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E-GEOD-72277 GSE72277 methylation profiling by array Homo sapiens

DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer

·发布 2016年3月1日 ·更新 2016年3月5日

样本数

实验数

芯片平台

实验描述

The Illumina Infinium 450k Human DNA methylation Beadchip was used to obtain DNA methylation profiles across 485,577 CpGs . Samples were restored FFPE DNA extracted from breast tumours in 3 groups; BRCA1 germline mutated tumours (BRCA1), BRCA1 germline wildtype tumours from women from high risk families (BRCAx) and the designated test variant tumours (BRCA1UV). Bisulphite converted DNA was hybridised to the Illumina Infinium 450k Human Methylation Beadchip

芯片平台

A-GEOD-13534

Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482_v.1.1)（60 例）

样本属性

brca1_status

BRCA1, BRCA1UV, BRCAx

disease state

Breast Cancer

er_status 1=postive, 0=negative

0, 1, NA

grade

0, 1, 2, 3, NA

hgvs_nuc

c.1018 del G, c.1036C>T, c.131 G>T, c.1486C>T, c.181 T>G, c.1984_1992del, c.2071 del A, c.2180C>T, c.2681_2682 del AA, c.3256_3257 ins GA, c.3708T>G, c.4039A>G, c.4103C>T, c.4185+9C>T, c.4484+2_4484+3ins8, c.4485-8C>T, c.454C>T, c.4936 del G, c.4955T>A, c.4963T>C, c.4991T>C, c.5194-12G>A, c.5212 G>A, c.5324 T>A, c.5503 C>T, c.5513 T>A, c.551C>T, c.593+16C>G, c.641A>G, c.70_80 del TGTCCCATCTG, NA

hgvs_prot

IVS, NA, p.Ala1368Val, p.Arg1347Gly, p.Arg1835X, p.Arg496Cys, p.Arg691AspfsX10, p.Asn1236Lys, p.Asp214Gly, p.Cys24SerfsX13, p.Cys44Phe, p.Cys61Gly, p.Gly1738Arg, p.H662-R664del, p.Leu1086X, p.Leu152Phe, p.Leu1664Pro, p.Lys894ThrfsX8, p.Met1652Lys, p.Met1775Lys, p.Pro346Ser, p.Pro727Leu, p.Ser1655Pro, p.Ser184Phe, p.Val1646SerfsX12, p.Val1838Glu, p.Val340X

immunoprecipitate

1, 2, 3, 4, 5

organism

Homo sapiens

sample removed after qc

NO, YES

sample type

tumour DNA

sex

female

variant

A1368V, BRCA1 IVS 12+9 C>T, BRCA1 IVS 14+2 ins 8, BRCA1 IVS 14-8 C>T, BRCA1 IVS 19-12 G>A, BRCA1 IVS 9+16C>G, C44F, C61G, D214G, G1738R, H662-R664del, L152F, L1664P, M1652K, M1775K, N1236K, NA, P346S, P727L, R1347G, R496C, S1655P, S184F, STOP 1087, STOP 1657, STOP 1835, STOP 340, STOP 36, STOP 700, STOP 901, V1838E

实验信息

登记号

E-GEOD-72277

GEO 编号

GSE72277

实验类型

methylation profiling by array

物种

Homo sapiens

发布日期

2016年3月1日

更新日期

2016年3月5日

提交者

James M Flanagan、 Kirsty J Flower

外部链接

ArrayExpress 原始页 NCBI GEO：GSE72277

分析服务

DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer

联系地址

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