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| 1 | Genetic predisposition to pancreatic cancer显示文摘Pancreatic adenocarcinoma(PC) is the most deadly of the common cancers. Owing to its rapid progression and almost certain fatal outcome, identifying individuals at risk and detecting early lesions are crucial to improve outcome. Genetic risk factors are believed to play a major role. Approximately 10% of PC is estimated to have familial inheritance. Several germline mutations have been found to be involved in hereditary forms of PC, including both familial PC(FPC) and PC as one of the manifestations of a hereditary cancer syndrome or other hereditary conditions. Although most of the susceptibility genes for FPC have yet to be identified, next-generation sequencing studies are likely to provide important insights. The risk of PC in FPC is sufficiently high to recommend screening of high-risk individuals; thus, defining such individuals appropriately is the key. Candidate genes have been described and patients considered for screening programs under research protocols should first be tested for presence of germline mutations in the BRCA2, PALB2 and ATM genes. In specific PC populations, including in Italy, hereditary cancer predisposition genes such as CDKN2 A also explain a considerable fraction of FPC. | Paola Ghiorzo | 2014 | World Journal of Gastroenterology2014，20，31： | 2 |
| 2 | Anti-inflammatory effects of leflunomide on cultured synovial macrophages from patients with rheumatoid arthritis显示文摘 | Cutolo M Sulli A Ghiorzo P | | 0，，： | 1 |
| 3 | Inverse correlation between p16INK4A expression and NF-κ B activation in melanoma progression显示文摘 | Ghiorzo P Mantelli M Gargiulo S | 2004 | Hum Pathol2004，35，： | 1 |
| 4 | Inverse correlation between p16INK4A expression and NF- kappaB activation in melanoma progression显示文摘 | GHIORZO P MANTELLI M GARGIULO S | 2004 | Hum Pathol2004，35，8： | 1 |
| 5 | MC 1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN 2A positive and negative melanoma patients显示文摘 | Paola Ghiorzo Luigina Bonelli Lorenza Pastorino William Bruno Monica Barile Virginia Andreotti Sabina Nasti Linda Battistuzzi Marco Grosso Giovanna Bianchi‐Scarrà Paola Queirolo | 2012 | Exp Dermatol2012，，9： | 1 |
| 6 | Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy显示文摘 | P. Ghiorzo V. Pensotti G. Fornarini S. Sciallero L. Battistuzzi F. Belli L. Bonelli G. Borgonovo W. Bruno A. Gozza S. Gargiulo L. Mastracci S. Nasti G. Palmieri F. Papadia L. Pastorino A. Russo V. Savarino L. Varesco L. Bernard G. Bianchi Scarrà | 2012 | Familial Cancer2012，，1： | 1 |
| 7 | Overcoming resistance to BRAF inhibition in BRAF-mutated metastatic melanoma 显示文摘 | Spagnolo F Ghiorzo P Queirolo P | 2014 | Oncotarget2014，5，10： | 1 |
| 8 | Expression and Localiza-tion of Mutant pl6 Proteins in Melanocytic Lesions From FamilialMelanoma Patients显示文摘 | Ghiorzo P Villaggio B Sementa AR | 2004 | Hum Pathol2004，35，1： | 1 |
| 9 | Anti-inflammatory effects of leflunomide on cultured synovial macrophages from patients with rheumatoid arthritis显示文摘 | Cutolo M Sull Ai Ghiorzo P | 2003 | Ann Rheum Dis2003，62，4： | 1 |
| 10 | Signs and genetics of rare cancer syndromes with gastroenterological features显示文摘Although the genetic bases of most hereditary cancer syndromes are known,and genetic tests are available for them,the incidence of the most rare of these syndromes is likely underestimated,partially because the clinical expression is neither fully understood nor easily diagnosed due to the variable and complex expressivity. The clinical features of a small pool of rare cancer syndromes include gastroenterological signs,though not necessarily tumors,that could require the intervention of a gastroenterologist during any of the phases of the clinical management. Herein we will attempt to spread the knowledge on these rare syndromes by summarizing the phenotype and genetic basis,and revising the peculiar gastroenterological signs whose underlying role in these rare hereditary cancer syndromes is often neglected. Close collaboration between geneticists and gastroenterologists could facilitate both the early identification of patients or relatives at-risk and the planning of multidisciplinary and tailored management of these subjects. | William Bruno Giuseppe Fornarini Paola Ghiorzo | 2015 | World Journal of Gastroenterology2015，21，30： | 0 |
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