|
rs80357635
|
|
Mammary Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
The observation of BRCA2 -26 G/A 5'UTR polymorphism concomitant with the presence of methylation in the promoter region was novel and emerged as a strong candidate for susceptibility to sporadic breast tumors.
|
21092294 |
2010 |
|
rs80357034
|
|
Mammary Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two genetic variants were initially classified as VUSs (c.1155C>T and c.5191C>A). c.1155C>T is not predicted to be deleterious in the prescreening portion of our assessment strategy. c.5191C>A, on the other hand, causes p.T1691K, which is predicted to have high deleterious probability because of significant structural alteration, a high deleterious score in the predictive programs and, clinically, triple negative characteristics in breast tumors.
|
22277901 |
2012 |
|
rs55680408
|
|
Mammary Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
We used large-scale genetic and clinical resources from the ENIGMA, CIMBA and BCAC consortia to assess pathogenicity of c.594-2A > C. The combined odds for causality considering case-control, segregation and breast tumor pathology information was 3.23 × 10<sup>-8</sup> Our data indicate that c.594-2A > C is always in cis with c.641A > G. The spliceogenic effect of c.[594-2A > C;641A > G] was characterized using RNA analysis of human samples and splicing minigenes.
|
27008870 |
2016 |
|
rs41293463
|
|
Mammary Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
This association was much weaker with the same fragment bearing a missense mutation (M1775R) that has been identified in breast tumors.
|
10403822 |
1999 |
|
rs886040109
|
|
Mammary Neoplasms
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs886037790
|
|
Mammary Neoplasms
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.
|
27257965 |
2016 |
|
rs886037789
|
|
Mammary Neoplasms
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.
|
27257965 |
2016 |
|
rs886037788
|
|
Mammary Neoplasms
|
TTCAA |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.
|
27257965 |
2016 |
|
rs886037787
|
|
Mammary Neoplasms
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.
|
27257965 |
2016 |
|
rs886037786
|
|
Mammary Neoplasms
|
TG |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.
|
27257965 |
2016 |
|
rs886037785
|
|
Mammary Neoplasms
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.
|
27257965 |
2016 |
|
rs886037784
|
|
Mammary Neoplasms
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.
|
27257965 |
2016 |
|
rs80358146
|
|
Mammary Neoplasms
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.
|
27257965 |
2016 |
|
rs80358044
|
|
Mammary Neoplasms
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs80357973
|
|
Mammary Neoplasms
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Chromosome damage in G0 X-irradiated lymphocytes from patients with hereditary retinoblastoma.
|
6455195 |
1981 |
|
rs80357973
|
|
Mammary Neoplasms
|
C |
0.700 |
CausalMutation
|
CLINVAR |
One Case of a BRCA1 Germ Line Mutation Ovarian Carcinoma Patient Based on Abnormal Immunohistochemistry Finding.
|
25366075 |
2014 |
|
rs80357973
|
|
Mammary Neoplasms
|
C |
0.700 |
CausalMutation
|
CLINVAR |
[Simple and rapid technic of grouping of streptococci].
|
824983 |
1976 |
|
rs80357973
|
|
Mammary Neoplasms
|
C |
0.700 |
CausalMutation
|
CLINVAR |
AIDS legislation.
|
3175448 |
1988 |
|
rs80357973
|
|
Mammary Neoplasms
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.
|
27257965 |
2016 |
|
rs80357973
|
|
Mammary Neoplasms
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Purification and characterization of a new sodium-transport decarboxylase. Methylmalonyl-CoA decarboxylase from Veillonella alcalescens.
|
6852015 |
1983 |
|
rs80357973
|
|
Mammary Neoplasms
|
C |
0.700 |
CausalMutation
|
CLINVAR |
The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.
|
25863477 |
2015 |
|
rs80357973
|
|
Mammary Neoplasms
|
C |
0.700 |
CausalMutation
|
CLINVAR |
[The measuring for depth of papillary excavation by microcomputer (author's transl)].
|
7257965 |
1980 |
|
rs80357973
|
|
Mammary Neoplasms
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients.
|
15117986 |
2004 |
|
rs80357973
|
|
Mammary Neoplasms
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.
|
22798144 |
2012 |
|
rs80357973
|
|
Mammary Neoplasms
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Diagnosis of vertebral fractures.
|
6848529 |
1983 |