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10.1155/2017/2595098 http://scihub22266oqcxt.onion/10.1155/2017/2595098 C5303590!5303590!28250766     free     free     free Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Gastroenterol+Res+Pract 2017 ; 2017 (ä): ä Nephropedia Template TP {{tp|p=28250766|t=2017. Novel Implications in Molecular Diagnosis of Lynch Syndrome |pdf=|usr=}}{{28250766}} gab.com Text Novel Implications in Molecular Diagnosis of Lynch Syndrome JO: Gastroenterol Res Pract http://www.kidney.de/pget.php?&tw=1&pmid=28250766 #FOAvip About 10% of total colorectal cancers are associated with known Mendelian inheritance, as Familial Adenomatous Polyposis (FAP) and Lynch syndrome (LS). In these cancer types the clinical manifestations of disease are due to mutations in high-risk alleles, with a penetrance at least of 70%. The LS is associated with germline mutations in the DNA mismatch repair (MMR) genes. However, the mutation detection analysis of these genes does not always provide informative results for genetic counseling of LS patients. Very often, the molecular analysis reveals the presence of variants of unknown significance (VUSs) whose interpretation is not easy and requires the combination of different analytical strategies to get a proper assessment of their pathogenicity. In some cases, these VUSs may make a more substantial overall contribution to cancer risk than the well-assessed severe Mendelian variants. Moreover, it could also be possible that the simultaneous presence of these genetic variants in several MMR genes that behave as low risk alleles might contribute in a cooperative manner to increase the risk of hereditary cancer. In this paper, through a review of the recent literature, we have speculated a novel inheritance model in the Lynch syndrome; this could pave the way toward new diagnostic perspectives. Twit Text FOAVip Novel Implications in Molecular Diagnosis of Lynch Syndrome ????Gastroenterol Res Pract http://www.kidney.de/pget.php?&tw=1&pmid=28250766 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28250766 #FOAvip English Wikipedia <ref>{{Cite pmid|28250766}}</ref> Novel Implications in Molecular Diagnosis of Lynch Syndrome #MMPMID28250766 Liccardo R; De Rosa M; Izzo P; Duraturo F Gastroenterol Res Pract 2017[]; 2017 (ä): ä PMID28250766show ga About 10% of total colorectal cancers are associated with known Mendelian inheritance, as Familial Adenomatous Polyposis (FAP) and Lynch syndrome (LS). In these cancer types the clinical manifestations of disease are due to mutations in high-risk alleles, with a penetrance at least of 70%. The LS is associated with germline mutations in the DNA mismatch repair (MMR) genes. However, the mutation detection analysis of these genes does not always provide informative results for genetic counseling of LS patients. Very often, the molecular analysis reveals the presence of variants of unknown significance (VUSs) whose interpretation is not easy and requires the combination of different analytical strategies to get a proper assessment of their pathogenicity. In some cases, these VUSs may make a more substantial overall contribution to cancer risk than the well-assessed severe Mendelian variants. Moreover, it could also be possible that the simultaneous presence of these genetic variants in several MMR genes that behave as low risk alleles might contribute in a cooperative manner to increase the risk of hereditary cancer. In this paper, through a review of the recent literature, we have speculated a novel inheritance model in the Lynch syndrome; this could pave the way toward new diagnostic perspectives. äNovel Implications in Molecular Diagnosis of Lynch Syndrome (epmc).pdf DeepDyve Pubget Overpricing