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Sean V. Tavtigian

Sean V. Tavtigian

D-Index & Metrics

Genetics

D-Index
81
Citations
52215
World Ranking
1490
National Ranking
697

Medicine

D-Index
81
Citations
52424
World Ranking
16363
National Ranking
8231

Overview

Sean V. Tavtigian is affiliated with the University of Utah in the United States and has a scholarly focus in the fields of Biochemistry, Genetics, and Molecular Biology, with a significant body of work spanning 101 publications. They have also contributed extensively to Medicine, with 41 publications noted. Their research covers various subfields, including Genetics, Molecular Biology, Pathology and Forensic Medicine, Cancer Research, and Oncology.

The scientist's research topics reflect a concentration on genetic factors affecting health and disease. Frequent topics include Genomics and Rare Diseases, Genetic factors in colorectal cancer, BRCA gene mutations in cancer, Cancer Genomics and Diagnostics, Genetic Associations and Epidemiology, Genomic variations and chromosomal abnormalities, and CRISPR and Genetic Engineering.

Sean V. Tavtigian has published frequently in venues such as bioRxiv (Cold Spring Harbor Laboratory), The American Journal of Human Genetics, Genetics in Medicine Open, Genetics in Medicine, and Human Mutation. These publications collectively indicate strong engagement with genetics and clinical genomics communities.

Significant recent papers illustrating their contributions include:

  • Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, 2024, The American Journal of Human Genetics
  • 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
  • Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria, 2022, The American Journal of Human Genetics
  • Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I), 2021, Journal of Personalized Medicine
  • Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines, 2020, Human Mutation

Collaborative work is a notable aspect of their career, with frequent co-authors including Tina Pesaran, Marc S. Greenblatt, Amanda B. Spurdle, Steven M. Harrison, and Leslie G. Biesecker. These collaborations suggest a network centered on genetic variant interpretation and clinical genomics.

Best Publications

  • A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

    Yoshio Miki;Jeff Swensen;Donna Shattuck-Eidens;P. Andrew Futreal

  • A cell cycle regulator potentially involved in genesis of many tumor types

    Alexander Kamb;Nelleke A. Gruis;Jane Weaver-Feldhaus;Qingyun Liu

  • A draft sequence of the rice genome (Oryza sativa L. ssp indica)

    Stephen A. Goff;Darrell Ricke;Tien-Hung Lan;Gernot Presting

  • Identification of a candidate tumour suppressor gene, MMAC1 , at chromosome 10q23.3 that is mutated in multiple advanced cancers

    P. A. Steck;M. A. Pershouse;S. A. Jasser;W. K. A. Yung

  • Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database.

    Audrey Petitjean;Ewy Mathe;Ewy Mathe;Shunsuke Kato;Chikashi Ishioka

  • Whole-Genome Shotgun Assembly and Analysis of the Genome of Fugu rubripes

    Samuel Aparicio;Jarrod Chapman;Elia Stupka;Nik Putnam

  • BRCA1 mutations in primary breast and ovarian carcinomas

    P. Andrew Futreal;Qingyun Liu;Donna Shattuck-Eidens;Charles Cochran

  • The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.

    S.V. Tavtigian;J. Simard;J. Rommens;F. Couch

  • Clinical Characteristics of Individuals With Germline Mutations in BRCA1 and BRCA2: Analysis of 10,000 Individuals

    Thomas S. Frank;Amie M. Deffenbaugh;Julia E. Reid;Mark Hulick

  • Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk

    Douglas Frederick Easton;Paul David Pharoah;Antonis C. Antoniou;Marc Derek Tischkowitz

  • 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

  • Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

    Sean V Tavtigian;Amie M Deffenbaugh;Luo Yin;Thaddeus Judkins

  • A candidate prostate cancer susceptibility gene at chromosome 17p.

    Sean V. Tavtigian;Jacques Simard;David H F Teng;Vicki Abtin

  • RAD51 interacts with the evolutionarily conserved BRC motifs in the human breast cancer susceptibility gene brca2.

    Alexander K.C. Wong;Ralph Pero;Patricia A. Ormonde;Sean V. Tavtigian

  • A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes.

    Steinunn Thorlacius;Gudridur Olafsdottir;Laufey Tryggvadottir;Susan Neuhausen

  • Complex Structure and Regulation of the P16 (MTS1) Locus

    Steven Stone;Ping Jiang;Priya Dayananth;Sean V. Tavtigian

  • Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.

    David E. Goldgar;Douglas F. Easton;Amie M. Deffenbaugh;Alvaro N.A. Monteiro

  • A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes

    Douglas F. Easton;Amie M. Deffenbaugh;Dmitry Pruss;Cynthia Frye

  • BRCA1 Sequence Analysis in Women at High Risk for Susceptibility Mutations: Risk Factor Analysis and Implications for Genetic Testing

    Donna Shattuck-Eidens;Arnold Oliphant;Melody McClure;Celeste McBride

  • 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

Frequent Co-Authors

David E. Goldgar
David E. Goldgar University of Utah
Mark H. Skolnick
Mark H. Skolnick Myriad Genetics (Germany)
Amanda B. Spurdle
Amanda B. Spurdle QIMR Berghofer Medical Research Institute
Lisa A. Cannon-Albright
Lisa A. Cannon-Albright University of Utah
Melissa C. Southey
Melissa C. Southey Monash University
Esther M. John
Esther M. John Stanford University
Fergus J. Couch
Fergus J. Couch Mayo Clinic
John L. Hopper
John L. Hopper University of Melbourne
Georgia Chenevix-Trench
Georgia Chenevix-Trench QIMR Berghofer Medical Research Institute
Irene L. Andrulis
Irene L. Andrulis University of Toronto

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