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Genetics
Spain
2026
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Medicine
Spain
2023

D-Index & Metrics

Genetics

D-Index
114
Citations
56173
World Ranking
464
National Ranking
7

Medicine

D-Index
116
Citations
57431
World Ranking
4310
National Ranking
61

Research.com Recognitions

  • 2026 - Research.com Genetics in Spain Leader Award
  • 2025 - Research.com Genetics in Spain Leader Award
  • 2024 - Research.com Genetics in Spain Leader Award
  • 2023 - Research.com Genetics in Spain Leader Award
  • 2023 - Research.com Medicine in Spain Leader Award

Overview

Javier Benitez is affiliated with the Instituto de Salud Carlos III in Spain. The primary fields of study for this scientist include Biochemistry, Genetics and Molecular Biology, with a strong focus on Genetics and Molecular Biology. Medicine is also an important area of their research.

Their work spans several subfields, which include Genetics, Molecular Biology, Reproductive Medicine, Cancer Research, and Oncology. The topics covered frequently in their publications are:

  • BRCA gene mutations in cancer
  • Genetic Associations and Epidemiology
  • Nutrition, Genetics, and Disease
  • Ovarian cancer diagnosis and treatment
  • Cancer-related molecular mechanisms research
  • DNA Repair Mechanisms
  • Genomics and Rare Diseases

Javier Benitez has contributed to multiple research articles, including the following recent publications:

  • Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses (2020, Nature Genetics)
  • Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes (2020, Nature Genetics)
  • Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes (2022, JAMA Oncology)
  • Prognostic gene expression signature for high-grade serous ovarian cancer (2020, Annals of Oncology)
  • Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants (2020, Genetics in Medicine)

Frequent coauthors in their publications include:

  • Irene L. Andrulis
  • D. Gareth Evans
  • Peter A. Fasching
  • Thilo Dörk
  • Manjeet K. Bolla

Research outputs have appeared in a variety of publication venues, with several articles in:

  • UNC Libraries
  • Breast Cancer Research
  • British Journal of Cancer
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Revista Española de Cardiología

Best Publications

  • Epigenetic differences arise during the lifetime of monozygotic twins

    Mario F. Fraga;Esteban Ballestar;Maria F. Paz;Santiago Ropero

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

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

  • Association analysis identifies 65 new breast cancer risk loci

    Kyriaki Michailidou;Kyriaki Michailidou;Sara Lindström;Sara Lindström;Joe Dennis;Jonathan Beesley

  • Large-scale genotyping identifies 41 new loci associated with breast cancer risk

    Kyriaki Michailidou;Per Hall;Anna Gonzalez-Neira;Maya Ghoussaini

  • RAD51B in Familial Breast Cancer

    Liisa M. Pelttari;Sofia Khan;Mikko Vuorela;Johanna I. Kiiski

  • Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

    Nasim Mavaddat;Kyriaki Michailidou;Kyriaki Michailidou;Joe Dennis;Michael Lush

  • 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

  • Prediction of BRCA1 Status in Patients with Breast Cancer Using Estrogen Receptor and Basal Phenotype

    Sunil R. Lakhani;Jorge S. Reis-Filho;Laura Fulford;Frederique Penault-Llorca

  • 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

  • Association Between BRCA1 and BRCA2 Mutations and Survival in Women with Invasive Epithelial Ovarian Cancer

    Kelly L. Bolton;Kelly L. Bolton;Georgia Chenevix-Trench;Cindy Goh;Siegal Sadetzki

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

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

  • Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

    John R.B. Perry;Felix Day;Cathy E. Elks;Patrick Sulem

  • Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

    Kyriaki Michailidou;Jonathan Beesley;Sara Lindstrom;Sander Canisius

  • 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

  • Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

    Nasim Mavaddat;Paul D.P. Pharoah;Kyriaki Michailidou;Jonathan Tyrer

  • MicroRNA related polymorphisms and breast cancer risk

    Sofia Khan;Dario Greco;Dario Greco;Kyriaki Michailidou;Roger L. Milne;Roger L. Milne

  • DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis

    Manel Esteller;Mario F. Fraga;Mingzhou Guo;Jesus Garcia-Foncillas

  • Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

    Iñaki Comino-Méndez;Francisco J Gracia-Aznárez;Francesca Schiavi;Iñigo Landa

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

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

Frequent Co-Authors

Roger L. Milne
Roger L. Milne Cancer Council Victoria
Graham G. Giles
Graham G. Giles University of Melbourne
Irene L. Andrulis
Irene L. Andrulis University of Toronto
Hiltrud Brauch
Hiltrud Brauch German Cancer Research Center
Douglas F. Easton
Douglas F. Easton University of Cambridge
Georgia Chenevix-Trench
Georgia Chenevix-Trench QIMR Berghofer Medical Research Institute
Fergus J. Couch
Fergus J. Couch Mayo Clinic
Jenny Chang-Claude
Jenny Chang-Claude German Cancer Research Center
Melissa C. Southey
Melissa C. Southey Monash University
Heli Nevanlinna
Heli Nevanlinna University of Helsinki

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