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Biology and Biochemistry

D-Index
61
Citations
14618
World Ranking
11279
National Ranking
4887

Overview

Alvaro N.A. Monteiro is affiliated with the University of South Florida in the United States and has contributed extensively to the fields of biochemistry, genetics, and molecular biology, with a specific focus in genetics and molecular biology subfields. Their research spans topics including BRCA gene mutations in cancer, genomics and rare diseases, CRISPR and genetic engineering, PARP inhibition in cancer therapy, genetic associations and epidemiology, DNA repair mechanisms, and ovarian cancer diagnosis and treatment.

Their recent publications demonstrate a concentration on variant classification and functional analysis in hereditary cancer genes. Notable papers include:

  • Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, 2024, published in The American Journal of Human Genetics
  • Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance, 2021, The American Journal of Human Genetics
  • Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation, 2020, Journal of Medical Genetics
  • Norepinephrine-Induced DNA Damage in Ovarian Cancer Cells, 2020, International Journal of Molecular Sciences
  • Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores, 2021, JNCI Journal of the National Cancer Institute

Monteiro's publications are frequently found in well-regarded venues, including:

  • The American Journal of Human Genetics
  • Cancer Research
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Clinical Cancer Research
  • Brazilian Journal of Implantology and Health Sciences

Significant collaborators in Monteiro's research efforts include Fergus J. Couch, Marcy E. Richardson, Thales C. Nepomuceno, Tina Pesaran, and Marcelo A. Carvalho, reflecting partnerships that have contributed to numerous publications.

The scientist's work spans a range of topics central to cancer genetics and molecular pathology. Key research themes include:

  • BRCA gene mutations in cancer
  • Genomics and rare diseases
  • CRISPR and genetic engineering
  • PARP inhibition in cancer therapy
  • Genetic associations and epidemiology
  • DNA repair mechanisms
  • Ovarian cancer diagnosis and treatment

Monteiro's overall publication record covers 98 works in biochemistry, genetics, and molecular biology, alongside 53 in medicine. Their research contributes to an improved understanding of hereditary cancer gene variants, mechanisms of DNA repair, and therapeutic approaches informed by genetic risk factors.

Best Publications

  • Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk

    Ganna Chornokur;Hui-Yi Lin;Jonathan P. Tyrer;Kate Lawrenson

  • 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

  • Evidence for a transcriptional activation function of BRCA1 C-terminal region

    Alvaro N. A. Monteiro;Avery August;Hidesaburo Hanafusa

  • Principles for the post-GWAS functional characterization of cancer risk loci

    Matthew L Freedman;Alvaro N A Monteiro;Simon A Gayther;Simon A Gayther;Gerhard A Coetzee

  • 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

  • BRCA1 regulates p53-dependent gene expression

    Toru Ouchi;Alvaro N. A. Monteiro;Avery August;Stuart A. Aaronson

  • 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

  • Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

    Catherine M Phelan;Karoline B Kuchenbaecker;Karoline B Kuchenbaecker;Jonathan P Tyrer;Siddhartha P Kar

  • GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer

    Paul D.P. Pharoah;Ya Yu Tsai;Susan J. Ramus;Catherine M. Phelan

  • 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

    Amanda B. Spurdle;Sue Healey;Andrew Devereau;Frans B L Hogervorst

  • A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

    Noralane M. Lindor;Lucia Guidugli;Xianshu Wang;Maxime P. Vallée

  • BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance

    D. M. Eccles;G. Mitchell;G. Mitchell;A. N. A. Monteiro;R. Schmutzler

  • Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types.

    Siddhartha P. Kar;Jonathan Beesley;Ali Amin Al Olama;Kyriaki Michailidou

  • Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.

    Johan Vallon-Christersson;Charmagne Cayanan;Karin Haraldsson;Niklas Loman

  • A multigene mutation classification of 468 colorectal cancers reveals a prognostic role for APC

    Michael J. Schell;Mingli Yang;Jamie K. Teer;Fang Yin Lo

  • Biallelic Deleterious BRCA1 Mutations in a Woman with Early-Onset Ovarian Cancer

    Susan M. Domchek;Jiangbo Tang;Jill Stopfer;Dana R. Lilli

  • Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer

    Hui Shen;Brooke L. Fridley;Honglin Song;Kate Lawrenson

  • Comprehensive Analysis of Missense Variations in the BRCT Domain of BRCA1 by Structural and Functional Assays

    Megan S. Lee;Ruth Green;Sylvia M. Marsillac;Nicolas Coquelle

  • A guide for functional analysis of BRCA1 variants of uncertain significance

    Gaël A. Millot;Marcelo A. Carvalho;Sandrine M. Caputo;Maaike P.G. Vreeswijk

  • p53 Acetylation Is Crucial for Its Transcription-independent Proapoptotic Functions

    Hirohito Yamaguchi;Nicholas T. Woods;Landon G. Piluso;Heng Huan Lee

Frequent Co-Authors

Joellen M. Schildkraut
Joellen M. Schildkraut University of Virginia
Susan J. Ramus
Susan J. Ramus University of New South Wales
Paul D.P. Pharoah
Paul D.P. Pharoah University of Cambridge
Catherine M. Phelan
Catherine M. Phelan University of South Florida
Ellen L. Goode
Ellen L. Goode Mayo Clinic
Graham G. Giles
Graham G. Giles University of Melbourne
Fergus J. Couch
Fergus J. Couch Mayo Clinic
Thomas A. Sellers
Thomas A. Sellers Oregon Health & Science University
Andrew Berchuck
Andrew Berchuck Duke University
Ian G. Campbell
Ian G. Campbell Peter MacCallum Cancer Centre

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