- Ana Osorio
- Alicia Barroso
- 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.
- (2020). Comment On: Clinicopathological Features and Oncological Outcomes of Patients With Young-Onset Rectal Cancer. Brit J Surg (in press). 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.
- (2015). Deletion At 6Q24.2-26 Predicts Longer Survival Of High-Grade Serous Epithelial Ovarian Cancer Patients.. Mol Oncol 9, 422-436. CNIO Publication.
- (2015). DNA copy number profiling reveals different patterns of chromosomal instability within colorectal cancer according to the age of onset.. Mol Carcinogen (in press). CNIO Publication.
- (2015). Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X.. J Gastroenterol 50, 657-666. CNIO Publication.
- (2015). Classifying early-onset colorectal cancer according to tumor location: new potential subcategories to explore.. Am J Cancer Res 5, 2308-2313. CNIO Publication.
- (2015). Impaired DNA repair capacity and gene expression indicate haploinsufficiency in healthy heterozygous BRCA1 mutation carriers.. Breast Cancer Res Treat 152, 271-282. CNIO Publication.
- (2015). Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.. Gastroenterology 149, 563-566. CNIO Publication.
- (2015). POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.. Genet Med 18, 325-342. CNIO Publication.
- (2015). Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor.. PLoS ONE 10, e0136812. CNIO Publication.
- (2015). A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families. Nat Commun 6, 8383. CNIO Publication. Open Access
- (2015). Impact of chemotherapy on telomere length in sporadic and familial breast cancer patients.. Breast Cancer Res Treat 149, 385-394. CNIO Publication.
- (2015). Whole-Exome Sequencing Identifies MDH2 as a New Familial Paraganglioma Gene.. J Natl Cancer I 107, djv053. CNIO Publication.