|
rs11871753
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A total of 5 tagging single-nucleotide polymorphisms (rs2299941 of PTEN, rs2735385, rs6999227, rs1805812, and rs1061302 of Nijmegen breakage syndrome 1) were tightly associated with breast cancer risk in sporadic cases, and 5 other tagging single-nucleotide polymorphisms (rs1042522 of TP53, rs2735343 of PTEN, rs7220719, rs16945628, and rs11871753 of BRCA1-interacting protein 1) were tightly associated with breast cancer risk in familial and early-onset cases.
|
30799775 |
2018 |
|
rs16945628
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A total of 5 tagging single-nucleotide polymorphisms (rs2299941 of PTEN, rs2735385, rs6999227, rs1805812, and rs1061302 of Nijmegen breakage syndrome 1) were tightly associated with breast cancer risk in sporadic cases, and 5 other tagging single-nucleotide polymorphisms (rs1042522 of TP53, rs2735343 of PTEN, rs7220719, rs16945628, and rs11871753 of BRCA1-interacting protein 1) were tightly associated with breast cancer risk in familial and early-onset cases.
|
30799775 |
2018 |
|
rs2048718
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results showed a decreased risk of rs2048718 or rs4986764 for cervical cancer rather than breast cancer in the overall population (<i>P</i> < 0.05).
|
29466248 |
2018 |
|
rs7220719
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A total of 5 tagging single-nucleotide polymorphisms (rs2299941 of PTEN, rs2735385, rs6999227, rs1805812, and rs1061302 of Nijmegen breakage syndrome 1) were tightly associated with breast cancer risk in sporadic cases, and 5 other tagging single-nucleotide polymorphisms (rs1042522 of TP53, rs2735343 of PTEN, rs7220719, rs16945628, and rs11871753 of BRCA1-interacting protein 1) were tightly associated with breast cancer risk in familial and early-onset cases.
|
30799775 |
2018 |
|
rs4968451
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNP rs4968451, which maps to intron 4 of the gene that encodes breast cancer susceptibility gene 1-interacting protein 1, was consistently associated with an increased risk of developing meningioma.
|
18270339 |
2008 |
|
rs769797684
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P.
|
16485136 |
2006 |
|
rs4988349
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Of 25 variants identified in BRIP1, in addition to four common silent or missense mutations, we identified Gln540Leu, a non-conservative amino acid change, in a single familial proband with inflammatory breast cancer, but this mutation was not present in her three relatives with breast cancer.
|
12872252 |
2003 |
|
rs4986764
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The results showed a decreased risk of rs2048718 or rs4986764 for cervical cancer rather than breast cancer in the overall population (<i>P</i> < 0.05).
|
29466248 |
2018 |
|
rs4986764
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Accordingly, C47G and G64A polymorphisms were studied in 1,539 cases and 1,183 controls, and 667 and 782, respectively.In the overall analysis, association was lacking between the Pro919Ser polymorphism and breast cancer risk (odds ratio [OR] 0.98-1.02), materially unchanged when confined to subjects of European ancestry (OR 0.96-1.03) or even in the high-powered studies (OR 0.97-1.03).
|
23225146 |
2013 |
|
rs4986764
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We found no effect of the putatively functional BRIP1 variants -64G>A and Pro919Ser on the risk of familial BC.
|
17504528 |
2007 |
|
rs4986764
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Recently, one of the observed common variants, Ser-allele of the Ser919Pro polymorphism, was suggested to associate with an increased breast cancer risk, and was here evaluated in an independent, large series of 888 unselected breast cancer patients and in 736 healthy controls.
|
16430786 |
2006 |
|
rs1292988272
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
|
29922827 |
2018 |
|
rs368796923
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
|
29922827 |
2018 |
|
rs775537066
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
|
29922827 |
2018 |
|
rs368796923
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
|
28152038 |
2017 |
|
rs587780228
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2.
|
28709830 |
2017 |
|
rs587780228
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
rs587780236
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
|
27433846 |
2016 |
|
rs587780236
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
rs587780833
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
rs756853672
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
|
26921362 |
2016 |
|
rs775171520
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.
|
26824983 |
2016 |
|
rs775537066
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
|
26921362 |
2016 |
|
rs786203700
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Inherited Mutations in Women With Ovarian Carcinoma.
|
26720728 |
2016 |
|
rs1057519365
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.
|
25058500 |
2015 |