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2009 (v1)PublicationUploaded on: March 31, 2023
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2003 (v1)Publication
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2002 (v1)Publication
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2010 (v1)Publication
Germline CDKN2A mutations are observed in 20-50% of melanoma-prone families. We identified melanoma patients that were heterozygous for non-coding germline variants in the 5′-UTR of CDKN2A (c.-21C > T; c.-25C > T&c.-180G > A; c.-56G > T; c.-67G > C) and examined their impact on the p16INK4a 5′-UTR activity using two luciferase-based reporter...
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2003 (v1)Publication
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2011 (v1)Publication
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2009 (v1)Publication
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2008 (v1)Publication
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2009 (v1)Publication
Amelanotic melanoma (AM) is a rare subtype of melanoma with little or no clinically visible pigment; it is more difficult to diagnose than pigmented melanoma (PM), and has a worse prognosis. In the attempt to find a genetic explanation for the distinction between AM and PM, we conducted a case-case study, matching AM and PM patients, and...
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2006 (v1)Publication
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2009 (v1)Publication
Lynch syndrome is an inherited cancer syndrome caused by germline mutations in mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. LS predisposes to high risk of early-onset colorectal, endometrial and other tumors. Patients with Lynch syndrome have also been shown to have an elevated risk for pancreatic cancer (PC). In this study, we aimed...
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2012 (v1)Publication
Background: Most familial pancreatic cancer (FPC) remains unexplained. The identification of individuals with a high genetic risk of developing pancreatic adenocarcinoma (PC) is important to elucidate its biological basis and is critical to better define emerging strategies for the detection of early pancreatic neoplasms. Patients and methods:...
Uploaded on: April 14, 2023