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Molecular Biology

D-Index
57
Citations
12205
World Ranking
2146
National Ranking
32

Overview

Miguel de la Hoya is affiliated with the Hospital Clínico San Carlos in Spain. Their research primarily spans the field of Biochemistry, Genetics and Molecular Biology, with a focus on Molecular Biology, Genetics, Cancer Research, Oncology, and Pathology and Forensic Medicine. The scientist's work encompasses a range of topics including BRCA gene mutations in cancer, Genomics and Rare Diseases, RNA Research and Splicing, RNA modifications and cancer, Cancer Genomics and Diagnostics, CRISPR and Genetic Engineering, and RNA and protein synthesis mechanisms.

Their recent published papers include:

  • 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
  • Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes, 2020, Nature Genetics
  • Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D, 2020, JNCI Journal of the National Cancer Institute
  • Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants, 2020, Genetics in Medicine
  • Characterization of the Cancer Spectrum in Men With GermlineBRCA1andBRCA2Pathogenic Variants, 2020, JAMA Oncology

Frequent co-authors collaborating with Miguel de la Hoya include:

  • Amanda B. Spurdle
  • Susan M. Domchek
  • Fergus J. Couch
  • Tina Pesaran
  • Christoph Engel

The scientist has contributed publications to several venues, notably:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • The American Journal of Human Genetics
  • Cancers
  • Genetics in Medicine
  • UNC Libraries

Best Publications

  • 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 genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

    Ian P.M. Tomlinson;Emily Webb;Luis Carvajal-Carmona;Peter Broderick

  • 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

  • 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

    Antonis C. Antoniou;Xianshu Wang;Zachary S. Fredericksen;Lesley McGuffog

  • Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

    Fergus J. Couch;Xianshu Wang;Lesley McGuffog;Andrew Lee

  • Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

    Karoline B Kuchenbaecker;Karoline B Kuchenbaecker;Lesley McGuffog;Daniel Barrowdale;Andrew Lee

  • Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

    Timothy R. Rebbeck;Tara M. Friebel;Eitan Friedman;Ute Hamann

  • Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

    Antonis C. Antoniou;Jonathan Beesley;Lesley McGuffog;Olga M. Sinilnikova

  • Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

    Orland Díez;Ana Osorio;Mercedes Durán;José Ignacio Martinez-Ferrandis

  • Prediction of breast and prostate cancer risks in male BRCA1 and BRCA2 mutation carriers using polygenic risk scores

    Julie Lecarpentier;Valentina Silvestri;Karoline B. Kuchenbaecker;Karoline B. Kuchenbaecker;Daniel Barrowdale

  • Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer

    Ana Osorio;Miguel de la Hoya;Raquel Rodríguez-López;Angel Martínez-Ramírez

  • The Average Cumulative Risks of Breast and Ovarian Cancer for Carriers of Mutations in BRCA1 and BRCA2 Attending Genetic Counseling Units in Spain

    Roger L. Milne;Ana Osorio;Teresa Ramón y Cajal;Ana Vega

  • Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

    Alison M. Dunning;Kyriaki Michailidou;Karoline B. Kuchenbaecker;Deborah Thompson

  • Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

    Mia M. Gaudet;Tomas Kirchhoff;Todd Green;Joseph Vijai

  • Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

    Antonis C. Antoniou;Olga M. Sinilnikova;Lesley McGuffog;Sue Healey

  • Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families

    María J. García;Victoria Fernández;Ana Osorio;Alicia Barroso

  • Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.

    Francisco Javier Gracia-Aznarez;Victoria Fernandez;Guillermo Pita;Paolo Peterlongo

  • Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

    Fergus J. Couch;Karoline B. Kuchenbaecker;Kyriaki Michailidou;Gustavo A. Mendoza-Fandino

  • Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

    Xin Yang;Honglin Song;Goska Leslie;Christoph Engel

Frequent Co-Authors

Javier Benitez
Javier Benitez Instituto de Salud Carlos III
Irene L. Andrulis
Irene L. Andrulis University of Toronto
Paolo Radice
Paolo Radice Fondazione IRCCS Istituto Nazionale dei Tumori
Conxi Lázaro
Conxi Lázaro Institut d'Investigació Biomédica de Bellvitge
Melissa C. Southey
Melissa C. Southey Monash University
Douglas F. Easton
Douglas F. Easton University of Cambridge
Fergus J. Couch
Fergus J. Couch Mayo Clinic
Antonis C. Antoniou
Antonis C. Antoniou University of Cambridge
Amanda B. Spurdle
Amanda B. Spurdle QIMR Berghofer Medical Research Institute

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