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| 1 | New genes emerging for colorectal cancer predisposition显示文摘Colorectal cancer(CRC)is one of the most frequent neoplasms and an important cause of mortality in the developed world.This cancer is caused by both genetic and environmental factors although 35%of the variation in CRC susceptibility involves inherited genetic differences.Mendelian syndromes account for about5%of the total burden of CRC,with Lynch syndrome and familial adenomatous polyposis the most common forms.Excluding hereditary forms,there is an important fraction of CRC cases that present familial aggregation for the disease with an unknown germline genetic cause.CRC can be also considered as a complex disease taking into account the common diseasecommom variant hypothesis with a polygenic model of inheritance where the genetic components of common complex diseases correspond mostly to variants of low/moderate effect.So far,30 common,low-penetrance susceptibility variants have been identified for CRC.Recently,new sequencing technologies including exomeand whole-genome sequencing have permitted to add a new approach to facilitate the identification of new genes responsible for human disease predisposition.By using whole-genome sequencing,germline mutations in the POLE and POLD1 genes have been found to be responsible for a new form of CRC genetic predisposition called polymerase proofreading-associated polyposis. | Clara Esteban-Jurado Pilar Garre Maria Vila Juan José Lozano Anna Pristoupilova Sergi Beltrán Anna Abulí Jenifer Muoz Francesc Balaguer Teresa Ocaa Antoni Castells Josep M Piqué Angel Carracedo Clara Ruiz-Ponte Xavier Bessa Montserrat Andreu Luis Bujanda Trinidad Caldés Sergi Castellví-Bel | 2014 | World Journal of Gastroenterology2014，20，8： | 3 |
| 2 | Induction of pRb degradation by the human papillomavirus type 16 E7 protein is essential to overcome p16INK4A imposed G1 cell cycle arrest显示文摘 | Giarre M Calde S Malanchi I | 2001 | J Virol2001，75，10： | 1 |
| 3 | The CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC Spanish families显示文摘 | Ana Sánchez de Abajo Miguel de la Hoya Javier Godino Vicente Furió Alicia Tosar Pedro Pérez-Segura Eduardo Díaz-Rubio Trinidad Caldés | 2005 | Familial Cancer2005，，2： | 1 |
| 4 | Economic impact of solar thermal electricity deployment in Spain显示文摘 | N Caldés M Varela M Santamaría | 2009 | Energy Policy2009，37，5： | 1 |
| 5 | 显示文摘 | Haskouri J E Cabrera S Caldes M | 2001 | International Journal of Inorganic Materials2001，3，8： | 1 |
| 6 | Retroperitoneal hematoma in a peritoneal dialysis patient on oral anticoagulant treatment显示文摘 | Caldes S Rivera M Merino JL | 2010 | Perit Dial Int2010，30，5： | 1 |
| 7 | Influence of KRAS p.G13D Mutation in Patients With Metastatic Colorectal Cancer Treated With Cetuximab显示文摘 | Pablo Gajate Javier Sastre Inmaculada Bando Teresa Alonso Lourdes Cillero Julian Sanz Trinidad Caldés Eduardo Díaz-Rubio | 2012 | Clinical Colorectal Cancer2012，，4： | 1 |
| 8 | Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain显示文摘AIM: To investigate the prevalence and penetrance of hMSH6 mutations in Spanish HNPCC families that was negative for mutation in hMLH1 or hMSH2.METHODS: We used PCR-based DGGE assay and direct Sequencing to screen for hMSH6 gene in 91 HNPCC families.RESULTS: we have identified 10 families with germ-line mutations in the DNA sequence. These mutations included two intronic variation, three missense mutation, one nonsense mutation, and four silent mutations. Among the 10 germ-line mutations identified in the Spanish cohort,8 were novel, perhaps, suggesting different mutational spectra in the Spanish population. Detailed pedigrees were constructed for the three families with a possible pathogenic hMSH6 mutation. The two silent mutations H388H and L758L, detected in a person affected of colorectal cancer at age 29, produce loss of the wild-type allele in the tumor sample. Immunohistochemical analysis showed that expression of MSH6 protein was lost only in the tumors from the carriers of V878A and Q263X mutations.CONCLUSION: Altogether, our results indicate that disease-causing germ-line mutations of hMSH6 are very less frequent in Spanish HNPCC families. | Ana Sánchez de Abajo Miguel de la Hoya Alicia Tosar Javier Godino Juan Manuel Fernández Jose Lopez Asenjo Beatriz Perez Villamil Pedro Perez Segura Eduardo Diaz-Rubio Trinidad Caldes | 2005 | World Journal of Gastroenterology2005，11，37： | 1 |
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