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Amanda B. Spurdle

Name	Amanda B. Spurdle
Ort	Australien
Geschlecht	weiblich
Beziehung	University of Queensland Brustkrebs (Thema)
Weitere Angaben	Honorary Associate Professor, Molecular and Cellular Pathology, Faculty of Medicine and Biomedical Sciences, University of Queensland, Australia
Datensatztyp	Person
GND-Nummer	1095797263
Datensatz-ID	1095797263
Beteiligt an alle anzeigen A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers Breast cancer risks associated with missense variants in breast cancer susceptibility genes A comprehensive re-assessment of the association between vitamin D and cancer susceptibility using Mendelian randomization Associations between Genetically Predicted Circulating Protein Concentrations and Endometrial Cancer Risk Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients Considerations in assessing germline variant pathogenicity using cosegregation analysis Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants Dietary inflammatory index, risk and survival among women with endometrial cancer Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val) Identification of nine new susceptibility loci for endometrial cancer Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3 Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk Evidence of Gene–Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers The kallikrein 14 gene is down-regulated by androgen receptor signalling and harbours genetic variation that is associated with prostate tumour aggressiveness 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 Rare variants in the ATMgene and risk of breast cancer Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members A Kallikrein 15 (KLK15) single nucleotide polymorphism located close to a novel exon shows evidence of association with poor ovarian cancer survival 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 No evidence for an association between the earwax-associated polymorphism in ABCC11 and breast cancer risk in Caucasian women Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2mutation carriers Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2transcripts Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development No evidence that GATA3 rs570613 SNP modifies breast cancer risk Erratum to: BCoR-L1variation and breast cancer Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? BCoR-L1 variation and breast cancer Variation in the RAD51 gene and familial breast cancer Analysis of cancer risk and BRCA1 and BRCA2mutation prevalence in the kConFab familial breast cancer resource 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 BRCA1gene with missense sequence changes and in-frame deletions, but not polymorphisms CYP17genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia

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Katalog der Deutschen Nationalbibliothek

Amanda B. Spurdle

A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer

Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services

Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

A comprehensive re-assessment of the association between vitamin D and cancer susceptibility using Mendelian randomization

Associations between Genetically Predicted Circulating Protein Concentrations and Endometrial Cancer Risk

Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients

Considerations in assessing germline variant pathogenicity using cosegregation analysis

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

Dietary inflammatory index, risk and survival among women with endometrial cancer

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls

Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val)

Identification of nine new susceptibility loci for endometrial cancer

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices

Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk

Evidence of Gene–Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors

Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers

The kallikrein 14 gene is down-regulated by androgen receptor signalling and harbours genetic variation that is associated with prostate tumour aggressiveness

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

Rare variants in the ATMgene and risk of breast cancer

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

A Kallikrein 15 (KLK15) single nucleotide polymorphism located close to a novel exon shows evidence of association with poor ovarian cancer survival

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

No evidence for an association between the earwax-associated polymorphism in ABCC11 and breast cancer risk in Caucasian women

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2mutation carriers

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2transcripts

Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

Erratum to: BCoR-L1variation and breast cancer

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

BCoR-L1 variation and breast cancer

Variation in the RAD51 gene and familial breast cancer

Analysis of cancer risk and BRCA1 and BRCA2mutation prevalence in the kConFab familial breast cancer resource

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 BRCA1gene with missense sequence changes and in-frame deletions, but not polymorphisms

CYP17genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study

The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers

No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer

The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia