List of works - Lesley McGuffog

A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

article

A genome wide linkage search for breast cancer susceptibility genes

scientific article published on July 2006

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

A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers

scientific article published on December 2006

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

scientific article

A risk prediction algorithm based on family history and common genetic variants: application to prostate cancer with potential clinical impact

scientific article published on 18 July 2011

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

scientific article

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

scientific article published on 25 April 2015

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

scientific article

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

scientific article

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

scientific article published on 13 November 2019

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.

scientific article

Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

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

scientific article

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

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

scientific article

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

scientific article published on 11 January 2022

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

scientific article

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

scientific article

Cancer Risks Associated With and Pathogenic Variants

scientific article published on 10 May 2022

Cancer risks and mortality in heterozygous ATM mutation carriers

scientific article

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 02 July 2020

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

scientific article published on 23 March 2016

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

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

scientific article

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

scientific article

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

scientific article

Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

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

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 20 February 2012

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

scientific article published on 05 August 2009

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

scientific article

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

scientific article

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

scientific article

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

scientific article

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

scientific article

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

scientific article published on February 2017

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

scientific article

Exploring the link between MORF4L1 and risk of breast cancer

scientific article

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

scientific article

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

scientific article published on 07 January 2020

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

scientific article published on 7 September 2016

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article

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

article

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

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

scientific article (publication date: 2013)

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

scientific article

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

scientific article published on 01 April 2019

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

scientific article

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

scientific article published on 27 March 2013

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

scientific article published on 27 April 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

scientific article

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

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

scientific article published on 23 October 2017

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

scientific article

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

scientific article

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

scientific article (publication date: May 2002)

Lymphocyte telomere length is long in BRCA1 and BRCA2 mutation carriers regardless of cancer-affected status

scientific article

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

scientific article published on 19 June 2019

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

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

scientific article published on 15 February 2018

No association between TERT-CLPTM1L single nucleotide polymorphism rs401681 and mean telomere length or cancer risk

scientific article

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

scientific article published in May 2015

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

scientific article published on 11 December 2008

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

scientific article

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

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

Pathology of ovarian cancers in BRCA1 and BRCA2 carriers

scientific article published on April 2004

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

scientific article published on 15 July 2020

Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype

scientific article published on July 2005

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

scientific article

Prostate cancer segregation analyses using 4390 families from UK and Australian population-based studies

article

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

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

Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

scientific article published on June 2017

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

scientific article published on 20 February 2018

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

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

scientific article published on 03 October 2016

The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2.

scientific article published in May 2002

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

scientific article published on 26 July 2019

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

scientific article published on 01 March 2020

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

article

List of works by Lesley McGuffog

A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

A genome wide linkage search for breast cancer susceptibility genes

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

A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

A risk prediction algorithm based on family history and common genetic variants: application to prostate cancer with potential clinical impact

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

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

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

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

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

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.

Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

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

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

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

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

Cancer Risks Associated With and Pathogenic Variants

Cancer risks and mortality in heterozygous ATM mutation carriers

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

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

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

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

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

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

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

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

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

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

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

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

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

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

Exploring the link between MORF4L1 and risk of breast cancer

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

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

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

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

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

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

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

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

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

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

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

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

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

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

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

Lymphocyte telomere length is long in BRCA1 and BRCA2 mutation carriers regardless of cancer-affected status

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

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

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

No association between TERT-CLPTM1L single nucleotide polymorphism rs401681 and mean telomere length or cancer risk

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

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

Pathology of ovarian cancers in BRCA1 and BRCA2 carriers

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

Prostate cancer segregation analyses using 4390 families from UK and Australian population-based studies

Publisher Correction: Shared heritability and functional enrichment across six solid cancers