2013
DOI: 10.1371/journal.pone.0081194
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Integrative Analysis of Hereditary Nonpolyposis Colorectal Cancer: the Contribution of Allele-Specific Expression and Other Assays to Diagnostic Algorithms

Abstract: The identification of germline variants predisposing to hereditary nonpolyposis colorectal cancer (HNPCC) is crucial for clinical management of carriers, but several probands remain negative for such variants or bear variants of uncertain significance (VUS). Here we describe the results of integrative molecular analyses in 132 HNPCC patients providing evidences for improved genetic testing of HNPCC with traditional or next generation methods. Patients were screened for: germline allele-specific expression (ASE… Show more

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Cited by 9 publications
(4 citation statements)
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“… 1 Sheng et al (); 2 Yamada et al (); 3 Scartozzi et al (2002); 4 Capozzi et al (1990); 5 Cravo et al (); 6 Sanchez de Abajo et al (); 7 Ward et al (); 8 Barnetson et al (); 9 Lee et al (); 10 Chao et al (); 11 Nakahara et al (); 12 Furukawa et al (); 13 Chan et al (); 14 Yuen et al (); 15 De Lellis et al (); 16 Pastrello et al (); 17 Thompson et al (); 18 Dieumegard et al (); 19 Drost et al (); 20 Ollila et al (); 21 Mastrocola and Heinen (); 22 Belvederesi et al (); 23 Drost et al (); 24 Lutzen et al (); 25 Wielders et al (); 26 Christensen et al (); 27 Geng et al (); 28 Houlleberghs et al (); 29 Lin et al (); 30 Brieger et al ().…”
Section: Discussionmentioning
confidence: 99%
“… 1 Sheng et al (); 2 Yamada et al (); 3 Scartozzi et al (2002); 4 Capozzi et al (1990); 5 Cravo et al (); 6 Sanchez de Abajo et al (); 7 Ward et al (); 8 Barnetson et al (); 9 Lee et al (); 10 Chao et al (); 11 Nakahara et al (); 12 Furukawa et al (); 13 Chan et al (); 14 Yuen et al (); 15 De Lellis et al (); 16 Pastrello et al (); 17 Thompson et al (); 18 Dieumegard et al (); 19 Drost et al (); 20 Ollila et al (); 21 Mastrocola and Heinen (); 22 Belvederesi et al (); 23 Drost et al (); 24 Lutzen et al (); 25 Wielders et al (); 26 Christensen et al (); 27 Geng et al (); 28 Houlleberghs et al (); 29 Lin et al (); 30 Brieger et al ().…”
Section: Discussionmentioning
confidence: 99%
“…One of these cases was reported as small‐intestinal cancer with MSI‐L . In the other case, the results of MSI testing and detailed information on the cancer were unknown . The current report is the first to describe this mutation in Lynch‐syndrome‐related endometrial cancer.…”
Section: Discussionmentioning
confidence: 83%
“…By using this conservative approach, one patient only proved to carry a significant AI, pointing to the lowered expression of one CDH1 allele as the germline defect associated with HDGC. Constitutive silenced or lowered expression of one allele has been reported not only for CDH1 in HDGC (Pinheiro et al, 2010), but also for other cancer-susceptibility genes such as, for example, APC in familial adenomatous polyposis (Renkonen et al, 2005;Castellsagu e et al, 2010), mismatch repair genes in Hereditary Nonpolyposis Colorectal Cancer (Renkonen et al, 2003;De Lellis et al, 2013), and BRCA1 and BRCA2 genes in Hereditary Breast/Ovarian Cancer (Caux-Moncoutier et al 2009). These findings clearly demonstrate that methods to identify expression defects are needed to complement standard mutation screening.…”
Section: Discussionmentioning
confidence: 99%