M. Parsons

发表

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

Jane E. Carpenter, Jaana M. Hartikainen, W. Chung, 2019, Nature Genetics.

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

Jack A. Taylor, W. Chung, S. Cross, 2019, bioRxiv.

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

P. Radivojac, R. Casadio, O. Lichtarge, 2019, Human mutation.

Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

Sofia Khan, E. John, A. Spurdle, 2020, npj Breast Cancer.

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

K. Kyriacou, B. Bonanni, O. Olopade, 2019, Human mutation.

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.

Alexander M. Metcalf, A. Spurdle, F. Lose, 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2018, Nucleic acids research.

Polygenic Risk Modelling for Prediction of Epithelial Ovarian Cancer Risk

A. Whittemore, W. Chung, L. Kiemeney, 2020, medRxiv.

Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

Jane E. Carpenter, Jaana M. Hartikainen, A. Whittemore, 2014, Breast Cancer Research.

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants

D. Nix, A. Spurdle, S. Tavtigian, 2016, Human mutation.

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Annette Lee, W. Chung, R. Nussbaum, 2018, Human mutation.

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

R. Nussbaum, F. Couch, J. Benítez, 2017, European Journal of Human Genetics.

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).

W. Chung, F. Couch, B. Bonanni, 2020, JAMA oncology.

BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry

Annette Lee, F. Couch, O. Olopade, 2019, Human mutation.

Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer.

Sofia Khan, E. John, A. Spurdle, 2020, NPJ breast cancer.

Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.

J. Pearson, A. Spurdle, S. Nik-Zainal, 2019 .

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

N. de Wind, A. Spurdle, S. Tavtigian, 2020, Frontiers in Genetics.

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

W. Chung, D. Steinemann, F. Couch, 2022, Communications Biology.

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.

F. Couch, P. Møller, J. Hopper, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Jaana M. Hartikainen, M. Beckmann, P. Fasching, 2021, The New England journal of medicine.

A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry

Steven Gallinger, John L Hopper, Sean V Tavtigian, 2013, Human mutation.

Reply to J. Moline et al.

Alexander M. Metcalf, A. Spurdle, F. Lose, 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Shared heritability and functional enrichment across six solid cancers

K. D. Sørensen, Stephanie A. Bien, Ali Amin Al Olama, 2018, bioRxiv.

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

Stefania Tommasi, Laura Cortesi, Mads Thomassen, 2019, Cancer research.

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

D. Steinemann, F. Couch, B. Bonanni, 2020, Genetics in Medicine.

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

Jack A. Taylor, W. Chung, S. Cross, 2019, bioRxiv.

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

Rodney J Scott, John-Paul Plazzer, Finlay Macrae, 2013, Nature Genetics.

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

Jack A. Taylor, W. Chung, S. Cross, 2020 .

Classification of genetic variants in hereditary cancer genes

L. Feliubadaló, M. Parsons, M. Pineda, 2021 .

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort

F. Couch, A. Spurdle, E. Polley, 2019, Genetics in Medicine.

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

Katherine M. Tucker, Sebastian A. Wagner, Kelly J. Sullivan, 2019, Human Mutation.

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

Leslie Burke, Thilo Dörk, Paolo Radice, 2019, Journal of Medical Genetics.

GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes

A. Spurdle, C. Lázaro, P. Radice, 2019, Cancers.

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

Gunnar Rätsch, Brian Craft, David Haussler, 2018, PLoS genetics.

Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val)

A. Spurdle, C. Lázaro, A. V. D. van den Ouweland, 2018, Breast Cancer Research and Treatment.

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

O. Olopade, A. Spurdle, D. Baralle, 2016, Journal of Medical Genetics.

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

W. Chung, T. Fehm, T. Rebbeck, 2022, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers

J. Pearson, A. Spurdle, S. Nik-Zainal, 2019, Annals of oncology : official journal of the European Society for Medical Oncology.

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

A. Spurdle, C. Houdayer, L. Walker, 2019, Front. Genet..

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

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2019, Nature Genetics.

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

A. Spurdle, Joanne P Young, B. Thompson, 2012, Journal of Medical Genetics.

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity

John L Hopper, Kathy Tucker, Bryony A Thompson, 2015, Molecular carcinogenesis.

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

Harvey Risch, Yian A Chen, Mads Thomassen, 2018, Cancer research.

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach

L. Andrews, P. Møller, A. Spurdle, 2022, Human mutation.

Value of the loss of heterozygosity to BRCA1 variant classification

A. Spurdle, M. Southey, A. Vincent-Salomon, 2022, npj Breast Cancer.

Value of the loss of heterozygosity to BRCA1 variant classification

A. Spurdle, M. Southey, A. Vincent-Salomon, 2022, NPJ breast cancer.

Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model

J. Pearson, A. Spurdle, N. Waddell, 2021, Human mutation.

Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort

M. Cline, A. Spurdle, Y. Momozawa, 2021, bioRxiv.

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

W. Chung, D. Steinemann, F. Couch, 2019, British Journal of Cancer.

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.

Julian Peto, Kyriaki Michailidou, Kamila Czene, 2016, Human molecular genetics.

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

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2019, Nature Communications.

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

A. Spurdle, C. Houdayer, D. Vidaud, 2022, Human mutation.

BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

Etienne Rouleau, Paolo Peterlongo, Eliseos J Mucaki, 2018, Human mutation.

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls

Y. Kamatani, T. Katagiri, K. Matsuda, 2018, Nature Communications.

DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer

Robert Brown, A. Spurdle, M. El-Bahrawy, 2015, Epigenetics.

Polygenic risk modeling for prediction of epithelial ovarian cancer risk

A. Whittemore, W. Chung, L. Kiemeney, 2022, European Journal of Human Genetics.

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

F. Couch, O. Olopade, J. Benítez, 2021, Journal of the National Cancer Institute.

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2021, Nature Communications.

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

S. Cross, M. Beckmann, P. Fasching, 2018, Human mutation.

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

W. Chung, F. Couch, O. Olopade, 2021, Genetics in Medicine.

Considerations in assessing germline variant pathogenicity using cosegregation analysis

Amanda B. Spurdle, David E. Goldgar, Michael T. Parsons, 2020, Genetics in Medicine.

SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion

A. Spurdle, O. Kondrashova, M. de la Hoya, 2022, bioRxiv.

A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity

Amanda B. Spurdle, Michael T. Parsons, Sarah E. Hunt, 2018, Bioinform..

Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122A>G(p.His41Arg) Is a Pathogenic Mutation

Amanda B. Spurdle, Michael T. Parsons, David E. Goldgar, 2014, PloS one.

Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants

Y. Kamatani, K. Matsuda, A. Spurdle, 2022, JAMA oncology.

Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients

A. Spurdle, L. Walker, C. Lintott, 2020, Breast Cancer Research and Treatment.

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

W. Chung, M. Beckmann, P. Fasching, 2019, npj Breast Cancer.

TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family Members

Dale W. Garsed, Kenneth D. Doig, L. Andrews, 2022, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2019, Nucleic acids research.

Estimation of probabilities in favour of pathogenicity for missense substitutions for use in clinical evaluation of mismatch repair gene variants

A. Spurdle, C. Paterson, B. Thompson, 2012, Hereditary Cancer in Clinical Practice.

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

M. Beckmann, N. Camp, Jingmei Li, 2021, medRxiv.

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls

Y. Kamatani, T. Katagiri, K. Matsuda, 2018, Nature Communications.

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

A. Whittemore, B. Karlan, E. John, 2023, British Journal of Cancer.

PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants

N. Camp, K. Czene, A. Schneeweiss, 2023, NPJ breast cancer.

Childhood predictors of adult obesity: a systematic review.

C. Summerbell, T. Parsons, C. Power, 1999, International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity.

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.

Dana M. Bis-Brewer, S. Brenner, H. Rehm, 2023, American journal of human genetics.

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP

Dana M. Bis-Brewer, A. Spurdle, L. Walker, 2023, medRxiv.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2018, Nucleic acids research.

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

Jane E. Carpenter, W. Chung, M. Beckmann, 2019, npj Breast Cancer.

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

L. Kiemeney, P. Fasching, R. Nussbaum, 2018, Cancer research.

Genetic Epidemiology

K. Humphreys, O. Olopade, B. Karlan, 2011, Methods in Molecular Biology.

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.

F. Couch, P. Møller, J. Hopper, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Genetic Epidemiology

K. Humphreys, O. Olopade, B. Karlan, 2020, Methods in Molecular Biology.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2018, Nucleic Acids Research.

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

Jack A. Taylor, S. Cross, C. Vachon, 2020, Genetic epidemiology.