List of works - Amanda Spurdle

Genome-wide association study identifies novel breast cancer susceptibility loci

scientific article published on 28 June 2007

Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies

scientific article

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

scientific article

A common coding variant in CASP8 is associated with breast cancer risk

article

Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array

scientific article

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

scientific article published on 29 March 2009

Identification of seven new prostate cancer susceptibility loci through a genome-wide association study

scientific article

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

scientific article published on April 2013

Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics

scientific article

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

scientific article

A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer

scientific article published on 14 September 2014

Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study

scientific article

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

scientific article

Type I and II endometrial cancers: have they different risk factors?

scientific article published on 03 June 2013

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 5 December 2011

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

scientific article published on 3 November 2011

RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies

scientific article published on 16 October 2007

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study

scientific article published on 23 February 2017

Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium

scientific article

Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification.

scientific article published on March 2012

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

scientific article

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

scientific article published on 24 April 2017

Rare variants in the ATM gene and risk of breast cancer

scientific article published on 25 July 2011

Multiple novel prostate cancer predisposition loci confirmed by an international study: the PRACTICAL Consortium

scientific article

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

article

Genome-wide association study identifies a common variant associated with risk of endometrial cancer

scientific article

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

scientific article

The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers

scientific article published on 03 October 2016

Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression

scientific article published on 27 March 2013

A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease

scientific article

Prediction and assessment of splicing alterations: implications for clinical testing

scientific article

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

scientific article published on 27 March 2013

Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource

scientific article

Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors

scientific article published on 27 March 2013

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.

scientific article published on 30 June 2009

Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

scientific article

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

scientific article

BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance

scientific article published on 07 July 2015

Association of ESR1 gene tagging SNPs with breast cancer risk

scientific article published on 06 January 2009

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

scientific article

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions

scientific article

The CYP3A4*1B polymorphism has no functional significance and is not associated with risk of breast or ovarian cancer

article

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

scientific article

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

scientific article published in September 2016

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

scientific article

List of works by Amanda Spurdle

Genome-wide association study identifies novel breast cancer susceptibility loci

Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

A common coding variant in CASP8 is associated with breast cancer risk

Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

Identification of seven new prostate cancer susceptibility loci through a genome-wide association study

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer

Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study

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

Type I and II endometrial cancers: have they different risk factors?

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

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

RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study

Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium

Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification.

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

Rare variants in the ATM gene and risk of breast cancer

Multiple novel prostate cancer predisposition loci confirmed by an international study: the PRACTICAL Consortium

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

Genome-wide association study identifies a common variant associated with risk of endometrial cancer

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers

Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression

A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease

Prediction and assessment of splicing alterations: implications for clinical testing

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource

Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.

Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance

Association of ESR1 gene tagging SNPs with breast cancer risk

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

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions

The CYP3A4*1B polymorphism has no functional significance and is not associated with risk of breast or ovarian cancer

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers