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Statistics

Key figures

Total amount of samples sequenced ? Total amount of samples sequenced under the project “Study on Hereditary Syndromes in the Russian Federation”3179
Total amount of samples in the database1826
Total number of phenotypes registered17
Total number of pathogenic mutations registered499
Total amount of variants164107

Phenotypes

Breast Cancer786
Ovarian Cancer669
Colorectal Cancer173
Neuroendocrine Cancer90
Prostate Cancer64
Endometrial Cancer53
Pancreas Cancer30
Melanoma20
Сollision Carcinoma11
Thyroid Cancer3

Mutations classification

brca167105250
brca29315184254
tp53413
pten11
atm188226
mlh1221984
msh2132362
msh627151533
epcam844
pms213148
rad51b22
rad51c413
rad51d312
brip13111
palb2181836
chek2131345
stk113111
cdh1321
Summary:40616217135

Most frequent mutations BRCA1/2

Genomic coordinatesTranscriptKnown as Slavs 677 Tatars 544 Bashkirs 29 Chuvashs 31 All 1826
chr17:41209079 T>TGc.5266dupCBRCA1:NM_007294.3p.Q1756fs5382insC 0.04459 0.03336 0.0523 0.0161 0.035128
chr17:41243512 CT>Cc.4035delABRCA1:NM_007294.3p.E1345fs4153delA 0.00375 0.00182 00 0.0161 0.003814
chr17:41258504 A>Cc.181T>GBRCA1:NM_007294.3p.C61G300T>G
Cys61Gly
0.0034 0.00839 00 00 0.00311
chr17:41215382 G>Ac.5161C>TBRCA1:NM_007294.3p.Q1721X 00 0.00556 0.0342 00 0.00259
chr17:41245586 CT>Cc.1961delABRCA1:NM_007294.3p.K654fs2080delA 0.00527 00 00 00 0.00259
chr17:41209095 G>Ac.5251C>TBRCA1:NM_007294.3p.R1751X 0.00527 00 00 00 0.00197
chr17:41226348 C>Tc.4675G>ABRCA1:NM_007294.3p.E1559K 0.0034 0.000921 00 00 0.00197
chr13:32906576 C>CAAc.961_962insAABRCA2:NM_000059.3p.Q321fs 0.000741 0.00465 0.0171 00 0.00166
chr17:41276044 ACT>Ac.68_69delBRCA1:NM_007294.3p.E23fs185delAG 0.0034 00 00 00 0.00145
chr13:32912240 G>GAc.3749dupABRCA2:NM_000059.3p.E1250fs 00 0.00465 00 00 0.00145
chr17:41243843 GTTTAC>Gc.3700_3704delBRCA1:NM_007294.3p.V1234fs3819delGTAAA 0.000741 0.00283 00 00 0.00145
chr13:32950929 G>Ac.8754+1G>ABRCA2:NM_000059.3 0.00152 0.000921 00 0.0161 0.00114
chr17:41223242 G>Cc.4689C>GBRCA1:NM_007294.3p.Y1563X 0.00223 00 00 00 0.000823
chr13:32911388 ACT>Ac.2897_2898delBRCA2:NM_000059.3p.T966fs 00 0.00182 00 00 0.000823
chr13:32954050 G>Ac.9117G>ABRCA2:NM_000059.3p.P3039P 0.000741 0.00182 00 00 0.000823
chr13:32911297 TAAAC>Tc.2806_2809delBRCA2:NM_000059.3p.K936fs 0.00152 00 00 0.0161 0.000823
chr17:41243917 ACT>Ac.3629_3630delBRCA1:NM_007294.3p.E1210fs 00 00 00 00 0.000552
chr17:41234451 G>Ac.4327C>TBRCA1:NM_007294.3p.R1443X 0.00152 00 00 00 0.000552
chr13:32906915 AAAAG>Ac.1301_1304delBRCA2:NM_000059.3p.K434fs 0.00152 00 00 00 0.000552
chr17:41244404 AC>Ac.3143delGBRCA1:NM_007294.3p.G1048fs 0.000741 0.000921 00 00 0.000552
chr17:41215969 C>Tc.5075-1G>ABRCA1:NM_007294.3 0.00152 00 00 00 0.000552
chr13:32921034 G>Ac.7007+1G>ABRCA2:NM_000059.3 00 0.00182 00 00 0.000552
chr17:41243788 TAGAC>Tc.3756_3759delBRCA1:NM_007294.3p.L1252fs3875delGTCT 0.000741 00 00 00 0.000271
chr13:32914437 GT>Gc.5946delTBRCA2:NM_000059.3p.S1982fs6174delT
BRCA2
00 00 00 00 0.000271