|
rs80356923
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
A |
0.710 |
CausalMutation
|
CLINVAR |
Here, we report the first case of serous tubal intraepithelial carcinoma identified through a risk-reducing salpingo-oophorectomy in a Japanese woman with hereditary breast and ovarian cancer syndrome and who had a deleterious germline mutation of E1214X in BRCA1, but not a BRCA2 mutation.
|
24719479 |
2014 |
|
rs80356923
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
A |
0.710 |
CausalMutation
|
CLINVAR |
Germline BRCA1 and BRCA2 mutations in ovarian cancer: utility of a histology-based referral strategy.
|
22776961 |
2012 |
|
rs80356923
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
A |
0.710 |
CausalMutation
|
CLINVAR |
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner.
|
19370767 |
2009 |
|
rs80356923
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
A |
0.710 |
CausalMutation
|
CLINVAR |
The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified.
|
17851763 |
2008 |
|
rs80356923
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
A |
0.710 |
CausalMutation
|
CLINVAR |
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
|
16683254 |
2006 |
|
rs80356923
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
A |
0.710 |
CausalMutation
|
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 |
|
rs80356923
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
A |
0.710 |
CausalMutation
|
CLINVAR |
Molecular profiles of BRCA1-mutated and matched sporadic breast tumours: relation with clinico-pathological features.
|
11506493 |
2001 |
|
rs80356923
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
A |
0.710 |
CausalMutation
|
CLINVAR |
Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families.
|
11149425 |
2001 |
|
rs80356923
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
A |
0.710 |
CausalMutation
|
CLINVAR |
A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families.
|
9150151 |
1997 |
|
rs80356923
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
A |
0.710 |
CausalMutation
|
CLINVAR |
Mutations in the BRCA1 gene in Japanese breast cancer patients.
|
8723683 |
1996 |
|
rs80357064
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
|
25186627 |
2015 |
|
rs80357064
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Patterns and functional implications of rare germline variants across 12 cancer types.
|
26689913 |
2015 |
|
rs80357064
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Deleterious BRCA1/2 mutations in an urban population of Black women.
|
26250392 |
2015 |
|
rs80357064
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.
|
24516540 |
2014 |
|
rs80357064
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |
|
rs80357064
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.
|
23161852 |
2013 |
|
rs80357064
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Mechanisms of BRCA1 tumor suppression.
|
22843421 |
2012 |
|
rs80357064
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.
|
22034289 |
2012 |
|
rs80357064
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.
|
20103620 |
2010 |
|
rs80357064
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair.
|
18066063 |
2008 |
|
rs80357064
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.
|
18489799 |
2008 |
|
rs80357064
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization.
|
16140926 |
2005 |
|
rs80357064
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.710 |
CausalMutation
|
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 |
|
rs80357064
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex.
|
12732733 |
2003 |
|
rs80357064
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model.
|
12915465 |
2003 |