List of works - Amanda Ewart Toland

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

scientific article

Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer

scientific article

Breast-cancer risk in families with mutations in PALB2

scientific article

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

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

Prediction of breast cancer risk based on profiling with common genetic variants

scientific article published on 8 April 2015

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer

scientific article

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

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

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

scientific article published on 27 March 2013

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

scientific article published in November 2015

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

scientific article

Epigenetic alterations in the breast: Implications for breast cancer detection, prognosis and treatment

scientific article published on 20 February 2009

Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer

scientific article published on 9 December 2013

Benchmarking short sequence mapping tools

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 breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination

scientific article

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

scientific article

Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance

scientific article published on 29 September 2008

Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer

scientific article

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

scientific article

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

scientific article

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

scientific article published on 15 February 2018

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.

scientific article published on 2 November 2011

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 18 May 2011

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

scientific article published in December 2016

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

scientific article

Merkel cell polyomavirus in cutaneous squamous cell carcinoma of immunocompetent individuals

scientific article published on 25 June 2009

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

scientific article published on August 2012

Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

scientific article

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

scientific article

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

scientific article

Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.

scientific article

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

scientific article

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

scientific article published on 27 April 2016

Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

scientific article (publication date: August 2016)

mrSNP: software to detect SNP effects on microRNA binding

scientific article

Discovery of common and rare genetic risk variants for colorectal cancer

scientific article published on 03 December 2018

Methylation not a frequent "second hit" in tumors with germline BRCA mutations.

scientific article published on 2 April 2009

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing

scientific article published on 12 December 2012

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

scientific article published on 7 September 2016

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

scientific article

Germline Variation Controls the Architecture of Somatic Alterations in Tumors

scientific article published on September 23, 2010

Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

scientific article published on 4 February 2015

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

scientific article published on 31 December 2014

Characterization of BRCA1 ring finger variants of uncertain significance

scientific article

List of works by Amanda Ewart Toland

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer

Breast-cancer risk in families with mutations in PALB2

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

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

Prediction of breast cancer risk based on profiling with common genetic variants

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer

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

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

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

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

Epigenetic alterations in the breast: Implications for breast cancer detection, prognosis and treatment

Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer

Benchmarking short sequence mapping tools

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 breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance

Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer

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

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

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.

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

Merkel cell polyomavirus in cutaneous squamous cell carcinoma of immunocompetent individuals

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

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-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.

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

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

mrSNP: software to detect SNP effects on microRNA binding

Discovery of common and rare genetic risk variants for colorectal cancer

Methylation not a frequent "second hit" in tumors with germline BRCA mutations.

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Germline Variation Controls the Architecture of Somatic Alterations in Tumors

Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

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

Characterization of BRCA1 ring finger variants of uncertain significance