Genomic alteration in hereditary colorectal patients without mutations in mismatch repair genes
نویسندگان
چکیده
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.
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