1
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Genome-wide association study identifies novel breast cancer susceptibility loci.
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Nature
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2007
|
29.23
|
2
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Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality.
|
JAMA
|
2010
|
8.93
|
3
|
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
|
Nat Genet
|
2013
|
8.24
|
4
|
A common coding variant in CASP8 is associated with breast cancer risk.
|
Nat Genet
|
2007
|
7.35
|
5
|
Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.
|
Mol Cell
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2006
|
7.33
|
6
|
Pharmacogenetics of tamoxifen biotransformation is associated with clinical outcomes of efficacy and hot flashes.
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J Clin Oncol
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2005
|
6.90
|
7
|
Subtyping of breast cancer by immunohistochemistry to investigate a relationship between subtype and short and long term survival: a collaborative analysis of data for 10,159 cases from 12 studies.
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PLoS Med
|
2010
|
6.04
|
8
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Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers.
|
Nature
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2008
|
5.98
|
9
|
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
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Am J Hum Genet
|
2007
|
5.17
|
10
|
Breast-cancer risk in families with mutations in PALB2.
|
N Engl J Med
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2014
|
4.97
|
11
|
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.
|
Nat Genet
|
2010
|
4.96
|
12
|
Gene-panel sequencing and the prediction of breast-cancer risk.
|
N Engl J Med
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2015
|
4.77
|
13
|
Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.
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Am J Hum Genet
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2004
|
4.61
|
14
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Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies.
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J Natl Cancer Inst
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2010
|
4.54
|
15
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The impact of cytochrome P450 2D6 metabolism in women receiving adjuvant tamoxifen.
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Breast Cancer Res Treat
|
2006
|
4.35
|
16
|
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.
|
Nat Genet
|
2013
|
4.35
|
17
|
Trends in mastectomy rates at the Mayo Clinic Rochester: effect of surgical year and preoperative magnetic resonance imaging.
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J Clin Oncol
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2009
|
4.13
|
18
|
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
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Nat Genet
|
2013
|
3.81
|
19
|
RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies.
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Am J Hum Genet
|
2007
|
3.63
|
20
|
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.
|
Am J Hum Genet
|
2008
|
3.41
|
21
|
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer.
|
Nat Genet
|
2011
|
3.37
|
22
|
Genome-wide association analysis identifies three new breast cancer susceptibility loci.
|
Nat Genet
|
2012
|
3.20
|
23
|
Molecular basis for estrogen receptor alpha deficiency in BRCA1-linked breast cancer.
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J Natl Cancer Inst
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2007
|
3.11
|
24
|
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.
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J Natl Cancer Inst
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2009
|
2.88
|
25
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Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium.
|
Hum Mol Genet
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2011
|
2.72
|
26
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An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA).
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Breast Cancer Res
|
2007
|
2.46
|
27
|
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.
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Hum Mol Genet
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2012
|
2.45
|
28
|
A two-gene expression ratio of homeobox 13 and interleukin-17B receptor for prediction of recurrence and survival in women receiving adjuvant tamoxifen.
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Clin Cancer Res
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2006
|
2.27
|
29
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Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers.
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Am J Hum Genet
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2013
|
2.24
|
30
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Functional evaluation and cancer risk assessment of BRCA2 unclassified variants.
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Cancer Res
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2005
|
2.16
|
31
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Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.
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Hum Mol Genet
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2009
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2.13
|
32
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The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing.
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Clin Cancer Res
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2011
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2.09
|
33
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Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma.
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Cancer Res
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2009
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2.04
|
34
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Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
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Cancer Epidemiol Biomarkers Prev
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2011
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1.99
|
35
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ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.
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Hum Mutat
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2011
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1.94
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36
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Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer.
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Cancer Res
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2007
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1.92
|
37
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Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.
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Cancer Res
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2010
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1.90
|
38
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A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
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Hum Mutat
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2011
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1.90
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39
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Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.
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Cancer Res
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2007
|
1.89
|
40
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Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.
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PLoS Genet
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2013
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1.88
|
41
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19p13.1 is a triple-negative-specific breast cancer susceptibility locus.
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Cancer Res
|
2012
|
1.81
|
42
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Functional assays for classification of BRCA2 variants of uncertain significance.
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Cancer Res
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2008
|
1.79
|
43
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Common variants in ZNF365 are associated with both mammographic density and breast cancer risk.
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Nat Genet
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2011
|
1.77
|
44
|
Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.
|
PLoS Genet
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2010
|
1.74
|
45
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Prediction and assessment of splicing alterations: implications for clinical testing.
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Hum Mutat
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2008
|
1.73
|
46
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Inactivation of Brca2 promotes Trp53-associated but inhibits KrasG12D-dependent pancreatic cancer development in mice.
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Gastroenterology
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2011
|
1.70
|
47
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Identification and validation of an anthracycline/cyclophosphamide-based chemotherapy response assay in breast cancer.
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J Natl Cancer Inst
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2014
|
1.66
|
48
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Common breast cancer susceptibility loci are associated with triple-negative breast cancer.
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Cancer Res
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2011
|
1.65
|
49
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Altered expression of FANCL confers mitomycin C sensitivity in Calu-6 lung cancer cells.
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Cancer Biol Ther
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2006
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1.62
|
50
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Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
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Breast Cancer Res
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2007
|
1.61
|
51
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Association of ESR1 gene tagging SNPs with breast cancer risk.
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Hum Mol Genet
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2009
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1.58
|
52
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Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.
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J Clin Oncol
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2008
|
1.56
|
53
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Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.
|
PLoS Genet
|
2010
|
1.56
|
54
|
Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors.
|
PLoS Genet
|
2013
|
1.56
|
55
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Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study.
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Breast Cancer Res
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2010
|
1.51
|
56
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Genetic susceptibility to triple-negative breast cancer.
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Cancer Res
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2013
|
1.48
|
57
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A candidate tumor suppressor HtrA1 is downregulated in ovarian cancer.
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Oncogene
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2004
|
1.47
|
58
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Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.
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J Natl Cancer Inst
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2010
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1.41
|
59
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The 17q23 amplicon and breast cancer.
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Breast Cancer Res Treat
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2003
|
1.40
|
60
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Association of genetic variation in genes implicated in the beta-catenin destruction complex with risk of breast cancer.
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Cancer Epidemiol Biomarkers Prev
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2008
|
1.39
|
61
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Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.
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Am J Hum Genet
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2013
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1.39
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62
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Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.
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Breast Cancer Res
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2012
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1.38
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63
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Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31.
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Nat Commun
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2013
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1.36
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64
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Genetic alterations associated with progression from pancreatic intraepithelial neoplasia to invasive pancreatic tumor.
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Gastroenterology
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2013
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1.34
|
65
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A guide for functional analysis of BRCA1 variants of uncertain significance.
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Hum Mutat
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2012
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1.34
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66
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The role of Tbx2 and Tbx3 in mammary development and tumorigenesis.
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J Mammary Gland Biol Neoplasia
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2004
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1.31
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67
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Fanconi anemia complementation group D2 (FANCD2) functions independently of BRCA2- and RAD51-associated homologous recombination in response to DNA damage.
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J Biol Chem
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2005
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1.31
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68
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Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.
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Hum Mutat
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2011
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1.31
|
69
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Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium.
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Cancer Epidemiol Biomarkers Prev
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2009
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1.29
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70
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CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer.
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J Clin Oncol
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2012
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1.29
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71
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Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
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Carcinogenesis
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2013
|
1.28
|
72
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A novel automated mammographic density measure and breast cancer risk.
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J Natl Cancer Inst
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2012
|
1.28
|
73
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11q13 is a susceptibility locus for hormone receptor positive breast cancer.
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Hum Mutat
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2012
|
1.26
|
74
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Strong evidence of a genetic determinant for mammographic density, a major risk factor for breast cancer.
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Cancer Res
|
2007
|
1.26
|
75
|
Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk.
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Cancer Epidemiol Biomarkers Prev
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2012
|
1.26
|
76
|
Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.
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Cancer Discov
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2012
|
1.25
|
77
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A comprehensive examination of CYP19 variation and risk of breast cancer using two haplotype-tagging approaches.
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Breast Cancer Res Treat
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2006
|
1.25
|
78
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Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium.
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Proc Natl Acad Sci U S A
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2002
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1.23
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79
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Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer.
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Cancer Epidemiol Biomarkers Prev
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2011
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1.23
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80
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The role of genetic breast cancer susceptibility variants as prognostic factors.
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Hum Mol Genet
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2012
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1.23
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81
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Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.
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Breast Cancer Res
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2011
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1.22
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82
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A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.
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Cancer Res
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2012
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1.21
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83
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Increased prevalence of the BRCA2 polymorphic stop codon K3326X among individuals with familial pancreatic cancer.
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Oncogene
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2005
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1.18
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84
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On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.
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Eur J Hum Genet
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2010
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1.17
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85
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TBX2 is preferentially amplified in BRCA1- and BRCA2-related breast tumors.
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Cancer Res
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2002
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1.17
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86
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Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival.
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J Natl Cancer Inst
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2010
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1.17
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87
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Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.
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Hum Mol Genet
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2010
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1.15
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88
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A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.
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Cancer Epidemiol Biomarkers Prev
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2011
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1.15
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89
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Functional assays for BRCA1 and BRCA2.
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Int J Biochem Cell Biol
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2006
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1.15
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90
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BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.
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Oncologist
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2013
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1.15
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91
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Assessment of hepatocyte growth factor in ovarian cancer mortality.
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Cancer Epidemiol Biomarkers Prev
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2011
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1.14
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92
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Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC).
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PLoS One
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2012
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1.13
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93
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Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
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Hum Mutat
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2010
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1.13
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94
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BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
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J Med Genet
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2012
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1.13
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95
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Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.
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PLoS Biol
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2011
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1.12
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96
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The influence of mammogram acquisition on the mammographic density and breast cancer association in the Mayo Mammography Health Study cohort.
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Breast Cancer Res
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2012
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1.11
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97
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Automated discovery of drug treatment patterns for endocrine therapy of breast cancer within an electronic medical record.
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J Am Med Inform Assoc
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2011
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1.09
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98
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BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic.
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J Clin Oncol
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2002
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1.06
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99
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Identification of inherited genetic variations influencing prognosis in early-onset breast cancer.
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Cancer Res
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2013
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1.06
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100
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Microcephalin regulates BRCA2 and Rad51-associated DNA double-strand break repair.
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Cancer Res
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2009
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1.06
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101
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Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes.
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Cancer Res
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2011
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1.05
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102
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Genetic variation in the chromosome 17q23 amplicon and breast cancer risk.
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Cancer Epidemiol Biomarkers Prev
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2009
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1.05
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103
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Genetic variation in stromal proteins decorin and lumican with breast cancer: investigations in two case-control studies.
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Breast Cancer Res
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2008
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1.04
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104
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Mammographic breast density and breast cancer: evidence of a shared genetic basis.
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Cancer Res
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2012
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1.03
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105
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Association of genetic variation in mitotic kinases with breast cancer risk.
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Breast Cancer Res Treat
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2009
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1.02
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106
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BRCA2 localization to the midbody by filamin A regulates cep55 signaling and completion of cytokinesis.
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Dev Cell
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2012
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1.02
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107
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Cancer risk assessment at the atomic level.
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Cancer Res
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2006
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1.01
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108
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Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
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Cancer Epidemiol Biomarkers Prev
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2010
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1.01
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109
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A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium.
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Hum Mol Genet
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2013
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1.00
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110
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Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.
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Hum Mutat
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2011
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1.00
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111
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Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.
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Breast Cancer Res
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2014
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0.99
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112
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Racial disparity in breast cancer and functional germ line mutation in galectin-3 (rs4644): a pilot study.
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Cancer Res
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2008
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0.98
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113
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Allele-specific expression in the germline of patients with familial pancreatic cancer: an unbiased approach to cancer gene discovery.
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Cancer Biol Ther
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2007
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0.98
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114
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Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.
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Hum Mutat
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2012
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0.98
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115
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BRCA2 and pancreatic cancer.
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Int J Gastrointest Cancer
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2002
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0.98
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116
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p53 mediates repression of the BRCA2 promoter and down-regulation of BRCA2 mRNA and protein levels in response to DNA damage.
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J Biol Chem
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2003
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0.97
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117
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9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium.
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Cancer Epidemiol Biomarkers Prev
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2012
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0.95
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118
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Plumbagin inhibits tumorigenesis and angiogenesis of ovarian cancer cells in vivo.
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Int J Cancer
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2012
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0.95
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119
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Cytochrome P450 2D6 and homeobox 13/interleukin-17B receptor: combining inherited and tumor gene markers for prediction of tamoxifen resistance.
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Clin Cancer Res
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2008
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0.95
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120
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Rare variants in XRCC2 as breast cancer susceptibility alleles.
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J Med Genet
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2012
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0.94
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121
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No association between a candidate TCF7L2 variant and risk of breast or ovarian cancer.
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BMC Cancer
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2009
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0.93
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122
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Dual recognition of phosphoserine and phosphotyrosine in histone variant H2A.X by DNA damage response protein MCPH1.
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Proc Natl Acad Sci U S A
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2012
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0.93
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123
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Functional assays for analysis of variants of uncertain significance in BRCA2.
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Hum Mutat
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2013
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0.92
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124
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Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls.
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Cancer Epidemiol Biomarkers Prev
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2010
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0.91
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125
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Tex14, a Plk1-regulated protein, is required for kinetochore-microtubule attachment and regulation of the spindle assembly checkpoint.
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Mol Cell
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2012
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0.91
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126
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Mutational analysis of thirty-two double-strand DNA break repair genes in breast and pancreatic cancers.
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Cancer Res
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2008
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0.91
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127
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Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.
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J Clin Oncol
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2012
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0.91
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128
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Evaluation of associations between common variation in mitotic regulatory pathways and risk of overall and high grade breast cancer.
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Breast Cancer Res Treat
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2011
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0.90
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129
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Risk of ovarian cancer and inherited variants in relapse-associated genes.
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PLoS One
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2010
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0.90
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130
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COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration.
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Breast Cancer Res
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2013
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0.90
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131
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BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.
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J Natl Cancer Inst
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2015
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0.90
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132
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No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study.
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Breast Cancer Res Treat
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2008
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0.90
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133
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Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk.
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Hum Genet
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2014
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0.89
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134
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Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.
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Breast Cancer Res
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2014
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0.89
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135
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Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.
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Hum Mol Genet
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2011
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0.89
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136
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A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.
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Cancer Epidemiol Biomarkers Prev
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2012
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0.89
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137
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Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers.
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Breast Cancer Res
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2012
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0.88
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138
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DNA mismatch repair gene MSH6 implicated in determining age at natural menopause.
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Hum Mol Genet
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2013
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0.88
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139
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Poly(ADP-ribose) polymerase-1 down-regulates BRCA2 expression through the BRCA2 promoter.
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J Biol Chem
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2008
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0.88
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140
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Identification of a novel percent mammographic density locus at 12q24.
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Hum Mol Genet
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2012
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0.88
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141
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Utilizing Nottingham Prognostic Index in microarray gene expression profiling of breast carcinomas.
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Mod Pathol
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2004
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0.87
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142
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Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.
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Hum Genet
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2011
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0.87
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143
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Variation at 8q24 and 9p24 and risk of epithelial ovarian cancer.
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Twin Res Hum Genet
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2010
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0.87
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144
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Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer.
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Breast Cancer Res
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2010
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0.87
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145
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Truncating variants in p53AIP1 disrupting DNA damage-induced apoptosis are associated with prostate cancer risk.
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Cancer Res
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2006
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0.86
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146
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ERβ1: characterization, prognosis, and evaluation of treatment strategies in ERα-positive and -negative breast cancer.
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BMC Cancer
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2014
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0.84
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147
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No evidence that GATA3 rs570613 SNP modifies breast cancer risk.
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Breast Cancer Res Treat
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