Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We identified the BRCA1/2 genetic mutation test results of 1223 breast cancer patients and 174 patients with ovarian cancer.
|
28364669 |
2017 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in BRCA1 and BRCA2 account for the majority of hereditary breast and ovarian cancers, and therefore sequence analysis of both genes is routinely conducted in patients with early-onset breast cancer.
|
23867111 |
2013 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Approximately 120 distinct missense variants have been identified in the BRCA1 BRCT through breast cancer screening, and several of these have been linked to an increased cancer risk.
|
21473589 |
2011 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
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 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.
|
14722926 |
2004 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.
|
15133502 |
2004 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Structural consequences of a cancer-causing BRCA1-BRCT missense mutation.
|
12427738 |
2003 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.
|
12938098 |
2003 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
One BRCA1 and one BRCA2 truncating mutation each was identified in the group of 32 (6%) early-onset breast cancer patients (< or =35 years).
|
12442275 |
2002 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.
|
11301010 |
2001 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The BRCA1 gene encodes a tumor suppressor that is mutated in 50% of familial breast cancers.
|
11114888 |
2000 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.
|
10323242 |
1999 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Eighteen mutations in BRCA1 were detected in 11/28 breast/ovarian cancer families and 7/33 breast cancer families and none in the families with only two cases.
|
9760198 |
1998 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening.
|
9482581 |
1998 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Our results, indicating that missense mutations of BRCA1 and BRCA2 tend to predominate over frameshifts or nonsense mutations in Japanese breast cancer families, will contribute significantly to an understanding of mammary tumorigenesis in Japan, and will be of vital importance for future genetic testing.
|
9609997 |
1998 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.
|
8554067 |
1996 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.
|
8776600 |
1996 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Using single-strand conformation polymorphism (SSCP) analysis, we examined primary breast cancers for mutations in coding exons of BRCA1 in a panel of 103 patients, of whom all either represented early-onset cases (< 35 of age), were members of multiply-affected families, and/or had developed bilateral breast cancers.
|
8723683 |
1996 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We provide genetic evidence supporting the identity of the candidate gene for BRCA1 through the characterization of germline mutations in 63 breast cancer patients and 10 ovarian cancer patients in ten families with cancer linked to chromosome 17q21.
|
7894493 |
1994 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.
|
7894491 |
1994 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of BRCA1 should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology.
|
7545954 |
1994 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Loss of heterozygosity data from familial tumors suggest that BRCA1, a gene that confers susceptibility to ovarian and early-onset breast cancer, encodes a tumor suppressor.
|
7939630 |
1994 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We identified the BRCA1/2 genetic mutation test results of 1223 breast cancer patients and 174 patients with ovarian cancer.
|
28364669 |
2017 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Four additional missense variants (one in BRCA1 and three in BRCA2) with a possible association with an increased risk ovarian cancer were revealed, resulting in a total frequency of BRCA gene alterations of 17/161 (11%).
|
14746861 |
2004 |
Malignant neoplasm of ovary
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
One hundred and seven ovarian cancer cases were analyzed for BRCA1 alterations using the RNase mismatch cleavage assay followed by direct sequencing.
|
10196379 |
1999 |