rs80356923
|
|
|
0.710 |
GeneticVariation |
BEFREE |
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 |
rs80357064
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here, we report the characterization of the BRCA1 c.190T>C (p.Cys64Arg) mutation, mapped to the RING-finger domain coding region, that we detected in 43 hereditary breast/ovarian cancer (HBOC) families, for the large part originating from the province of Bergamo (Northern Italy).
|
24516540 |
2014 |
rs80357064
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here, we report the characterization of the BRCA1 c.190T>C (p.Cys64Arg) mutation, mapped to the RING-finger domain coding region, that we detected in 43 hereditary breast/ovarian cancer (HBOC) families, for the large part originating from the province of Bergamo (Northern Italy).
|
24516540 |
2014 |
rs80357086
|
|
|
0.710 |
GeneticVariation |
BEFREE |
By using trial registration data from the Japanese hereditary breast and ovarian cancer syndrome (HBOC) consortium, we aimed to explore the clinicopathological characteristics of breast cancer patients with the Japanese founder mutation <i>BRCA1</i> L63X.
|
31143373 |
2019 |
rs80357382
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We demonstrate that disruption of alternative transcript ratios is the mechanism causing hereditary breast/ovarian cancer associated with the BRCA1 R71G mutation.
|
19123044 |
2009 |
rs886039981
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry.
|
24633894 |
2014 |
rs273898674
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry.
|
24633894 |
2014 |
rs397508917
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report the characterization of the BRCA1 c.190T>C (p.Cys64Arg) mutation, mapped to the RING-finger domain coding region, that we detected in 43 hereditary breast/ovarian cancer (HBOC) families, for the large part originating from the province of Bergamo (Northern Italy).
|
24516540 |
2014 |
rs397509039
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This report describes functional analysis of two BRCA1 missense mutations (Asp67Glu and Thr1051Ser) observed in the familial breast/ovarian cancer patients in Thailand.
|
19865540 |
2009 |
rs80357033
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This report describes functional analysis of two BRCA1 missense mutations (Asp67Glu and Thr1051Ser) observed in the familial breast/ovarian cancer patients in Thailand.
|
19865540 |
2009 |
rs886037971
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We demonstrate that disruption of alternative transcript ratios is the mechanism causing hereditary breast/ovarian cancer associated with the BRCA1 R71G mutation.
|
19123044 |
2009 |
rs80356923
|
|
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
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Mutations in the BRCA1 gene in Japanese breast cancer patients.
|
8723683 |
1996 |
rs80356923
|
|
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
|
|
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
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families.
|
11149425 |
2001 |
rs80356923
|
|
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
|
|
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
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Germline BRCA1 and BRCA2 mutations in ovarian cancer: utility of a histology-based referral strategy.
|
22776961 |
2012 |
rs80356923
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Molecular profiles of BRCA1-mutated and matched sporadic breast tumours: relation with clinico-pathological features.
|
11506493 |
2001 |
rs80356923
|
|
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 |
rs80357064
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair.
|
18066063 |
2008 |
rs80357064
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization.
|
16140926 |
2005 |
rs80357064
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.
|
7894491 |
1994 |
rs80357064
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Patterns and functional implications of rare germline variants across 12 cancer types.
|
26689913 |
2015 |