rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals.
|
7550349 |
1995 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer.
|
7611277 |
1995 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews.
|
10090881 |
1999 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies.
|
15994883 |
2005 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
BRCA1 185delAG mutant protein, BRAt, up-regulates maspin in ovarian epithelial cells.
|
19906413 |
2010 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
ACT |
0.700 |
CausalMutation
|
CLINVAR |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
|
20104584 |
2010 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.
|
22006311 |
2011 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.
|
22009639 |
2012 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Germline BRCA1 mutations increase prostate cancer risk.
|
22516946 |
2012 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.
|
22535016 |
2012 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
|
22703879 |
2012 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.
|
22763381 |
2013 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier.
|
23086583 |
2013 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations.
|
23633455 |
2013 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions.
|
23658460 |
2013 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts.
|
24737347 |
2014 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Identification of germline genetic mutations in patients with pancreatic cancer.
|
26440929 |
2015 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
ACT |
0.700 |
CausalMutation
|
CLINVAR |
Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2.
|
26543556 |
2015 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients.
|
27553291 |
2016 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.
|
28324225 |
2017 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A case series of three Sri Lankan families with hereditary breast and ovarian cancer syndrome due to pathogenic germline mutations in the BRCA1 gene
|
28390335 |
2017 |
rs80357914
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.
|
28477318 |
2017 |