- Ana Osorio
- Erik Michel Marchena
- Alicia Barroso
- Victoria Fernández
- Verónica García
- Fátima Mercadillo
The SARS-CoV2 pandemic created an unprecedented situation affecting all human activities and it forced alliances between healthcare workers, academics, scientists, and administrative and government entities around the world, to accelerate our knowledge about the disease and the search for efficient treatments and immunisation. COVID-19 exhibits great clinical and, possibly, populational heterogeneity, in which our genes probably play an important role.
In April 2020, our Unit, together with the Genotyping Unit, set out to identify prognostic markers that could help to stratify the population and allow us to identify a priori those subjects who will have a more severe course of Covid-19. Understanding this would enable us to focus preventive resources on them and prioritise future immunisation. Since the beginning of the pandemic, various national and international projects and initiatives have been launched with similar objectives. The COVID-19 Host Genetics Initiative (https://www.covid19hg.org/) is an international consortium that integrates more than 150 participants. Together with other groups from Spain, we are participating in exploring the role of host genetic factors in the severity of the disease. At the national level, the ScourGe consortium was created, made up of more than 70 clinical, research and biobank groups. We are currently analysing the genome of more than 10,000 individuals with different clinical forms of Covid-19.
The goal is to ultimately gather genomic data from many thousands of individuals from different populations to try to identify clinically relevant markers in a disease like Covid-19, whose genetic bases will be difficult to unravel.
- (2021). Cross-Cancer Genome-Wide Association Study of Endometrial Cancer and Epithelial Ovarian Cancer Identifies Genetic Risk Regions Associated with Risk of Both Cancers. Cancer Epidem Biomar 30, 217-228. CNIO Publication.
- (2021). A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients. Clin Chem (in press). CNIO Publication.
- (2021). Germline CDH1 G212E Missense Variant: Combining Clinical, In Vitro and In Vivo Strategies to Unravel Disease Burden. Cancers 13, 4359. CNIO Publication.
- (2021). Copy neutral loss of heterozygosity (cnLOH) patterns in synchronous colorectal cancer. Eur J Hum Genet 29, 709-713. CNIO Publication.
- (2020). Comment On: Clinicopathological Features and Oncological Outcomes of Patients With Young-Onset Rectal Cancer. Brit J Surg 107, e277. CNIO Publication. Open Access
- (2020). Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D. J Natl Cancer I 112, 1242-1250. CNIO Publication.
- (2020). Investigation on the Role of PALB2 Gene in CDH1-Negative PatientsWith Hereditary Diffuse Gastric Cancer. Clin Transl Gastroenterol 11, e00280. CNIO Publication.
- (2019). POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas. J. Am. Heart Assoc. 8, e012875. CNIO Publication. Open Access
- (2019). Cimp-Positive Status is More Representative in Multiple Colorectal Cancers than in Unique Primary Colorectal Cancers.. Sci Rep 9, 10516. CNIO Publication. Open Access
- (2019). . Int J Mol Sci 20, PII:E968.. CNIO Publication. Open Access
- (2019). Intermediate-onset colorectal cancer: A clinical and familial boundary between both early and late-onset colorectal cancer. PLoS One 14, e0216472. CNIO Publication. Open Access
- (2019). Redefining synchronous colorectal cancers based on tumor clonality. Int J Cancer 144, 1596-1608. CNIO Publication.
- (2019). Association of polyps with early-onset colorectal cancer and throughout surveillance: novel clinical and molecular implications.. Cancers 11, pii: E1900. CNIO Publication.
- (2018). Association between germline mutations in BRF1, a subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer. Gastroenterology 154, 181-194. CNIO Publication.
- (2018). Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis. Mol Can 17, 23. CNIO Publication. Open Access
- (2018). Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome. Brit J Dermatol 178, 198-206. CNIO Publication.
- (2018). Comment on ‘Distinct clinical outcomes of two CIMP-positive colorectal cancer subtypes based on a revised CIMP classification system’. Br J Cancer 118, E3. CNIO Publication.
- (2018). Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis. Hum Mutat 39, 1214-1225. CNIO Publication.
- (2018). Differential clinicopathological and molecular features within late-onset colorectal cancer according to tumor location. Oncotarget 9, 15302-15311. CNIO Publication. Open Access
- (2018). Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer. Eur J Hum Genet 26, 1348-1353. CNIO Publication.
- (2018). Whole Exome Sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer. Int J Cancer 143, 1954-1962. CNIO Publication.
- (2017). Genetic variation in the NEIL2 DNA glycosylase gene is associated with oxidative DNA damage in BRCA2 mutation carriers. Oncotarget 8, 114626-114636. CNIO Publication. Open Access
- (2017). NOMO-1 gene is deleted in early-onset colorectal cancer. Oncotarget 8, 24429-24436. CNIO Publication.
- (2017). Toward a Molecular Classification of Synchronous Colorectal Cancer: Clinical and Molecular Characterization.. Clin Colorectal Cancer 16, 31-37. CNIO Publication.
- (2017). Frequency and impact of KRAS mutation in early onset colorectal cancer.. Hum Pathol 61, 221-222. CNIO Publication.
- (2017). Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.. Br J Cancer 117, 1048-1062. CNIO Publication.
- (2017). The wide spectrum of POT1 gene variants correlates with multiple cancer types.. Eur J Hum Genet 25, 1278-1281. CNIO Publication.
- (2017). Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.. Breast Cancer Res Treat 161, 117-134. CNIO Publication.
- (2016). Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer.. J Natl Cancer I 108, djv308. CNIO Publication.
- (2016). Comment on ‘Wild-type APC prediction of poor prognosis in microsatellite-stable proximal colorectal cancer differs according to the age of onset’.. Br J Cancer 114, e7. CNIO Publication.
- (2016). Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis. Sci Rep 6, 20697. CNIO Publication. Open Access
- (2016). Unsupervised Analysis of Array Comparative Genomic Hybridization Data from Early-Onset Colorectal Cancer Reveals Equivalence with Molecular Classification and Phenotypes.. Neoplasia 19, 28-34. CNIO Publication.
- (2016). Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers. Oncotarget 7, 25815-25825. CNIO Publication. Open Access
- (2016). Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor Olaparib by a dominant negative effect.. Hum Mol Genet 25, 5287-5299. CNIO Publication.