rs1060502346
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the requirement of the PALB2-BRCA1 interaction for breast cancer suppression.
|
28319063 |
2017 |
rs1060502347
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs11655505
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study failed to confirm a role of rs11655505 in breast cancer risk.
|
20413709 |
2010 |
rs1216516227
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Initial screening revealed pathogenic variants in known cancer genes, including <i>BARD1</i>:p.Trp91* detected in a cancer-free individual, and <i>MEN1</i>:p.Glu260Lys detected in a BC patient.
|
31681433 |
2019 |
rs12516
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SNP c.*1287C>T (rs12516) of the BRCA1 gene may have potential use as a genetic marker of an increased risk of developing breast cancer and likely represents a non-coding sequence variation in BRCA1 that impacts BRCA1 function and leads to increased early-onset and/or familial breast cancer risk in the Turkish population.
|
25339023 |
2014 |
rs1252889664
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two amino acid substitutions p.S707P and p.F858L, previously reported to be associated with breast cancer, were present in our study in cases and controls, lacking of association with breast cancer.
|
17351744 |
2008 |
rs1296005499
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Along with the G2355C (S761N) missense mutation previously identified in a uterine cancer, we found two other variants in breast cancers, T2006C (C645R) and A2286G (I738V).
|
16061562 |
2005 |
rs1328261486
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Additional studies in other cohorts and other populations are however needed to further evaluate the implication of the Pro377Ser missense variant with regard to breast cancer susceptibility.
|
17943227 |
2007 |
rs1418676444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.Ala126Thr and p.Val169Ala variants have been reported to have no association with risk of breast cancer in a case-control study.
|
22476429 |
2012 |
rs1450793674
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.
|
8776600 |
1996 |
rs1450793674
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the BRCA1 gene in Japanese breast cancer patients.
|
8723683 |
1996 |
rs1450793674
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.
|
12442275 |
2002 |
rs1450793674
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.
|
21473589 |
2011 |
rs1450793674
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.
|
15133502 |
2004 |
rs1450793674
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening.
|
9482581 |
1998 |
rs1450793674
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
|
7545954 |
1994 |
rs1450793674
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Structural consequences of a cancer-causing BRCA1-BRCT missense mutation.
|
12427738 |
2003 |
rs1450793674
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress.
|
11114888 |
2000 |
rs1450793674
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.
|
10323242 |
1999 |
rs1450793674
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.
|
11301010 |
2001 |
rs1450793674
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.
|
7894493 |
1994 |
rs1450793674
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.
|
7894491 |
1994 |
rs1450793674
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene.
|
9760198 |
1998 |
rs1450793674
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
|
28364669 |
2017 |
rs1450793674
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |