|
Malignant neoplasm of breast
|
|
0.710 |
GeneticVariation
|
BEFREE |
To shed more light in the molecular events triggered by missense mutations affecting breast cancer susceptibility genes, we have analyzed the whole cell proteome of stably transfected HeLa cell lines bearing three distinct single aminoacid changes in the BRCA1 protein (Ser1841Asn, Met1775Arg and Trp1837Arg) by means of liquid chromatography coupled to tandem-mass spectrometry.
|
17005433 |
2007 |
|
Malignant neoplasm of breast
|
|
0.710 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
To shed more light in the molecular events triggered by missense mutations affecting breast cancer susceptibility genes, we have analyzed the whole cell proteome of stably transfected HeLa cell lines bearing three distinct single aminoacid changes in the BRCA1 protein (Ser1841Asn, Met1775Arg and Trp1837Arg) by means of liquid chromatography coupled to tandem-mass spectrometry.
|
17005433 |
2007 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1.
|
15133503 |
2004 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.
|
15172985 |
2004 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.
|
15172985 |
2004 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Specific changes in the proteomic pattern produced by the BRCA1-Ser1841Asn missense mutation.
|
17005433 |
2007 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Functional impact of missense variants in BRCA1 predicted by supervised learning.
|
17305420 |
2007 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1.
|
15133503 |
2004 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.
|
20516115 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations.
|
14534301 |
2003 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Toward classification of BRCA1 missense variants using a biophysical approach.
|
20378548 |
2010 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations.
|
14534301 |
2003 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain.
|
16528612 |
2006 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain.
|
16528612 |
2006 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes.
|
27822389 |
2016 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.
|
15235020 |
2004 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.
|
16267036 |
2005 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Toward classification of BRCA1 missense variants using a biophysical approach.
|
20378548 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.
|
20516115 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Functional impact of missense variants in BRCA1 predicted by supervised learning.
|
17305420 |
2007 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Targeting the DNA double strand breaks repair for cancer therapy.
|
20423312 |
2010 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.
|
15133502 |
2004 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.
|
15235020 |
2004 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin.
|
22855649 |
2012 |