- Laura Pena
- Fátima Mercadillo
Approximately 1 to 2% of the U.S. population harbours a genetic mutation in well-known genes that confer predisposition to cancer. Carriers of such genetic mutations could benefit from established preventive strategies. For example, more than half a million individuals in the U.S. harbour a pathogenic mutation in a Lynch syndrome gene that confers a high risk of colorectal cancer, a tumour readily preventable through annual colonoscopy. Like Lynch syndrome-related genes, there exist a few dozen of such cancer predisposition genes that could be candidates for carefully focused targeted sequencing, including those responsible for hereditary breast and ovarian cancer syndrome, familial adenomatous polyposis, and hereditary endocrinopathies. Identifying the individuals who have a high risk of developing cancer over time and implementing prevention or early intervention strategies could improve population healt.
Advances in genetic and genomic tools are transforming medical practice and are contributing to the elucidation of the genetic basis of cancer predisposition. It is now easier to identify individuals with a moderate to high risk of developing cancer. However, the use of these new genetic technologies in a clinical setting requires the expertise of genetically educated professionals. The FCCU is committed to spreading the role of genetics in medicine; it takes part in educational initiatives that aid the implementation of genetic and genomic technologies in the clinical setting.
- Redefining synchronous colorectal cancers based on tumor clonality.(2019)
Int J Cancer 144, 1596-1608.
- Whole Exome Sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer.(2018)
Int J Cancer 143, 1954-1962.
- Association between germline mutations in BRF1, a subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.(2018)
Gastroenterology 154, 181-194.
- Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis.(2018)
Mol Can 17, 23-.
- Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome.(2018)
Brit J Dermatol 178, 198-206.
- Comment on ‘Distinct clinical outcomes of two CIMP-positive colorectal cancer subtypes based on a revised CIMP classification system’.(2018)
Br J Cancer 118, E3-.
- Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis.(2018)
Hum Mutat 39, 1214-1225.
- Differential clinicopathological and molecular features within late-onset colorectal cancer according to tumor location.(2018)
Oncotarget 9, 15302-15311.
- Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer.(2018)
Eur J Hum Genet 26, 1348-1353.
- Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.(2017)
Br J Cancer 117, 1048-1062.
- The wide spectrum of POT1 gene variants correlates with multiple cancer types.(2017)
Eur J Hum Genet 25, 1278-1281.
- Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.(2017)
Breast Cancer Res Treat 161, 117-134.
- Genetic variation in the NEIL2 DNA glycosylase gene is associated with oxidative DNA damage in BRCA2 mutation carriers.(2017)
Oncotarget 8, 114626-114636.
- NOMO-1 gene is deleted in early-onset colorectal cancer.(2017)
Oncotarget 8, 24429-24436.
- Toward a Molecular Classification of Synchronous Colorectal Cancer: Clinical and Molecular Characterization.(2017)
Clin Colorectal Cancer 16, 31-37.
- Frequency and impact of KRAS mutation in early onset colorectal cancer.(2017)
Hum Pathol 61, 221-222.
- Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers.(2016)
Oncotarget 7, 25815-25825.
- 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.(2016)
Hum Mol Genet 25, 5287-5299.
- Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer.(2016)
J Natl Cancer I 108, djv308-.
- Comment on ‘Wild-type APC prediction of poor prognosis in microsatellite-stable proximal colorectal cancer differs according to the age of onset’.(2016)
Br J Cancer 114, e7-.
- Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis.(2016)
Sci Rep 6, 20697-.
- Unsupervised Analysis of Array Comparative Genomic Hybridization Data from Early-Onset Colorectal Cancer Reveals Equivalence with Molecular Classification and Phenotypes.(2016)
Neoplasia 19, 28-34.
- A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.(2015)
Nat Communications 6, 8383-.
- Impact of chemotherapy on telomere length in sporadic and familial breast cancer patients.(2015)
Breast Cancer Res Treat 149, 385-394.
- Deletion At 6Q24.2-26 Predicts Longer Survival Of High-Grade Serous Epithelial Ovarian Cancer Patients.(2015)
Mol Oncol 9, 422-436.
- DNA copy number profiling reveals different patterns of chromosomal instability within colorectal cancer according to the age of onset.(2015)
Mol Carcinogen (in press).
- Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X.(2015)
J Gastroenterol 50, 657-666.
- Classifying early-onset colorectal cancer according to tumor location: new potential subcategories to explore.(2015)
Am J Cancer Res 5, 2308-2313.
- Impaired DNA repair capacity and gene expression indicate haploinsufficiency in healthy heterozygous BRCA1 mutation carriers.(2015)
Breast Cancer Res Treat 152, 271-282.
- Whole-Exome Sequencing Identifies MDH2 as a New Familial Paraganglioma Gene.(2015)
J Natl Cancer I 107, djv053-.
- Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.(2015)
Gastroenterology 149, 563-566.
- 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.(2015)
Genet Med 18, 325-342.
- Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor.(2015)
PLoS ONE 10, e0136812-.
- Age at Onset Should Be a Major Criterion for Subclassification of Colorectal Cancer.(2014)
J Mol Diagn 16, 116-126.
- A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia.(2014)
Eur J Hum Genet 22, 423-426.
- DNA copy number profiling reveals extensive genomic loss in hereditary BRCA1 and BRCA2 ovarian carcinomas.(2013)
Br J Cancer 108, 1732-1742.