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Investigadores
- Ana Osorio
Técnicos de Laboratorio
- Alicia Barroso
- Victoria Fernández
- Verónica García
- Fátima Mercadillo
CRC is the third most frequent type of cancer and the third cause of cancer-related deaths in most developed countries. Age is the main risk factor. The median age at diagnosis is 68 years in men and 72 in women. Since the mid-2000’s, CRC global incidence and mortality in the USA and Europe have been decreasing at an annual rate of 2-3% for both sexes. This decrease is probably related to the extended use of the faecal occult blood test and colonoscopy, which facilitates the removal of precursor lesions, and to the increased awareness among the general population of the preventive and risk factors.
Recent epidemiological studies indicate that CRC incidence in people under 50 is increasing, which is the opposite situation for individuals over 50 years of age. The greater increase was observed in the age range of 40 to 49 years, in which the incidence changed from 18.2 cases population in 1992, to a rate of 26.5 per 100,000 in 2015. This caught the attention of researchers and the general media. Several causal hypotheses were contemplated − new exogenous factors, epigenetic modifications, low-penetrance gene variants and their interactions − and there is a proposal to launch a research agenda to advance knowledge about the aetiological factors and diagnostic methods of early-onset CRC (EOCRC). Since 2010 the Familial Cancer Clinical Unit (FCCU), together with the Surgery Department of the Fundación Jiménez Díaz University Hospital and the Institute for Biomedical Research of Salamanca, has been committed to investigating EOCRC. The aim is to: (i) accelerate research to address unanswered questions about the causes of the increase in EOCRC; and (ii) increase the adoption of evidenced-based practices to identify and manage younger adults at risk for CRC and to facilitate early diagnosis.
Publicaciones
- (2021). A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients. Clin Chem (in press). Publicación CNIO.
- (2020). Comment On: Clinicopathological Features and Oncological Outcomes of Patients With Young-Onset Rectal Cancer. Brit J Surg 107, e277. Publicación CNIO.
Open Access
- (2020). Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D. J Natl Cancer I 112, 1242-1250. Publicación CNIO.
- (2020). Investigation on the Role of PALB2 Gene in CDH1-Negative PatientsWith Hereditary Diffuse Gastric Cancer. Clin Transl Gastroenterol 11, e00280. Publicación CNIO.
- (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. Publicación CNIO.
Open Access
- (2019). Cimp-Positive Status is More Representative in Multiple Colorectal Cancers than in Unique Primary Colorectal Cancers.. Sci Rep 9, 10516. Publicación CNIO.
Open Access
- (2019). . Int J Mol Sci 20, PII:E968.. Publicación CNIO.
Open Access
- (2019). Intermediate-onset colorectal cancer: A clinical and familial boundary between both early and late-onset colorectal cancer. PLoS One 14, e0216472. Publicación CNIO.
Open Access
- (2019). Redefining synchronous colorectal cancers based on tumor clonality. Int J Cancer 144, 1596-1608. Publicación CNIO.
- (2019). Association of polyps with early-onset colorectal cancer and throughout surveillance: novel clinical and molecular implications.. Cancers 11, pii: E1900. Publicación CNIO.
- (2018). Association between germline mutations in BRF1, a subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer. Gastroenterology 154, 181-194. Publicación CNIO.
- (2018). Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis. Mol Can 17, 23. Publicación CNIO.
Open Access
- (2018). Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome. Brit J Dermatol 178, 198-206. Publicación CNIO.
- (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. Publicación CNIO.
- (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. Publicación CNIO.
- (2018). Differential clinicopathological and molecular features within late-onset colorectal cancer according to tumor location. Oncotarget 9, 15302-15311. Publicación CNIO.
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. Publicación CNIO.
- (2018). Whole Exome Sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer. Int J Cancer 143, 1954-1962. Publicación CNIO.
- (2017). Genetic variation in the NEIL2 DNA glycosylase gene is associated with oxidative DNA damage in BRCA2 mutation carriers. Oncotarget 8, 114626-114636. Publicación CNIO.
Open Access
- (2017). NOMO-1 gene is deleted in early-onset colorectal cancer. Oncotarget 8, 24429-24436. Publicación CNIO.
- (2017). Toward a Molecular Classification of Synchronous Colorectal Cancer: Clinical and Molecular Characterization.. Clin Colorectal Cancer 16, 31-37. Publicación CNIO.
- (2017). Frequency and impact of KRAS mutation in early onset colorectal cancer.. Hum Pathol 61, 221-222. Publicación CNIO.
- (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. Publicación CNIO.
- (2017). The wide spectrum of POT1 gene variants correlates with multiple cancer types.. Eur J Hum Genet 25, 1278-1281. Publicación CNIO.
- (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. Publicación CNIO.
- (2016). Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer.. J Natl Cancer I 108, djv308. Publicación CNIO.
- (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. Publicación CNIO.
- (2016). Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis. Sci Rep 6, 20697. Publicación CNIO.
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. Publicación CNIO.
- (2016). Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers. Oncotarget 7, 25815-25825. Publicación CNIO.
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. Publicación CNIO.