia group: 3/20 (15.00%) BRCA1 • EC group: Endometrioid adenocarcinoma: 9/45 (20.93%) Non-endometrioid adenocarcinoma: 1/4 (33.33%) | 18/49 | 0/49 |
Barak (1) | 2010 | Israel | Cohort | - | 289 Jewish women with EC/ 251/289 patients (86.8%) had type I carcinoma with 245 (84.7%)—endometrioid-type/ | 27–89 | • BRCA1*185delAG (n = 4) BRCA2*6174delT (n = 1) mutations none of 34 women with type II EC carried any BRCA1/BRCA2 mutations | 4/289 | 1/289 |
Shu (5) | 2016 | United States | Cohort | 5.2 years | 1083 mutation carriers (BRCA1:727 and BRCA2: 453) | 40.2–59.5 (45.6) | uterine cancer cases: 8 | 4/1083 | 1/1083 |
Segev (15) | 2013 | Canada | Cohort | 5.7 years | 4456 mutation carriers (BRCA1:3536 and BRCA2: 920) | uterine cancer cases: 17 | 13/4456 | 4/4456 | |
Reitsma, Welmoed (9) | 2013 | Netherlands | Cohort | 6 years | 315 mutation carriers (BRCA1:201 and BRCA2: 144) | 32–78 (50) | uterine cancer cases: 2 | ||
Thompson, Deborah (10) | 2002 | UK | Cohort | NR | 2245 mutation carriers (BRCA1:2245 and BRCA2: 0) | uterine cancer cases: 11 | |||
Levine (31) | 2001 | Israel | Cohort | 12 years | 99 consecutive Ashkenazi Jewish patients with endometrial carcinoma | three BRCA founder mutations (185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 | |||
Long (32) | 2019 | US | Cohort | NR | 1170 patients | • BRCA1: EC type 1: 1/849 (0.12%) EC type 2: 3/321 (0.93%) USC: 1/135 (0.74%) • BRCA2: EC type 1: 3/849 (0.35%) EC type 2: 0/321 (0%) USC: 0/135 (0%) | 5/1170 | 3/1170 | |
Laitman (7) | 2019 | Israel | Cohort | 32,774 women-years of follow up | 2627 eligible mutation carriers (1463 BRCA1, 1154 BRCA2 mutation carriers, 10 double mutation carriers) | 45–77 | uterine cancer cases: 14 | ||
Lavie (33) | 2000 | US | Cohort | - | 12 women with uterine serous papillary carcinoma | 56–77 | one 185delAG mutation and one 5382insC mutation. | ||
Saule (8) | 2018 | France | Cohort | 4.8 years | 369 BRCA 1 or 2 mutation carriers who underwent RRSO | • Endometrial carcinoma: 2 Serous endometrial carcinoma: 2 | 2/369 | 0/369 | |