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Target gene mutation profile differs between gastrointestinal and endometrial tumors with mismatch repair deficiency

Identifieur interne : 00B531 ( Main/Exploration ); précédent : 00B530; suivant : 00B532

Target gene mutation profile differs between gastrointestinal and endometrial tumors with mismatch repair deficiency

Auteurs : Alex Duval [France] ; Maryline Reperant [France] ; Aurore Compoint [France] ; Raquel Seruca [Portugal] ; Guglielmina N. Ranzani [Italie] ; Barry Iacopetta [Australie] ; Richard Hamelin [France]

Source :

RBID : Pascal:02-0280637

Descripteurs français

English descriptors

Abstract

Mutation frequencies at 25 genes containing coding repeats were compared in colorectal, gastric, and endometrial mismatch repair-deficient (MSI-H) tumors. The overall number of mutations was significantly lower in endometrial than in gastrointestinal MSI-H cancers. Using a likelihood statistical method, target genes were divided in each tumor location into two groups likely to represent gene mutations that do or do not provide selective pressures during tumoral progression. Mutation profiles were quite similar in gastric and colorectal MSI-H cancers but were different in endometrial MSI-H tumors. Deletions in Bat-25 and Bat-26 noncoding repeats were also significantly less important in endometrial as compared with gastrointestinal MSI-H tumors. Our results show that the profile of target gene mutations in MSI-H tumors is tissue specific, with both qualitative and quantitative differences between gastrointestinal and endometrial MSI-H cancers.


Affiliations:


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Le document en format XML

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<keywords scheme="KwdEn" xml:lang="en">
<term>Base mismatching</term>
<term>DNA</term>
<term>Deficiency</term>
<term>Endometrium</term>
<term>Gastrointestinal</term>
<term>Gene</term>
<term>Human</term>
<term>In vitro</term>
<term>Instability</term>
<term>Malignant tumor</term>
<term>Microsatellite DNA</term>
<term>Mutation</term>
<term>Nucleotide sequence</term>
<term>Repair</term>
<term>Repeated sequence</term>
<term>Tissue specificity</term>
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<term>Homme</term>
<term>In vitro</term>
<term>Tissu tumoral</term>
<term>Tumeur maligne</term>
<term>Endomètre</term>
<term>Gastrointestinal</term>
<term>Mutation</term>
<term>DNA</term>
<term>Gène</term>
<term>Séquence nucléotide</term>
<term>Séquence répétée</term>
<term>Instabilité</term>
<term>DNA microsatellite</term>
<term>Réparation</term>
<term>Mésappariement base</term>
<term>Spécificité tissu</term>
<term>Déficit</term>
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<term>Homme</term>
<term>Déficit</term>
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<div type="abstract" xml:lang="en">Mutation frequencies at 25 genes containing coding repeats were compared in colorectal, gastric, and endometrial mismatch repair-deficient (MSI-H) tumors. The overall number of mutations was significantly lower in endometrial than in gastrointestinal MSI-H cancers. Using a likelihood statistical method, target genes were divided in each tumor location into two groups likely to represent gene mutations that do or do not provide selective pressures during tumoral progression. Mutation profiles were quite similar in gastric and colorectal MSI-H cancers but were different in endometrial MSI-H tumors. Deletions in Bat-25 and Bat-26 noncoding repeats were also significantly less important in endometrial as compared with gastrointestinal MSI-H tumors. Our results show that the profile of target gene mutations in MSI-H tumors is tissue specific, with both qualitative and quantitative differences between gastrointestinal and endometrial MSI-H cancers.</div>
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<name sortKey="Ranzani, Guglielmina N" sort="Ranzani, Guglielmina N" uniqKey="Ranzani G" first="Guglielmina N." last="Ranzani">Guglielmina N. Ranzani</name>
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