rs80358721
|
|
Malignant neoplasm of ovary
|
|
0.010 |
GeneticVariation
|
BEFREE |
Three ovarian cancer cell lines (PEO1, PEO4, and PEO6) were derived from a BRCA2 mutation [5193C>G (Y1655X)] carrier with ovarian carcinoma with acquired cisplatin resistance and a secondary BRCA2 mutation [5193C>T (Y1655Y)] that canceled the inherited mutation.
|
19654294 |
2009 |
rs80358721
|
|
Carcinoma, Ovarian Epithelial
|
|
0.010 |
GeneticVariation
|
BEFREE |
Three ovarian cancer cell lines (PEO1, PEO4, and PEO6) were derived from a BRCA2 mutation [5193C>G (Y1655X)] carrier with ovarian carcinoma with acquired cisplatin resistance and a secondary BRCA2 mutation [5193C>T (Y1655Y)] that canceled the inherited mutation.
|
19654294 |
2009 |
rs80358721
|
|
Ovarian Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Three ovarian cancer cell lines (PEO1, PEO4, and PEO6) were derived from a BRCA2 mutation [5193C>G (Y1655X)] carrier with ovarian carcinoma with acquired cisplatin resistance and a secondary BRCA2 mutation [5193C>T (Y1655Y)] that canceled the inherited mutation.
|
19654294 |
2009 |
rs80358721
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma.
|
19654294 |
2009 |
rs80358721
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).
|
22762150 |
2012 |
rs80358721
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
A |
0.700 |
CausalMutation
|
CLINVAR |
EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.
|
21120943 |
2011 |
rs80358721
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer.
|
23569316 |
2013 |
rs80358721
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Implementation and utilization of the molecular tumor board to guide precision medicine.
|
28915716 |
2017 |
rs80358721
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer.
|
17688236 |
2007 |
rs80358721
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.
|
24728189 |
2014 |
rs80358721
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
rs80358721
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs80358721
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Earlier age of onset of BRCA mutation-related cancers in subsequent generations.
|
21913181 |
2012 |
rs80358721
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.
|
27376475 |
2016 |
rs80358721
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning.
|
20167696 |
2010 |
rs80358721
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.
|
21120943 |
2011 |
rs80358721
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.
|
24728189 |
2014 |
rs80358721
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer.
|
23569316 |
2013 |
rs80358721
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs80358721
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
BRCA1/2 mutation analysis in 41 ovarian cell lines reveals only one functionally deleterious BRCA1 mutation.
|
23415752 |
2013 |
rs80358721
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.
|
22006311 |
2011 |
rs80358721
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.
|
29371908 |
2018 |
rs80358721
|
|
Malignant neoplasm of breast
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs80358721
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.
|
25136594 |
2014 |
rs80358721
|
|
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|