Abstract
Results It was found 252 CNVs (4.4 ± 3.6 CNVs/individual), including 104 genomic gains and 148 losses. After comparison with a reference group, composed of 100 healthy Brazilian women (Krepischi et al., 2012) and the Database of Genomic Variants (DGV-hg18), 106 rare CNVs were identified in 41 cases and 10 new rare CNVs in six cases. Four rare CNVs, of the same size, were detected in at least three cases: 1q21.1, 7p22.3, 11q13.2 and 15q11.2. Four patients had new rare CNVs mapped at 7p22.3. In 7p22.3 and 15q11.2.
Highlights
Lynch Syndrome (LS) is the most common hereditary syndrome of colorectal cancer (CRC), caused by mutations in mismatch repair (MMR) genes
It is estimated that 50% of families classified according Amsterdam criteria not show germline mutations in MMR genes
These findings suggest that other genetic or epigenetic factors are associated with predisposition to CRC
Summary
Genomic alteration in hereditary colorectal patients without mutations in mismatch repair genes. Rolando AR Villacis1*, Érika MM Santos[2], Benedito M Rossi[3], Dirce M Carraro[1], Luiz P Kowalski[4], Silvia R Rogatto[1,5]. From São Paulo Advanced School of Comparative Oncology Águas de São Pedro, Brazil. From São Paulo Advanced School of Comparative Oncology Águas de São Pedro, Brazil. 30 September - 6 October 2012
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