Concurrent mutation in exons 1 and 2 of the K-ras oncogene in colorectal cancer
The K-ras gene is frequently mutated in colorectal cancer and has been associated with tumor initiation and progression; approximately 90% of the activating mutations are found in codons 12 and 13 of exon 1 and just under 5% in codon 61 located in exon 2. These mutations determine single aminoacidic...
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| Format: | Article |
| Language: | English |
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Via Medica
2012-01-01
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| Series: | Folia Histochemica et Cytobiologica |
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| Online Access: | http://czasopisma.viamedica.pl/fhc/article/view/14737 |
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| author | Fiorella Guadagni Cristiano Ialongo Giuseppe Maria Ettorre Renato Covello Maria Laura De Marchis Giorgia Ludovici Annalisa Savonarola Raffaele Palmirotta |
| author_facet | Fiorella Guadagni Cristiano Ialongo Giuseppe Maria Ettorre Renato Covello Maria Laura De Marchis Giorgia Ludovici Annalisa Savonarola Raffaele Palmirotta |
| author_sort | Fiorella Guadagni |
| collection | DOAJ |
| description | The K-ras gene is frequently mutated in colorectal cancer and has been associated with tumor initiation and progression; approximately 90% of the activating mutations are found in codons 12 and 13 of exon 1 and just under 5% in codon 61 located in exon 2. These mutations determine single aminoacidic substitutions in the GTPase pocket leading to a block of the GTP hydrolytic activity of the K-ras p21 protein, and therefore to its constitutive activation. Point mutations in sites of the K-ras gene, other than codons 12, 13 and 61, and other types of genetic alterations, may occur in a minority of cases, such as in the less frequent cases of double mutations in the K-ras gene. However, all mutations in this gene, even those which occur in non-canonical sites or double mutations, are relevant oncogenic alterations in colorectal cancer and may underlie K-ras pathway hyperactivation. In the present study, we report the case of a patient with colorectal cancer presenting a concurrent point mutation in exons 1 and 2 of the K-ras gene, a GGT to TGT substitution (Glycine to Cysteine) at codon 12, and a GAC to AAC substitution (Aspartic Acid to Asparagine) at codon 57. In addition, we found in the same patient&#8217;s sample a silent polymorphism at codon 11 (Ala11Ala) of exon 1. (<i>Folia Histochemica et Cytobiologica 2011; Vol. 49, No. 4, pp. 729&#8211;733</i>) |
| first_indexed | 2024-04-13T17:11:31Z |
| format | Article |
| id | doaj.art-1293e322f2ba48c980e638fed717b037 |
| institution | Directory Open Access Journal |
| issn | 0239-8508 1897-5631 |
| language | English |
| last_indexed | 2024-04-13T17:11:31Z |
| publishDate | 2012-01-01 |
| publisher | Via Medica |
| record_format | Article |
| series | Folia Histochemica et Cytobiologica |
| spelling | doaj.art-1293e322f2ba48c980e638fed717b0372022-12-22T02:38:15ZengVia MedicaFolia Histochemica et Cytobiologica0239-85081897-56312012-01-0149472973310.5603/14737Concurrent mutation in exons 1 and 2 of the K-ras oncogene in colorectal cancerFiorella GuadagniCristiano IalongoGiuseppe Maria EttorreRenato CovelloMaria Laura De MarchisGiorgia LudoviciAnnalisa SavonarolaRaffaele PalmirottaThe K-ras gene is frequently mutated in colorectal cancer and has been associated with tumor initiation and progression; approximately 90% of the activating mutations are found in codons 12 and 13 of exon 1 and just under 5% in codon 61 located in exon 2. These mutations determine single aminoacidic substitutions in the GTPase pocket leading to a block of the GTP hydrolytic activity of the K-ras p21 protein, and therefore to its constitutive activation. Point mutations in sites of the K-ras gene, other than codons 12, 13 and 61, and other types of genetic alterations, may occur in a minority of cases, such as in the less frequent cases of double mutations in the K-ras gene. However, all mutations in this gene, even those which occur in non-canonical sites or double mutations, are relevant oncogenic alterations in colorectal cancer and may underlie K-ras pathway hyperactivation. In the present study, we report the case of a patient with colorectal cancer presenting a concurrent point mutation in exons 1 and 2 of the K-ras gene, a GGT to TGT substitution (Glycine to Cysteine) at codon 12, and a GAC to AAC substitution (Aspartic Acid to Asparagine) at codon 57. In addition, we found in the same patient&#8217;s sample a silent polymorphism at codon 11 (Ala11Ala) of exon 1. (<i>Folia Histochemica et Cytobiologica 2011; Vol. 49, No. 4, pp. 729&#8211;733</i>)http://czasopisma.viamedica.pl/fhc/article/view/14737colorectal cancerK-rasdouble mutation |
| spellingShingle | Fiorella Guadagni Cristiano Ialongo Giuseppe Maria Ettorre Renato Covello Maria Laura De Marchis Giorgia Ludovici Annalisa Savonarola Raffaele Palmirotta Concurrent mutation in exons 1 and 2 of the K-ras oncogene in colorectal cancer Folia Histochemica et Cytobiologica colorectal cancer K-ras double mutation |
| title | Concurrent mutation in exons 1 and 2 of the K-ras oncogene in colorectal cancer |
| title_full | Concurrent mutation in exons 1 and 2 of the K-ras oncogene in colorectal cancer |
| title_fullStr | Concurrent mutation in exons 1 and 2 of the K-ras oncogene in colorectal cancer |
| title_full_unstemmed | Concurrent mutation in exons 1 and 2 of the K-ras oncogene in colorectal cancer |
| title_short | Concurrent mutation in exons 1 and 2 of the K-ras oncogene in colorectal cancer |
| title_sort | concurrent mutation in exons 1 and 2 of the k ras oncogene in colorectal cancer |
| topic | colorectal cancer K-ras double mutation |
| url | http://czasopisma.viamedica.pl/fhc/article/view/14737 |
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