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Investigation of the relationship of TNFRSF11A gene polymorphisms with breast cancer development and metastasis risk in patients with BRCA1 or BRCA2 pathogenic variants living in the Trakya region of Turkey

K Özdemir
K Özdemir
, 
H Gürkan
H Gürkan
, 
S Demir
S Demir
, 
E Atli
E Atli
, 
Y Özen
Y Özen
, 
A Sezer
A Sezer
, 
N Tunçbilek
N Tunçbilek
 y 
İ Çicin
İ Çicin
   | 23 mar 2021
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Article Category: Original article
Publicado en línea: 23 mar 2021
Páginas: 49 - 58
DOI: https://doi.org/10.2478/bjmg-2020-0016
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© 2020 Özdemir K, Gürkan H, Demir S, Atli E, Özen Y, Sezer A, Tunçbilek N, Çicin İ, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Comparison of genotype frequencies of TNFRSF11A single nucleotide polymorphisms in patient and the control groups.

SNPsAllelePatient Group n (%)Control Group n (%)p Value
rs4941129TT26 (51.0)29 (52.7)0.329
CT23 (45.1)20 (36.4)
CC2 (3.9)6 (10.9)
rs884205CC29 (56.9)35 (63.6)0.104
AC18 (35.3)20 (36.4)
AA4 (7.8)0 (0.0)
rs17069904GG40 (78.4)49 (89.1)0.297
AG10 (19.6)5 (9.1)
AA1 (2.0)1 (1.8)
rs34739845AA40 (78.4)36 (65.5)0.331
AG10 (19.6)17 (30.9)
GG1 (2.0)2 (3.6)
rs9646629GG19 (37.3)26 (47.3)0.546
CG24 (47.1)23 (41.8)
CC8 (15.7)6 (10.9)
rs4485469AA14 (27.5)13 (23.6)0.820
AG22 (43.1)27 (49.1)
GG15 (29.4)15 (23.7)

Comparison of the relationship between estrogen receptor status and TNFRSF11A single nucleotide polymorphisms in the patients groups.

SNPsAllelesPatients With BRCA1 or BRCA2 MutationsPatients Without BRCA1 or BRCA1 2 Mutations
Negative ER n (%)Positive ER n (%)p ValueNegative ER n (%)Positive ER n (%)p Value
rs4941129TT2 (25.0)4 (50.0)3 (50.0)11 (50.0)0.863
CT6 (75.0)3 (37.5)0.1003 (50.0)10 (45.5)
CC0 (0.0)1 (12.5)0 (0.0)1 (4.5)
rs884205CC6 (75.0)4 (50.0)3 (50.0)12 (54.5)0.675
AC2 (25.0)4 (50.0)0.1533 (50.0)8 (36.4)
AA0 (0.0)0 (0.0)0 (0.0)2 (9.1)
rs17069904GG7 (87.5)6 (75.0)5 (83.3)18 (81.8)0.932
AG1 (12.5)2 (25.0)0.5161 (16.7)4 (18.2)
AA0 (0.0)0 (0.0)0 (0.0)0 (0.0)
rs34739845AA7 (87.5)7 (87.5)5 (83.3)17 (77.3)0.860
AG1 (12.5)1 (12.5)0.2671 (16.7)4 (18.2)
GG0 (0.0)0 (0.0)0 (0.0)1 (4.5)
rs9646629GG5 (62.5)2 (25.0)1 (16.7)7 (31.8)0.223
CG3 (37.5)5 (62.5)0.2055 (83.3)10 (45.5)
CC0 (0.0)1 (12.5)0 (0.0)5 (22.7)
rs4485469AA5 (62.5)4 (50.0)0 (0.0)4 (18.2)0.512
AG2 (25.0)2 (25.0)0.4134 (66.7)11 (50.0)
GG1 (12.5)2 (25.0)2 (33.3)7 (31.8)

Comparison of genotype frequencies of TNFRSF11A single nucleotide polymorphisms between patient groups with and without BRCA1 or BRCA2 mutations.

SNPsAllelePatients With Mutations n (%)Patients Without Mutations n (%)p Value
rs4485459AA10 (43.5)4 (14.3)0.059
AG7 (30.4)15 (53.6)
GG6 (26.1)9 (32.1)
rs9646629GG11 (47.8)8 (28.6)0.367
CG9 (39.1)15 (53.6)
CC3 (13.0)5 (17.9)
rs34739845AA18 (78.3)22 (78.6)0.632
AG5 (21.7)5 (17.9)
GG0 (0.0)1 (3.6)
rs17069904GG17 (73.9)23 (82.1)0.491
AG5 (21.7)5 (17.9)
AA1 (4.3)0 (0.0)
rs884205CC14 (60.9)15 (53.6)0.804
AC7 (30.4)11 (39.3)
AA2 (8.7)2 (7.1)
rs4941129TT12 (52.2)14 (50.0)0.973
CT10 (43.5)13 (46.4)
CC1 (4.3)1 (3.6)

Comparison of the relationship between the TNFRSF11A single nucleotide polymorphisms and metastasis status in the patient group with and without BRCA1 or BRCA2 mutations.

SNPsAllelePatients With Neg. Metastasis n (%)Patients With Pos. Metastasis n (%)p Value
rs4941129TT9 (52.9)12 (42.9)0.463
CT7 (41.2)15 (53.6)
CC1 (5.9)1 (3.6)
rs884205CC7 (41.2)19 (67.9)0.352
AC9 (52.9)7 (25.0)
AA1 (5.9)2 (7.1)
rs17069904GG13 (76.5)23 (82.1)0.718
AG4 (23.5)4 (14.3)
AA0 (0.0)1 (3.6)
rs34739845AA12 (70.6)24 (85.7)0.471
AG4 (23.5)4 (14.3)
GG1 (5.9)0 (0.0)
rs9646629GG3 (17.6)13 (46.4)0.348
CG11 (64.7)11 (39.3)
CC3 (17.6)4 (14.3)
rs4485469AA4 (23.5)10 (35.7)0.365
AG9 (52.9)10 (35.7)
GG4 (23.5)8 (28.6)

Comparison of the relationship between progesterone receptor status and TNFRSF11A single nucleotide polymorphisms in the patient groups.

SNPsAllelesPatients With BRCA1 or BRCA2 MutationsPatients Without BRCA1 or BRCA2 Mutations
Negative PR n (%)PR Positive n (%)p ValueNegative PR n (%)PR Positive n (%)p Value
rs4941129TT4 (36.4)2 (40.0)3 (37.5)11 (55.0)0.503
CT7 (63.6)2 (40.0)0.0855 (62.5)8 (40.0)
CC0 (0.0)1 (20.0)0 (0.0)1 (5.0)
rs884205CC7 (63.6)3 (60.0)4 (50.0)11 (55.0)0.562
AC4 (36.4)2 (40.0)0.2424 (50.0)7 (35.0)
AA0 (0.0)0 (0.0)0 (0.0)2 (10.0)
rs17069904GG10 (90.9)3 (60.0)5 (62.5)18 (90.0)0.086
AG1 (9.1)2 (40.0)0.3043 (37.5)2 (10.0)
AA0 (0.0)0 (0.0)0 (0.0)0 (0.0)
rs34739845AA10 (90.9)4 (80.0)6 (75.0)16 (80.0)0.691
AG1 (9.1)1 (20.0)0.2372 (25.0)3 (15.0)
GG0 (0.0)0 (0.0)0 (0.0)1 (5.0)
rs9646629GG6 (54.5)1 (20.0)3 (37.5)5 (25.0)0.290
CG5 (45.5)3 (60.0)0.2205 (62.5)10 (50.0)
CC0 (0.0)1 (20.0)0 (0.0)5 (25.0)
rs4485469AA6 (54.5)3 (60.0)0 (0.0)4 (20.0)0.069
AG2 (18.2)2 (40.0)0.2767 (87.5)8 (40.0)
GG3 (27.3)0 (0.0)1 (12.5)8 (40.0)

The demographic data of the patients (with and without BRCA1 or BRCA2 mutations) and the control group.

ParametersnMean±SDMinimumMaximum
Patient group with BRCA1 or BRCA2 mutations2345.13±13.7324.0076.00
Patient group without BRCA1 or BRCA2 mutations2844.54±8.2833.0062.00
Patient group with and without BRCA1 or BRCA2 mutations5144.80±10.9724.0076.00
Control group5544.00±8.1141.0072.00

Comparison of the relationship between metastasis status and TNFRSF11A single nucleotide polymorphisms in the patient groups.

SNPsAllelesPatients With BRCA1 or BRCA2 MutationsPatients Without BRCA1 or BRCA2 Mutations
Negative Metastasis n (%)Positive Metastasis n (%)p ValueNegative Metastasis n (%)Positive Metastasis n (%)p Value
rs4941129TT3 (50.0)4 (36.4)6 (54.5)8 (47.1)0.696
CT2 (33.3)7 (63.6)0.1565 (45.5)8 (47.1)
CC1 (16.7)0 (0.0)0 (0.0)1 (5.9)
rs884205CC3 (50.0)8 (72.7)4 (36.4)11 (64.7)0.338
AC3 (50.0)2 (18.2)0.5986 (54.5)5 (29.4)
AA0 (0.0)1 (9.1)1 (9.1)1 (5.9)
rs17069904GG4 (66.7)9 (81.8)9 (81.8)14 (82.4)0.971
AG2 (33.3)1 (9.1)0.5882 (18.2)3 (17.6)
AA0 (0.0)1 (9.1)0 (0.0)0 (0.0)
rs34739845AA5 (83.3)9 (81.8)7 (63.6)15 (88.2)0.228
AG1 (16.7)2 (18.2)0.7243 (27.3)2 (11.8)
GG0 (0.0)0 (0.0)1 (9.1)0 (0.0)
rs9646629GG2 (33.3)6 (54.5)1 (9.1)7 (41.2)0.161
CG4 (66.7)3 (27.3)0.5507 (63.6)8 (47.1)
CC0 (0.0)2 (18.2)3 (27.3)2 (11.8)
rs4485469AA4 (66.7)6 (54.5)0 (0.0)4 (23.5)0.138
AG1 (16.7)3 (27.3)0.1588 (72.7)7 (41.2)
GG1 (16.7)2 (18.2)3 (27.3)6 (35.3)

Comparison of the relationship between CerbB2 receptor status and TNFRSF11A single nucleotide polymorphisms in the patient groups.

SNPsAllelesPatients With BRCA1 or BRCA2 MutationsPatients Without BRCA1 or BRCA2 Mutations
Neg. CerB2 Receptor n (%)Pos. CerB2 Receptor n (%)p ValueNeg. CerB2 Receptor n (%)Pos. CerB2 Receptor n (%)p Value
rs4941129TT4 (50.0)2 (28.6)7 (43.8)7 (58.3)0.564
CT3 (37.5)5 (71.4)0.2508 (50.0)5 (41.7)
CC1 (12.5)0 (0.0)1 (6.3)0 (0.0)
rs884205CC4 (50.0)5 (71.4)8 (50.0)7 (58.3)0.852
AC4 (50.0)2 (28.6)0.2077 (43.8)4 (33.3)
AA0 (0.0)0 (0.0)1 (6.3)1 (8.3)
rs17069904GG6 (75.0)6 (85.7)14 (87.5)9 (75.0)0.393
AG2 (25.0)1 (14.3)0.6612 (12.5)3 (25.0)
AA0 (0.0)0 (0.0)0 (0.0)0 (0.0)
rs34739845AA7 (87.5)6 (85.7)12 (75.0)10 (83.3)0.292
AG1 (12.5)1 (14.3)0.4074 (25.0)1 (8.3)
GG0 (0.0)0 (0.0)0 (0.0)1 (8.3)
rs9646629GG3 (37.5)3 (42.9)4 (25.0)4 (33.3)0.890
CG5 (62.5)3 (42.9)0.2789 (56.3)6 (50.0)
CC0 (0.0)1 (14.3)3 (18.8)2 (16.7)
rs4485469AA4 (50.0)4 (57.1)2 (12.5)2 (16.7)0.540
AG1 (12.5)3 (42.9)0.29110 (62.5)5 (41.7)
GG3 (37.5)0 (0.0)4 (25.0)5 (41.7)
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