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Genetics

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105
Citations
43947
World Ranking
625
National Ranking
16

Medicine

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108
Citations
46017
World Ranking
5973
National Ranking
168

Overview

Amanda B. Spurdle is affiliated with the QIMR Berghofer Medical Research Institute in Australia. Their research contributions span biochemistry, genetics, molecular biology, and medicine, with a focus on genetics, molecular biology, and cancer research as key subfields.

Their scholarly output prominently addresses topics such as BRCA gene mutations in cancer, genomics and rare diseases, cancer genomics and diagnostics, genetic factors in colorectal cancer, genomic variations and chromosomal abnormalities, genetic associations and epidemiology, and RNA research and splicing.

Spurdle has contributed to numerous publications, with frequent venues including:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Human Mutation
  • The American Journal of Human Genetics
  • Genetics in Medicine
  • Journal of Medical Genetics

Recent papers authored or co-authored by Spurdle comprise:

  • Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup (2023, The American Journal of Human Genetics)
  • Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer (2023, New England Journal of Medicine)
  • Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants (2022, JAMA Oncology)
  • Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes (2022, JAMA Oncology)
  • Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants (2020, Human Mutation)

Collaborative work is a significant aspect of Spurdle's research activity. Frequent co-authors include:

  • Paul A. James
  • Michael T. Parsons
  • Cristina Fortuño
  • Tracy A. O'Mara
  • Tina Pesaran

Best Publications

  • Genome-wide association study identifies novel breast cancer susceptibility loci

    Douglas F. Easton;Karen A. Pooley;Alison M. Dunning;Paul D. P. Pharoah

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

    Sharon E. Plon;Diana M. Eccles;Douglas Easton;William D. Foulkes

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

    Xiaohong R. Yang;Jenny Chang-Claude;Ellen L. Goode;Fergus J. Couch

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

    Veronica Wendy Setiawan;Hannah P. Yang;Malcolm C. Pike;Malcolm C. Pike;Susan E. McCann;Susan E. McCann

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

    Leila Dorling;Sara Carvalho;Jamie Allen

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

    Nasim Mavaddat;Daniel Barrowdale;Irene L. Andrulis;Susan M. Domchek

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

    Angela Cox;Alison M. Dunning;Montserrat Garcia-Closas;Sabapathy Balasubramanian

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

    Rosalind A. Eeles;Ali Amin Al Olama;Sara Benlloch;Edward J. Saunders

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

    Stig E. Bojesen;Stig E. Bojesen;Karen A. Pooley;Sharon E. Johnatty;Jonathan Beesley

  • Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

    Felix R. Day;Deborah J. Thompson;Hannes Helgason;Hannes Helgason;Daniel I. Chasman

  • CHEK2*1100delC and Susceptibility to Breast Cancer: A Collaborative Analysis Involving 10,860 Breast Cancer Cases and 9,065 Controls from 10 Studies

    D Easton;L McGuffog;D Thompson;A Dunning

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

    Shahana Ahmed;Gilles Thomas;Maya Ghoussaini;Catherine S. Healey

  • Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases A Mendelian Randomization Study

    Philip C Haycock;Stephen Burgess;Aayah Nounu

  • A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer

    Ali Amin Al Olama;Zsofia Kote-Jarai;Sonja I. Berndt;David V. Conti

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

    Timothy R. Rebbeck;Nandita Mitra;Fei Wan;Olga M. Sinilnikova

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

    Rosalind A. Eeles;Zsofia Kote-Jarai;Ali Amin Al Olama;Graham G. Giles;Graham G. Giles

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

    Bryony A Thompson;Bryony A Thompson;Amanda B Spurdle;John-Paul Plazzer;Marc S Greenblatt

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

    Montserrat Garcia-Closas;Per Hall;Heli Nevanlinna;Karen Pooley

  • Dominant Negative ATM Mutations in Breast Cancer Families

    Georgia Chenevix-Trench;Amanda B. Spurdle;Magtouf Gatei;Helena Kelly

  • Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

    Day Fr;Thompson Dj;elgason H;Chasman Di

Frequent Co-Authors

Georgia Chenevix-Trench
Georgia Chenevix-Trench QIMR Berghofer Medical Research Institute
Graham G. Giles
Graham G. Giles University of Melbourne
Melissa C. Southey
Melissa C. Southey Monash University
Douglas F. Easton
Douglas F. Easton University of Cambridge
John L. Hopper
John L. Hopper University of Melbourne
Fergus J. Couch
Fergus J. Couch Mayo Clinic
Paul D.P. Pharoah
Paul D.P. Pharoah University of Cambridge
Irene L. Andrulis
Irene L. Andrulis University of Toronto
Hiltrud Brauch
Hiltrud Brauch German Cancer Research Center
David E. Goldgar
David E. Goldgar University of Utah

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