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| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 672 |
Name | BRCA1 |
Synonymous | BRCAI|BRCC1|BROVCA1|IRIS|PNCA4|PPP1R53|PSCP|RNF53;breast cancer 1, early onset;BRCA1;breast cancer 1, early onset |
Definition | BRCA1/BRCA2-containing complex, subunit 1|RING finger protein 53|breast and ovarian cancer susceptibility protein 1|breast and ovarian cancer sususceptibility protein 1|breast cancer type 1 susceptibility protein|protein phosphatase 1, regulatory subunit |
Position | 17q21 |
Gene Type | protein-coding |
Gene Mutation: | Substitution Insertion & Deletion Other Mutation |
Substitution | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Substitution - coding silent; c.1086G>A; |
y; breast | carcinoma |
Substitution - coding silent; c.1344C>T; 17:38499730-38499730 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Substitution - coding silent; c.2082C>T; |
y; stomach | adenocarcinoma; carcinoma |
Substitution - coding silent; c.4005G>C; |
n; breast | HER-positive_carcinoma; carcinoma |
Indel | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Deletion - Frameshift; c.5440delG; 17:38453213-38453213 |
ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.2169delT; 17:38498905-38498905 |
breast | basal_(triple-negative)_carcinoma; carcinoma |
Deletion - Frameshift; c.3862delG; 17:38497212-38497212 |
breast | ductal_carcinoma; carcinoma |
Deletion - Frameshift; c.2450delG; 17:38498624-38498624 |
ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.2269delG; 17:38498805-38498805 |
ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.5129delG; 17:38469440-38469440 |
y; ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.2438delG; |
y; ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.2269delG; 17:38498805-38498805 |
ovary | endometrioid_carcinoma; carcinoma |
Deletion - Frameshift; c.66_67delAG; 17:38529573-38529574 |
breast | basal_(triple-negative)_carcinoma; carcinoma |
Deletion - Frameshift; c.1557delG; |
y; ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.191_212del22; 17:38511999-38512020 |
breast | ductal_carcinoma; carcinoma |
Deletion - Frameshift; c.3436_3439delTGTT; 17:38497635-38497638 |
ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.3548_3549delAA; 17:38497525-38497526 |
endometrium | carcinoma |
Other Mutation | | Top | |
There is no record for BRCA1 |