|
rs748876625
|
|
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
|
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
UNIPROT |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |
|
rs748876625
|
|
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
|
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.
|
21473589 |
2011 |
|
rs748876625
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Structural consequences of a cancer-causing BRCA1-BRCT missense mutation.
|
12427738 |
2003 |
|
rs748876625
|
|
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
|
|
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
|
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress.
|
11114888 |
2000 |
|
rs748876625
|
|
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
|
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening.
|
9482581 |
1998 |
|
rs748876625
|
|
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
|
|
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
|
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Mutations in the BRCA1 gene in Japanese breast cancer patients.
|
8723683 |
1996 |
|
rs748876625
|
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
UNIPROT |
BRCA1 mutations in primary breast and ovarian carcinomas.
|
7939630 |
1994 |
|
rs748876625
|
|
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
|
|
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
|
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
UNIPROT |
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
|
7545954 |
1994 |
|
rs748876625
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|