Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Breast cancer, susceptibility to

OMIM:114480
Mode of inheritance:Multifactorial
Disease classification:Neoplasms


Mutations

Gene SymbolBRCA1
Reference transcriptNM_007294.3
DNA Changec.5309G>T
A.A. Changep.Gly1770Val
Exon/Intronexon 20
Mutation Typesubstitution
ReferenceQuiles F, Teulé À, Martinussen Tandstad N, Feliubadaló L, Tornero E, Del Valle J, Menéndez M, Salinas M, Wethe Rognlien V, Velasco A, Izquierdo A, Capellá G, Brunet J, Lázaro C. Identification of a founder BRCA1 mutation in the Moroccan population.
Clin Genet. 2016 Feb 10. doi: 10.1111/cge.12747. [Epub ahead of print]

Polymorphisms

Gene symbolMTHFR
Reference transcriptNM_005957.4
DNA Changec.665C>T
A.A. Changep.Ala222Val
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs1801133
Cases96 patients with breast cancer
Controls117 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C129 (0.67)179 (0.76)
T63 (0.33)55 (0.24)1.59 (1.04-2.44)0.03
CC39 (41%) 69 (59%)2.2 (1.24-3.86)0.007
CT51 (53%) 41 (35%)
TT6 (6%) 7 (6%)
CommentsThere was a significant association between MTHFR-C677T polymorphism and breast cancer risk.
ReferenceB Diakite, A Tazzite, K Hamzi, H Jouhadi, S NadifiMethylenetetrahydrofolate Reductase C677T polymorphism and breast cancer risk in Moroccan women
Afr Health Sci. 2012 Jun;12(2):204-9.
Gene symbolVEGFA
Reference transcriptNM_001025366.2
DNA Changec.*237C>T (+936C/T)
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs3025039
Cases70
Controls70
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C94%94%
T6%6%
CC87.1%88.6%1
CT12.9%11.4%0.87 (0.32-2.42)0.8
TT0%0%--
ReferenceRahoui J, Sbitti Y, Touil N, Laraqui A, Ibrahimi A, Rhrab B, Al Bouzidi A, Moussaoui Rahali D, Dehayni M, Ichou M, Zaoui F, Mrani S.The single nucleotide polymorphism +936 C/T VEGF is associated with human epidermal growth factor receptor 2 expression in Moroccan breast cancer women.
Med Oncol. 2014 Dec;31(12):336.
Gene symbolTP53
Reference transcriptNM_001126118.1
DNA Changec.-22+10_-21-54ACCTGGAGGGCTGGGG(1_2)
A.A. Change
Exon/Intronintron 3
Variation Typeduplication
Reference SNPrs17878362
Cases105
Controls114
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
A182.9%80.7%1
A217.1%19.3%0.87 (0.53-1.41)0.56
A1/A169.5%68.4%1
A1/A226.7%24.6%1.07 (0.58-1.97)0.83
A2/A23.8%7%0.53 (0.15-1.85)0.32
CommentsA1 allele: one copy of the sequence ACCTGGAGGGCTGGGG. A2 allele: two copies of the sequence ACCTGGAGGGCTGGGG
ReferenceMarouf C, Tazzite A, Diakité B, Jouhadi H, Benider A, Nadifi S.Association of TP53 PIN3 polymorphism with breast cancer in Moroccan population.
Tumour Biol. 2014 Dec;35(12):12403-8.
Gene symbolVEGFA
Reference transcriptNM_001171624.1
DNA Changec.-1154A>G
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs1570360
Cases70
Controls70
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G75%63%
A25%37%
GG60.0%40.0%1
GA30.0%45.7%2.29 (1.10-4.74)0.059
AA10.0%14.3%2.14 (0.73-6.30)
GA+AA40.0%60.0%2.25 (1.14-4.42)2.25
ReferenceRahoui J, Laraqui A, Sbitti Y, Touil N, Ibrahimi A, Ghrab B, Al Bouzidi A, Moussaoui Rahali D, Dehayni M, Ichou M, Zaoui F, Mrani S.Investigating the association of vascular endothelial growth factor polymorphisms with breast cancer: a Moroccan case-control study.
Med Oncol. 2014 Sep;31(9):193.
Gene symbolVEGFA
Reference transcriptNM_001025366.2
DNA Changec.-2055A>C (-2578C/A)
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs699947
Cases70
Controls70
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C66%56%
A34%44%
CC45.7%27.1%1
CA40.0%57.1%2.41 (1.14-5.07)0.063
AA14.3%15.7%1.85 (0.66-5.18)
CA+AA54.3%72.9%2.26 (1.12-4.58)0.022
ReferenceRahoui J, Laraqui A, Sbitti Y, Touil N, Ibrahimi A, Ghrab B, Al Bouzidi A, Moussaoui Rahali D, Dehayni M, Ichou M, Zaoui F, Mrani S.Investigating the association of vascular endothelial growth factor polymorphisms with breast cancer: a Moroccan case-control study.
Med Oncol. 2014 Sep;31(9):193.
Gene symbolVEGFA
Reference transcriptNM_001171623.1
DNA Changec.-634C>G
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs2010963
Cases70
Controls70
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G61%73%
C39%27%
GG37.1%51.4%1
GC47.1%42.9%0.66 (0.32-1.33)0.076
CC15.7%5.7%0.26 (0.08-0.92)
GC+CC62.9%48.6%0.56 (0.28-1.10)0.088
ReferenceRahoui J, Laraqui A, Sbitti Y, Touil N, Ibrahimi A, Ghrab B, Al Bouzidi A, Moussaoui Rahali D, Dehayni M, Ichou M, Zaoui F, Mrani S.Investigating the association of vascular endothelial growth factor polymorphisms with breast cancer: a Moroccan case-control study.
Med Oncol. 2014 Sep;31(9):193.
Gene symbolVEGFA
Reference transcriptNM_001025366.2
DNA Changec.-958C>T (-460T/C)
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs833061
Cases70
Controls70
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
T56%51%
C44%49%
TT38.6%22.9%1
TC35.7%55.7%2.63 (1.19-5.84)0.045
CC25.7%21.4%1.41 (0.56-3.54)
TC+CC61.4%77.1%2.12 (1.01-4.43)0.043
ReferenceRahoui J, Laraqui A, Sbitti Y, Touil N, Ibrahimi A, Ghrab B, Al Bouzidi A, Moussaoui Rahali D, Dehayni M, Ichou M, Zaoui F, Mrani S.Investigating the association of vascular endothelial growth factor polymorphisms with breast cancer: a Moroccan case-control study.
Med Oncol. 2014 Sep;31(9):193.
Gene symbolABCB1
Reference transcriptNM_000927.4
DNA Changec.3435T>C
A.A. Changep.(=)
Exon/Intronexon 27
Variation Typesubstitution
Reference SNPrs1045642
Cases60 breast cancer patients
Controls68 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C80 (66.7%)89 (65.4%)1
T40 (33.3%)47 (34.6%)0.95 (0.56-1.59)0.84
CC30 (50.0%)28 (41.2%)1
CT20 (33.3%)33 (48.5%)0.57 (0.27-1.21)0.14
TT10 (16.7%)7 (10.3%)1.33 (0.44-3.98)0.61
ReferenceTazzite A, Kassogue Y, Diakité B, Jouhadi H, Dehbi H, Benider A, Nadifi S. Association between ABCB1 C3435T polymorphism and breast cancer risk: a Moroccan case-control study and meta-analysis.
BMC Genet. 2016 Sep 1;17(1):126. doi: 10.1186/s12863-016-0434-x.
Gene symbolAPOBEC3B
Reference transcriptNM_001270411.1
DNA Changec.-977C>T
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs8142462
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC181 (80.09%)176 (88.00%)1
CT42 (18.58%)24 (12.00%)1.70 (0.99-2.93)0.0500
TT3 (1.33%)0 (0.00%) 0 (0)0.9839
ReferenceMarouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.
Gene symbolAPOBEC3A
Reference transcriptXM_005261386.1
DNA Changec.-105+1367G>A
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typeothers
Reference SNPrs17370615
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GG111 (49.12%)125 (62.50%)1
GA102 (45.13%)66 (33.00%)1.74 (1.16-2.60)0.0068
AA13 (5.75%)9 (4.50%)1.63 (0.67-3.95)0.2826
ReferenceMarouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.
Gene symbolAPOBEC3B
Reference transcriptNM_001193289.1
DNA Changec.586-9372T>C
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs28401571
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC95 (42.0%)69 (34.50%)1
CT93 (41.15%)80 (40.00%)0.84 (0.55-1.30)0.4412
TT38 (16.81%)51 (25.50%)0.54 (0.32-0.91) 0.0212
ReferenceMarouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.
Gene symbolAPOBEC3B
Reference transcriptNC_000022.10
DNA Changeg.39407399T>C
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs6001376
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
TT82 (36.28%)93 (46.50%)1
TC106 (46.90%)87 (43.50%)1.38 (0.92-2.08)0.1226
CC38 (16.81%)20 (10.00%)2.15 (1.16-4.00)0.0148
ReferenceMarouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.
Gene symbolAPOBEC3B
Reference transcriptNM_001270411.1
DNA Changec.870C>T
A.A. Changep.Tyr315=
Exon/Intronexon 6
Variation Typesubstitution
Reference SNPrs1065184
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC44 (19.47%)49 (24.50%)1
CT128 (56.64%)119 (59.50%)1.20 (0.74-1.93)0.4587
TT54 (23.89%)32 (16.00%)1.88 (1.03-3.42)0.0385
ReferenceMarouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.
Gene symbolATR
Reference transcriptNM_001184.3
DNA Changec.632T>C
A.A. Changep.Met211Thr
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs2227928
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GG78 (34.51%)94(47.00%)1
GA110 (48.67%)87(43.50%)1.52 (1.01-2.30)0.0448
AA38 (16.81%)19(9.50%)2.41 (1.29-4.51)0.0060
ReferenceMarouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.
Gene symbolARID1B
Reference transcriptNM_017519.2
DNA Changec.-840T>C
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs73013281
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC50 (22.12%)63 (31.50%)1
CT126 (55.75%)90 (45.00%)1.76 (1.11-2.79)0.0154
TT50 (22.12%)47 (23.50%)1.34 (0.78-2.31)0.2915
ReferenceMarouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.
Gene symbolMAP3K1
Reference transcriptNM_005921.1
DNA Changec.3190A>C
A.A. Changep.Arg1064=
Exon/Intronexon 14
Variation Typesubstitution
Reference SNPrs832583
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC130 (57.52%)137 (68.50%)1
CA80 (35.40%)58 (29.00%)1.45 (0.96-2.20)0.0770
AA16 (7.08%)5 (2.50%)3.37 (1.20-9.47)0.0210
ReferenceMarouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.
Gene symbolNCOR1
Reference transcriptNM_001190438.1
DNA Changec.109-12374T>C
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs178831
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC102 (45.13%)108 (54.00%)
CT103 (45.58%)82 (41.00%)1.33 (0.89-1.98)0.1589
TT21 (9.29%)10 (5.00%)2.22 (1.00-4.95)0.0500
ReferenceMarouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.
Gene symbolRUNX1
Reference transcriptNM_001754.4
DNA Changec.59-2158T>C
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs8130963
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
AA153 (67.70%)165 (82.50%)1
AG70 (30.97%)33 (16.50%)2.29 (1.43-3.65)0.0005
GG3 (1.33%)2 (1.00%)1.62 (0.27-9.81)0.6010
ReferenceMarouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.
Gene symbolRUNX1
Reference transcriptNC_000021.8
DNA Changeg.36423991C>T
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs17227210
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC53 (23.45%)71 (35.50%)1
CT123 (54.42%)92 (46.00%)1.79 (1.15-2.80)0.0106
TT50 (22.12%)37 (18.50%)1.81 (1.04-3.15)0.0359
ReferenceMarouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.
Gene symbolSMAD4
Reference transcriptNM_005359.5
DNA Changec.*5131A>G
A.A. Change
Exon/Intron3' of the stop codon
Variation Typesubstitution
Reference SNPrs12456284
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
AA145 (64.16%)157 (78.50%)1
AG72 (31.86%)39 (19.50%)2.00 (1.27-3.14)0.0026
GG9 (3.98%)4 (2.00%)2.44 (0.73-8.08)0.1457
ReferenceMarouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.
Gene symbolTBX3
Reference transcriptNM_005996.3
DNA Changec.*739A>G
A.A. Change
Exon/Intron3' of the stop codon
Variation Typesubstitution
Reference SNPrs8853
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC104 (46.02%)127 (63.50%)1
CT106 (46.90%)60 (30.00%)2.16 (1.43-3.25)0.0002
TT16 (7.08%)13 (6.50%)1.50 (0.69-3.27)0.3037
ReferenceMarouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.
Gene symbolTBX3
Reference transcriptNM_005996.3
DNA Changec.*1285A>G
A.A. Change
Exon/Intron3' of the stop codon
Variation Typesubstitution
Reference SNPrs1061651
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
TT118 (52.21)140 (70.00)1
TC97 (42.92) 50 (25.00)2.30 (1.51-3.50)0.0001
CC11 (4.87) 10 (5.00)1.31 (0.54-3.18)0.5579
ReferenceMarouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.
Gene symbolTBX3
Reference transcriptNM_005996.3
DNA Changec.-184C>T
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs2242442
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GG89 (39.38%)106 (53.00%)1
GA104 (46.02%)84 (42.00%)1.47 (0.99-2.21)0.0500
AA33 (14.60%)10 (5.00%)3.93 (1.84-8.42)0.0004
ReferenceMarouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.
Gene symbolTTN
Reference transcriptNM_001256850.1
DNA Changec.73751T>C
A.A. Changep.Ile24584Thr
Exon/Intronexon 276
Variation Typesubstitution
Reference SNPrs12463674
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
AA131 (57.96%)139(69.50%)1
AG85 (37.61%)53(26.50%)1.70 (1.12-2.58)0.0127
GG10 (4.42%)8(4.00%)1.33 (0.51-3.46)0.5641
ReferenceMarouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.
Gene symbolTTN
Reference transcriptNC_000002.11
DNA Changeg.179672711T>C
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs12465459
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC135 (59.73%)150 (75.00%)1
CT84 (37.17%)46 (23.00%)2.03 (1.32-3.11)0.0012
TT7 (3.10%)4 (2.00%)1.94 (0.56-6.79)0.2972
ReferenceMarouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.