about
Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot"Genome-wide association study identifies novel breast cancer susceptibility lociCommon breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriersThe androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriersNo evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancerThe intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in AustraliaCYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study.Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer.Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphismsGenome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer riskUse of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriersCandidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer riskGenome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer TypesGenetic variants in ER cofactor genes and endometrial cancer riskPALB2, CHEK2 and ATM rare variants and cancer risk: data from COGSComparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testingGenome-wide association study of endometrial cancer in E2C2The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endometrial cancer risk in non-Hispanic white womenThe Y Alu polymorphism in southern African populations and its relationship to other Y-specific polymorphismsIdentification of seven new prostate cancer susceptibility loci through a genome-wide association studySeven prostate cancer susceptibility loci identified by a multi-stage genome-wide association studyGenome-wide association study identifies a common variant associated with risk of endometrial cancer.Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing.Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.Multiple novel prostate cancer predisposition loci confirmed by an international study: the PRACTICAL Consortium.Improving identification of lynch syndrome patients: a comparison of research data with clinical records.Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.Polymorphisms at the glutathione S-transferase GSTM1, GSTT1 and GSTP1 loci: risk of ovarian cancer by histological subtype.Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics.BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expressionGenetic evidence and integration of various data sources for classifying uncertain variants into a single model.Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation CarriersConsequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicityPrediction and assessment of splicing alterations: implications for clinical testing.Common genetic variants and modification of penetrance of BRCA2-associated breast cancerPolymorphisms in the FGF2 gene and risk of serous ovarian cancer: results from the ovarian cancer association consortium.
P50
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P50
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Amanda B. Spurdle
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Amanda B. Spurdle
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Amanda B. Spurdle
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Amanda B. Spurdle
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Amanda Spurdle
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Amanda B. Spurdle
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Amanda B. Spurdle
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Amanda B. Spurdle
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Amanda B. Spurdle
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Amanda B. Spurdle
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P1053
A-4978-2011
P106
P1153
7004642026
P21
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19146030606035862425
P31
P3829
P496
0000-0003-1337-7897
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P7859
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