rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
28364669
2017
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
23867111
2013
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
BEFREE
The 5382insC mutation was found in 20 of 7920 (0.25%) population DNA samples and in 14 of 570 (2.46%) breast cancer samples; the T300G mutation was detected in 4 population samples (0.05%) and in 2 breast cancer samples (0.35%); the 185delAG or 4153delA mutations were not identified in any of the 7920 samples and were detected in 1 (0.18%) breast cancer case each.
23375855
2013
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.
21473589
2011
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
BEFREE
Comparing these data with the population frequency, we calculated the relative risk of breast cancer for 5382insC mutation at OR = 17 and for 300T >G mutation at OR = 26.
21503673
2011
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.
18285836
2008
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
BEFREE
Screening for three mutations (5382insC, 4154delA and 300T>G ) was carried out in 55 breast cancer and 66 ovarian cancer patients, and for two mutations, 5382insC and 4154delA, in 376 unselected patients with any cancer (including 51 breast cancer and 29 ovarian cancers) and 215 women with any gynaecological tumour.
15951956
2005
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.
15133502
2004
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.
14722926
2004
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
BEFREE
We found that an exogenous BRCA1 gene strongly inhibited telomerase enzymatic activity in human prostate and breast cancer cell lines and caused telomere shortening in cell lines expressing wild-type BRCA1 (wtBRCA1) but not a tumor-associated mutant BRCA1 (T300G ). wtBRCA1 inhibited the expression of the catalytic subunit (telomerase reverse transcriptase [TERT]) but had no effect on the expression of a subset of other components of the telomerase holoenzyme or on the expression of c-Myc, a transcriptional activator of TERT.
14612409
2003
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.
12938098
2003
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
Structural consequences of a cancer-causing BRCA1-BRCT missense mutation.
12427738
2003
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.
12442275
2002
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.
11301010
2001
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress.
11114888
2000
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.
10323242
1999
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening.
9482581
1998
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene.
9760198
1998
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.
8776600
1996
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
Mutations in the BRCA1 gene in Japanese breast cancer patients.
8723683
1996
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
BRCA1 mutations in primary breast and ovarian carcinomas.
7939630
1994
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.
7894493
1994
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.
7894491
1994
rs748876625
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Malignant neoplasm of breast
0.740
GeneticVariation
UNIPROT
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
7545954
1994