Amanda B. Spurdle

Research interests

Publications

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

  The American Journal of Human Genetics · 2023 · https://doi.org/10.1016/j.ajhg.2023.06.002

• Helicobacter pylori , Homologous-Recombination Genes, and Gastric Cancer

  New England Journal of Medicine · 2023 · https://doi.org/10.1056/nejmoa2211807

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

  Nature Communications · 2018 · https://doi.org/10.1038/s41467-018-06581-8

• Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases

  JAMA Oncology · 2017 · https://doi.org/10.1001/jamaoncol.2016.5945

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

  Cancer Epidemiology Biomarkers & Prevention · 2016 · https://doi.org/10.1158/1055-9965.epi-16-0106

• Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

  The American Journal of Human Genetics · 2016 · https://doi.org/10.1016/j.ajhg.2016.03.001

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

  JNCI Journal of the National Cancer Institute · 2016 · https://doi.org/10.1093/jnci/djw302

• Type I and II Endometrial Cancers: Have They Different Risk Factors?

  Journal of Clinical Oncology · 2013 · https://doi.org/10.1200/jco.2012.48.2596

• Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array

  Nature Genetics · 2013 · https://doi.org/10.1038/ng.2560

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

  Nature Genetics · 2013 · https://doi.org/10.1038/ng.2854

• 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

  Journal of Medical Genetics · 2012 · https://doi.org/10.1136/jmedgenet-2011-100714

• Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1 / 2 (CIMBA)

  Cancer Epidemiology Biomarkers & Prevention · 2012 · https://doi.org/10.1158/1055-9965.epi-11-0775

• Rare variants in the ATMgene and risk of breast cancer

  Breast Cancer Research · 2011 · https://doi.org/10.1186/bcr2919

• ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

  Human Mutation · 2011 · https://doi.org/10.1002/humu.21628

• Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study

  Nature Genetics · 2011 · https://doi.org/10.1038/ng.882

• 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

  Nature Genetics · 2010 · https://doi.org/10.1038/ng.669

• Associations of Breast Cancer Risk Factors With Tumor Subtypes: A Pooled Analysis From the Breast Cancer Association Consortium Studies

  JNCI Journal of the National Cancer Institute · 2010 · https://doi.org/10.1093/jnci/djq526

• Identification of seven new prostate cancer susceptibility loci through a genome-wide association study

  Nature Genetics · 2009 · https://doi.org/10.1038/ng.450

• Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2

  Nature Genetics · 2009 · https://doi.org/10.1038/ng.354

• Heterogeneity of Breast Cancer Associations with Five Susceptibility Loci by Clinical and Pathological Characteristics

  PLoS Genetics · 2008 · https://doi.org/10.1371/journal.pgen.1000054

• Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

  Human Mutation · 2008 · https://doi.org/10.1002/humu.20880

• Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

  The American Journal of Human Genetics · 2008 · https://doi.org/10.1016/j.ajhg.2008.02.008

• A common coding variant in CASP8 is associated with breast cancer risk

  Nature Genetics · 2007 · https://doi.org/10.1038/ng1981

• RAD51 135G→C Modifies Breast Cancer Risk among BRCA2 Mutation Carriers: Results from a Combined Analysis of 19 Studies

  The American Journal of Human Genetics · 2007 · https://doi.org/10.1086/522611

• The Geographic Distribution of Human Y Chromosome Variation

  Genetics · 1997 · https://doi.org/10.1093/genetics/145.3.787

Current projects

No projects listed.