|
rs41293459
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We report biallelic BRCA1 mutations c.181T > G (p.Cys61Gly) and c.5096G > A (p.Arg1699Gln) in a woman with breast cancer diagnosed at the age of 30 years.
|
31347298 |
2019 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
BEFREE |
The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; <i>P</i> = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR = 4.29; <i>P</i> = 0.009) variant were associated with moderately increased risks of breast cancer among Europeans, whereas BRCA2 c.7522G>A, p.Gly2508Ser (OR = 2.68; <i>P</i> = 0.004), and c.8187G>T, p.Lys2729Asn (OR = 1.4; <i>P</i> = 0.004) were associated with moderate and low risks of breast cancer among Asians.
|
28283652 |
2017 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
BEFREE |
The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; <i>P</i> = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR = 4.29; <i>P</i> = 0.009) variant were associated with moderately increased risks of breast cancer among Europeans, whereas BRCA2 c.7522G>A, p.Gly2508Ser (OR = 2.68; <i>P</i> = 0.004), and c.8187G>T, p.Lys2729Asn (OR = 1.4; <i>P</i> = 0.004) were associated with moderate and low risks of breast cancer among Asians.
|
28283652 |
2017 |
|
rs41293459
|
|
|
0.730 |
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 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G>A p.Arg1699Gln (R1699Q) families recruited through family cancer clinics, comparing results with 34 families carrying the previously classified pathogenic BRCA1 c.5095C>T p.Arg1699Trp (R1699W) mutation at the same residue, and to 243 breast cancer families with no BRCA1 pathogenic mutation (BRCA-X).
|
22889855 |
2012 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.
|
21473589 |
2011 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.
|
18285836 |
2008 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.
|
14722926 |
2004 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.
|
15133502 |
2004 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.
|
12938098 |
2003 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
Structural consequences of a cancer-causing BRCA1-BRCT missense mutation.
|
12427738 |
2003 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.
|
12442275 |
2002 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.
|
11301010 |
2001 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress.
|
11114888 |
2000 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.
|
10323242 |
1999 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening.
|
9482581 |
1998 |
|
rs41293459
|
|
|
0.730 |
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 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.
|
8776600 |
1996 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
Mutations in the BRCA1 gene in Japanese breast cancer patients.
|
8723683 |
1996 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
|
7545954 |
1994 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
BRCA1 mutations in primary breast and ovarian carcinomas.
|
7939630 |
1994 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.
|
7894491 |
1994 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.
|
7894493 |
1994 |