Encarna Gómez García, MD, PhD has been working as a medical specialist since 1991. Her clinical interests include the diagnosis, prevention and genetic counseling for hereditary tumor syndromes.
Her research interests revolve particularly around the discovery and classification of genetic mutations predisposing to haematological disorders and familial cancers. She has been contributing to the field of hereditary syndromes since 1994 and she is an author on 106 scientific publications, with an average impact factor of 6,70. Her work is directly translatable to the patient. Her interests in the genetic counselling has directed her efforts towards the unclassified genetic variants (UVs), particularly in determining whether families with a UV in the BRCA1/2 genes have different clinical features than those with a known mutation. This has lead to the classification of a number of UVs found in the Dutch population using an easy-to-apply scoring system based on the cancer history of families, with important implications for cancer-prevention and screening strategies.
She also coordinates projects to determine the influence of modifier genes on the phenotypes of hereditary cancer syndromes, including breast/ovarian cancer and Lynch syndrome. She is also conducting research aimed at understanding the biology underlying developmental abnormalities associated with hereditary cancer syndromes, using a systems biology (phenomics) approach. This has involved the demonstration of the role of ciliopathies in hereditary cancer - in particular FAP, published in 2009 in Lancet Oncology.
Brandão RD, van Roozendaal K, Tserpelis D, Gómez García E, Blok MJ. Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing. Breast Cancer Res Treat. 2011, 129:971-82.
van Harssel JJT, van Roozendaal CEP, Detisch Y, Brandao RD, Paulussen ADC, Zeegers M, Blok MJ, Gómez García EB. Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection. Fam. Cancer, 2010; 9:193-201.
Gómez García EB, Knoers VAM: Gardner’s syndrome (familial adenomatous polyposis): a cilia-related disorder. Lancet Oncol, 2009; 10:727-735.
Gómez García EB, Oosterwijk JC, Timmermans M, van Asperen CJ, Hogervorst FBL, Hoogerbrugge N, et al. A method to assess the clinical significance of unclassified variants (UVs) in the BRCA1 and BRCA2 genes based on cancer family history. Breast Cancer Res, 2009; 11:1-12.
Gómez García EB, Ambergen T, Blok MJ, van den Wijngaard A. Patients with an unclassified genetic variant in the BRCA1 or BRCA2 genes show different clinical features from those with a mutation. J. Clin.Oncol. 2005; 23:2185-90.