Search filters

List of works by Amanda Ewart Toland

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

article

A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium

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

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

scientific article

Abstract 3266: Expression quantitative trait locus analysis of triple negative breast cancer

scientific article published on 30 September 2014

Allele-specific imbalance mapping at human orthologs of mouse susceptibility to colon cancer (Scc) loci.

scientific article published on 13 May 2015

Allele-specific imbalance mapping identifies HDAC9 as a candidate gene for cutaneous squamous cell carcinoma.

scientific article published on 16 July 2013

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

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

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

scientific article published on 12 December 2012

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 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 genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

scientific article published on 06 April 2016

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

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

scientific article published on August 2012

BRCA1 and BRCA2 Pathogenic Sequence Variants in Women of African Origin or Ancestry

scientific article published on 03 July 2019

Benchmarking short sequence mapping tools

scientific article

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

scientific article

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

scientific article

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

scientific article

Characterization of BRCA1 ring finger variants of uncertain significance

scientific article

Chromosomal aberrations in UVB-induced tumors of immunosuppressed mice.

scientific article published on June 2009

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

scientific article published on 15 February 2018

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

scientific article published on 29 September 2008

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 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

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

Counselees' Perspectives of Genomic Counseling Following Online Receipt of Multiple Actionable Complex Disease and Pharmacogenomic Results: a Qualitative Research Study

scientific article published on 5 December 2016

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

scientific article

Design and implementation of a randomized controlled trial of genomic counseling for patients with chronic disease

scientific article

Developing risk prediction models for melanoma: balancing better predictive value with ease of clinical implementation

scientific article published on 13 October 2019

Differential expression of miR-1, a putative tumor suppressing microRNA, in cancer resistant and cancer susceptible mice

scientific article published on 16 April 2013

Differential mutation frequencies in metastatic cutaneous squamous cell carcinomas versus primary tumors

scientific article published in December 2016

Discovery of common and rare genetic risk variants for colorectal cancer

scientific article published on 03 December 2018

EMR documentation of physician-patient communication following genomic counseling for actionable complex disease and pharmacogenomic results

scientific article published on 20 June 2016

Early Outcome Data Assessing Utility of a Post-Test Genomic Counseling Framework for the Scalable Delivery of Precision Health

article

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

scientific article published on 20 February 2009

Evaluation of Allele-Specific Somatic Changes of Genome-Wide Association Study Susceptibility Alleles in Human Colorectal Cancers ⬇️

scientific article (publication date: 2012)

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

scientific article

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

scientific article

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

scientific article

Expression of cancer-testis antigens MAGEA1, MAGEA3, ACRBP, PRAME, SSX2, and CTAG2 in myxoid and round cell liposarcoma

scientific article

FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium

scientific article published on February 2014

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

scientific article published on 4 February 2015

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

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

scientific article

Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk

scientific article

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

scientific article

Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks

scientific article published on 9 September 2015

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

scientific article published on 7 September 2016

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

Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer

scientific article published on 01 March 2019

Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

scientific article

Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

scientific article

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)

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

scientific article

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

article

Genome-wide association studies and polygenic risk scores for skin cancer: clinically useful yet?

scientific article published on 07 July 2019

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

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)

Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma

scientific article published on 10 February 2020

Germline Variants Impact Somatic Events during Tumorigenesis

scientific article published on 22 May 2019

Germline Variation Controls the Architecture of Somatic Alterations in Tumors ⬇️

scientific article published on September 23, 2010

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

scientific article

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

scientific article

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

scientific article

High risk cutaneous squamous cell carcinoma of the head and neck

scientific article published in June 2016

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

scientific article

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

scientific article

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

Informational odds ratio: a useful measure of epidemiologic association in environment exposure studies.

scientific article published on 3 April 2012

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

scientific article

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

Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

scientific article

Lack of germ-line promoter methylation in BRCA1-negative families with familial breast cancer.

scientific article

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

scientific article published on 01 September 2019

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

scientific article published in December 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

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

scientific article

Leptin and reproduction

scientific article published on 01 October 2002

Linking distant relatives with BRCA gene mutations: potential for cost savings ⬇️

scientific article published on June 24, 2013

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

scientific article

Maternal age at delivery and fertility of the next generation

scientific article published on 09 March 2020

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

Merkel cell polyomavirus in cutaneous squamous cell carcinoma of immunocompetent individuals

scientific article published on 25 June 2009

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

scientific article published on 2 April 2009

MicroRNA related polymorphisms and breast cancer risk

scientific article

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

scientific article published on 15 February 2018

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

scientific article published in May 2015

Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing

scientific article published on 19 February 2018

Outcomes of a Randomized Controlled Trial of Genomic Counseling for Patients Receiving Personalized and Actionable Complex Disease Reports

scientific article published on 27 March 2017

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

scientific article

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

scientific article published in December 2016

POT1 pathogenic variants: not all telomere pathway genes are equal in risk of hereditary cutaneous melanoma

scientific article published on 01 July 2019

PTPRJ haplotypes and colorectal cancer risk

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

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

scientific article published on 11 June 2015

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

scientific article published on 8 April 2015

Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

scientific article published on 10 April 2018

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

Risk prediction tools for keratinocyte carcinoma after solid organ transplantation: a review of the literature.

scientific article

Salivary gland cancer in BRCA-positive families: a retrospective review.

scientific article published on December 2014

Sequence divergence of Mus spretus and Mus musculus across a skin cancer susceptibility locus

scientific article

Sequencing technology status of BRCA1/2 testing in Latin American Countries

scientific article published on 02 June 2020

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

Single Nucleotide Polymorphisms in β-Carotene Oxygenase 1 are Associated with Plasma Lycopene Responses to a Tomato-Soy Juice Intervention in Men with Prostate Cancer

scientific article published on 01 March 2019

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

scientific article published on 10 May 2017

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 Combined Influence of Oral Contraceptives and Human Papillomavirus Virus on Cutaneous Squamous Cell Carcinoma ⬇️

scientific article published on March 27, 2011

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

scientific article published on 01 November 2019

The genetics of cancer susceptibility: from mouse to man.

scientific article published on March 2004

The impact of 3'UTR variants on differential expression of candidate cancer susceptibility genes

scientific article

The influence of sex, age and sunlight exposure on mutational processes in melanoma

scientific article published on 28 December 2020

The p.Ser64Leu and p,Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response

scientific article published on 10 November 2020

The role for oxidative stress in aberrant DNA methylation in Alzheimer's disease

scientific article

The role of parental and grandparental epigenetic alterations in familial cancer risk

scientific article

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

scientific article published on 01 March 2020

Two truncating variants in FANCC and breast cancer risk

scientific article published on 29 August 2019

Variants at the OCA2/HERC2 locus affect time to first cutaneous squamous cell carcinoma in solid organ transplant recipients collected using two different study designs

scientific article published on 29 April 2017

Variants in an Hdac9 intronic enhancer plasmid impact Twist1 expression in vitro

scientific article published on 31 December 2015

mrSNP: software to detect SNP effects on microRNA binding

scientific article

Paulina is supported by:

About Paulina

Help