List of works - Amanda Ewart Toland

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

scientific article

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

scientific article

MicroRNA related polymorphisms and breast cancer risk

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

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 role of parental and grandparental epigenetic alterations in familial cancer risk

scientific article

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

scientific 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

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

scientific article

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

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

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

scientific article published on 11 June 2015

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

scientific article published on February 2014

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

scientific article

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

scientific article

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

scientific article published on September 22, 2015

Leptin and reproduction

scientific article published on 01 October 2002

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

scientific article

Candidate genetic modifiers for breast and ovarian 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 published on January 8, 2014

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

scientific article

The genetics of cancer susceptibility: from mouse to man.

scientific article published on March 2004

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

scientific article

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

scientific article

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

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

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

scientific article published in December 2016

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

scientific article

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

scientific article

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

scientific article published on 16 July 2013

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

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

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

scientific article published on 3 April 2012

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

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

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

scientific article

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

scientific article published on 15 February 2018

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

article

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

scientific article published in May 2015

PTPRJ haplotypes and colorectal cancer risk

scientific article

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

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

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

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

scientific article

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

article

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

scientific article published on 16 April 2013

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

scientific article published on December 2014

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

scientific article published on 20 June 2016

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

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

List of works by Amanda Ewart Toland

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

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

MicroRNA related polymorphisms and breast cancer risk

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

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

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

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

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

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

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

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

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

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

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

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

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

Leptin and reproduction

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

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

Design and Implementation of a Randomized Controlled Trial of Genomic Counseling for Patients with Chronic Disease

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

The genetics of cancer susceptibility: from mouse to man.

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

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

Shared heritability and functional enrichment across six solid cancers

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

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

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

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

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

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).

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

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

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

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.

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

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

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

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

PTPRJ haplotypes and colorectal cancer risk

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

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

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

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

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

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

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

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

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

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