|
rs1450793674
|
|
|
0.700 |
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 |
|
rs1450793674
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
BRCA1 mutations in primary breast and ovarian carcinomas.
|
7939630 |
1994 |
|
rs1450793674
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.
|
14722926 |
2004 |
|
rs1450793674
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.
|
12938098 |
2003 |
|
rs1489545368
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two variants (Thr598Ile and Ile692Thr) were not detected in any of the 659 sporadic breast cancer cases and controls and were assessed for segregation with breast cancer in the families of the probands.
|
17972171 |
2008 |
|
rs1555580883
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs16940
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequency of the polymorphism c.2311T>C was significantly higher in patients of the group BC+Her+Exp than in healthy women, and of the polymorphism 5382insC in BC+Her+Exp compared to all other groups.
|
27644661 |
2016 |
|
rs16941
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A significant increase in the cancer risk associated either with harboring one additional putative high-risk NHEJ genotype or with the joint effect of having reproductive risk factors (reflected by an interval of > or =12 years between menarche and first full-term pregnancy) and a higher number of high-risk genotypes of the NHEJ genes was only seen in women with at least one variant BRCA1 allele (i.e., the Glu/Gly or Gly/Gly forms of BRCA1 Glu(1038)Gly); and (b) a phenotype-based study measuring in vitro and in vivo NHEJ capacity showed that the precise end-joining capacity was different in breast cancer cell lines with different BRCA1 statuses being higher in BRCA1-expressing MCF-7 cells than in HCC1937 cells (defective BRCA1 expression).
|
15256476 |
2004 |
|
rs16942
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Women carrying the rare allele of single nucleotide polymorphism rs16942 on the wild-type copy of BRCA1 were at decreased risk of breast cancer (hazard ratio 0.86, 95% confidence interval 0.77-0.95, P = 0.003).
|
21890493 |
2011 |
|
rs16942
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Polymorphic coding and noncoding variants were transmitted in each family's relatives with a frequency ranging from 42 to 100%, with similar rate for each SNP in mutated and nonmutated families with the only exception of BRCA1 K1183R significantly more frequent in mutated families (P = 0.004); conversely, this SNP and BRCA2 N372H, were more frequently present in breast cancer relatives belonging to families in which pathological BRCA mutations were not present.
|
20352487 |
2011 |
|
rs1799950
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family.
|
11836613 |
2002 |
|
rs1799950
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Conversely, the BRCA1 Q356R and BRCA2 203G>A polymorphisms did not show any significant associations with breast cancer risk.
|
18288416 |
2008 |
|
rs1799950
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our meta-analysis also indicated that rs1799950 could decrease the breast cancer (BC) risk among Caucasian populations in the homozygote and recessive models.
|
29492227 |
2018 |
|
rs1799965
|
|
|
0.010 |
GeneticVariation |
BEFREE |
c.591C>T was detected in B(O)C families (1.5%), breast cancer cases (0.3%), and controls (0.9%). c.591C>T induced BRCA1 exon 9 skipping and modified the relative expression of Delta(9,10), Delta(9,10,11B), Delta11B, and full-length isoforms.
|
19892845 |
2010 |
|
rs1799966
|
|
|
0.020 |
GeneticVariation |
BEFREE |
BRCA1polymorphisms rs799917 and rs1799966 were not significantly associated with BC risk in this meta-analysis.
|
30832521 |
2019 |
|
rs1799966
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population.
|
24933103 |
2014 |
|
rs1799967
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that two polymorphic variants, rs1799967 (BRCA1) and rs4987117 (BRCA2), were strongly associated with the risk of BC.
|
30611917 |
2019 |
|
rs1800709
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Testing of a sample of 413 unrelated individuals to examine the hypothesis that R841W might be a rare polymorphism detected one additional instance in a woman with breast cancer diagnosed at age 77 years, and cancer in one parent.
|
8968716 |
1996 |
|
rs1800744
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family.
|
11836613 |
2002 |
|
rs1800747
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1800751
|
|
|
0.010 |
GeneticVariation |
BEFREE |
From a comparison of the stabilizing residues of the native and mutant proteins, we propose that an nsSNP (rs1800751) could be an important candidate for the breast cancer caused by the BRCA1 gene.
|
17719744 |
2007 |
|
rs183557525
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.Ser36Tyr variant demonstrates abrogated function, and based on epidemiological, genetic, and clinical data we conclude that the p.Ser36Tyr variant is probably associated with a moderate breast cancer risk.
|
24695549 |
2014 |
|
rs190900046
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three novel protein-truncating mutations, c.204T>A, c.225T>G, and c.701C>G, were identified. c.204T>A was found in one out of 22 (4.5 %) early-onset (≤45 years of age) ovarian cancer patients and c.225T>G in one out of 119 (0.8 %) patients from breast cancer only families. c.701C>G was found in a 60-year-old control with no family history of breast/ovarian cancer.
|
24800917 |
2014 |
|
rs201596327
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated and found no significant association between the P210L variant and breast cancer risk in a small case-control study of African-American women.
|
21113654 |
2011 |
|
rs2227945
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|