E. Gómez

Research interests

Publications

• Cancer Risks for PMS2 -Associated Lynch Syndrome

  Journal of Clinical Oncology · 2018 · 10.1200/jco.2018.78.4777

• Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers

  European Journal of Human Genetics · 2015 · https://doi.org/10.1038/ejhg.2015.252

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

  Annals of Oncology · 2015 · 10.1093/annonc/mdv278

• Breast Cancer Risk After Salpingo-Oophorectomy in Healthy BRCA1/2 Mutation Carriers: Revisiting the Evidence for Risk Reduction

  JNCI Journal of the National Cancer Institute · 2015 · 10.1093/jnci/djv033

• Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk

  Journal of Clinical Oncology · 2014 · 10.1200/jco.2014.57.8088

• Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

  PLoS Genetics · 2013 · https://doi.org/10.1371/journal.pgen.1003212

• Cancer risk and genotype–phenotype correlations in PTEN hamartoma tumor syndrome

  Familial Cancer · 2013 · 10.1007/s10689-013-9674-3

• MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

  Clinical Cancer Research · 2012 · https://doi.org/10.1158/1078-0432.ccr-12-0160

• Risks of Less Common Cancers in Proven Mutation Carriers With Lynch Syndrome

  Journal of Clinical Oncology · 2012 · 10.1200/jco.2012.43.2278

• Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

  Human Mutation · 2011 · 10.1002/humu.22016

• Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

  Breast Cancer Research · 2011 · https://doi.org/10.1186/bcr3052

• TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

  Journal of Medical Genetics · 2010 · 10.1136/jmg.2009.073429

• Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

  The Lancet Oncology · 2010 · https://doi.org/10.1016/s1470-2045(10)70265-5

• 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

  Nature Genetics · 2010 · https://doi.org/10.1038/ng.669

• Genetic Testing in Li-Fraumeni Syndrome: Uptake and Psychosocial Consequences

  Journal of Clinical Oncology · 2010 · https://doi.org/10.1200/jco.2009.27.2112

• Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers

  JNCI Journal of the National Cancer Institute · 2009 · https://doi.org/10.1093/jnci/djp473

• In Vivo Diagnosis and Classification of Colorectal Neoplasia by Chromoendoscopy-Guided Confocal Laser Endomicroscopy

  Clinical Gastroenterology and Hepatology · 2009 · 10.1016/j.cgh.2009.08.006

• Diagnosis of Cytomegalovirus Infections

  ˜The œNephron journals/Nephron journals · 2008 · https://doi.org/10.1159/000186231

• Heterozygous Mutations in PMS2 Cause Hereditary Nonpolyposis Colorectal Carcinoma (Lynch Syndrome)

  Gastroenterology · 2006 · 10.1053/j.gastro.2005.10.052

• High von Willebrand Factor Levels Increase the Risk of First Ischemic Stroke

  Stroke · 2006 · 10.1161/01.str.0000244767.39962.f7

• Cancer risks in BRCA2 families: estimates for sites other than breast and ovary

  Journal of Medical Genetics · 2005 · 10.1136/jmg.2004.028829

• Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)

  Journal of Medical Genetics · 2005 · 10.1136/jmg.2005.033217

• Soil bacterial functional diversity as influenced by organic amendment application

  Bioresource Technology · 2005 · 10.1016/j.biortech.2005.06.021

• Reproducibility in the response of soil bacterial community-level physiological profiles from a land use intensification gradient

  Applied Soil Ecology · 2003 · https://doi.org/10.1016/j.apsoil.2003.10.007

• A novel, possibly functional, single nucleotide polymorphism in the coding region of the thrombin-activatable fibrinolysis inhibitor (TAFI) gene is also associated with TAFI levels

  Blood · 2001 · 10.1182/blood.v98.6.1992

• Morphological integrity of the bronchial epithelium in mild asthma.

  Thorax · 1990 · https://doi.org/10.1136/thx.45.1.12

Current projects

No projects listed.