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

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 met...

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Bibliographic Details
Published inCancer research (Chicago, Ill.) Vol. 62; no. 6; pp. 1609 - 1612
Main Authors DUVAL, Alex, REPERANT, Maryline, COMPOINT, Aurore, SERUCA, Raquel, RANZANI, Guglielmina N, IACOPETTA, Barry, HAMELIN, Richard
Format Journal Article
LanguageEnglish
Published Philadelphia, PA American Association for Cancer Research 15.03.2002
Subjects
Base Pair Mismatch - genetics
Biological and medical sciences
Colonic Neoplasms - genetics
DNA Repair - genetics
Endometrial Neoplasms - genetics
Female
Female genital diseases
Gastroenterology. Liver. Pancreas. Abdomen
Gynecology. Andrology. Obstetrics
Humans
Medical sciences
Microsatellite Repeats - genetics
Mutation
Stomach Neoplasms - genetics
Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
Tumors
Human
Nucleotide sequence
Repeated sequence
Deficiency
Tumoral tissue
Tissue specificity
Malignant tumor
Gastrointestinal
In vitro
Female genital diseases
Colonic disease
Base mismatching
Gene
Microsatellite DNA
DNA
Uterine diseases
Digestive diseases
Instability
Mutation
Repair
Endometrium
Gastric disease
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Summary: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.
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ISSN:0008-5472
1538-7445