[Analysis of K-ras, BRCA1/2, CHEK2 mutations and microsatellite markers (loss of heterozygosity at 9p, 17p and 18q) in sporadic pancreas adenocarcinomas]
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[Analysis of K-ras, BRCA1/2, CHEK2 mutations and microsatellite markers (loss of heterozygosity at 9p, 17p and 18q) in sporadic pancreas adenocarcinomas]. / Amosenko, F A; Kazubskaia, T P; Gromyko, O E; Matveeva, T I; Korchagina, E L; Nasedkina, T V; Gar'kavtseva, R F; Kalinin, Vjacheslav.
In: MOL BIOL (MOSK), Vol. 43, No. 3, 3, 2009, p. 414-421.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - [Analysis of K-ras, BRCA1/2, CHEK2 mutations and microsatellite markers (loss of heterozygosity at 9p, 17p and 18q) in sporadic pancreas adenocarcinomas]
AU - Amosenko, F A
AU - Kazubskaia, T P
AU - Gromyko, O E
AU - Matveeva, T I
AU - Korchagina, E L
AU - Nasedkina, T V
AU - Gar'kavtseva, R F
AU - Kalinin, Vjacheslav
PY - 2009
Y1 - 2009
N2 - The purpose of this study was to investigate informativety and clinical significance of most frequent somatic alterations in K-ras, TP53, CDKN2A, MADH4 and more uncommon mutations in BRCA1, BRCA2, CHEK2 genes, which arise on preinvasive stage in sporadic pancreatic adenocarcinomas (PA), in Russian patients. We examined surgically resected and manually microdissected primary PA tissue samples and samples of normal pancreatic tissue for 37 individuals. K-ras mutations in codon 12 were found in 24 tumors (0.65) and none of normal tissue samples. No mutations were detected in BRCA1(185delAG, 300T > G, 4153delA, 4158A > G,5382insC), BRCA2 (695insT, 6174delT) and CHEK2 (1100delC) genes. Informativety for allelic loss of three tumor suppressor genes studied had not statistically significant differences: 60% - for TP53 (GDB186817) and CDKN2A (D9S974 + D9S162); and 65.7% - for MADH4 (D18S363 + D18S474) (t = 0.48). Maximal frequency of loss of heterozygosity (LOH) was observed for CDKN2A - 0.95. For TP53 and MADH4 it was 0.62 and 0.70 respectively. The tumors included 80% cases showing LOH on different chromosomal loci. The combination of K-ras mutations (c.12) and LOH at 9p, 17p and 18q resulted in a high informativety of selected molecular markers: 85.7%. Instability of microsatellites was found only in 9% of PA.
AB - The purpose of this study was to investigate informativety and clinical significance of most frequent somatic alterations in K-ras, TP53, CDKN2A, MADH4 and more uncommon mutations in BRCA1, BRCA2, CHEK2 genes, which arise on preinvasive stage in sporadic pancreatic adenocarcinomas (PA), in Russian patients. We examined surgically resected and manually microdissected primary PA tissue samples and samples of normal pancreatic tissue for 37 individuals. K-ras mutations in codon 12 were found in 24 tumors (0.65) and none of normal tissue samples. No mutations were detected in BRCA1(185delAG, 300T > G, 4153delA, 4158A > G,5382insC), BRCA2 (695insT, 6174delT) and CHEK2 (1100delC) genes. Informativety for allelic loss of three tumor suppressor genes studied had not statistically significant differences: 60% - for TP53 (GDB186817) and CDKN2A (D9S974 + D9S162); and 65.7% - for MADH4 (D18S363 + D18S474) (t = 0.48). Maximal frequency of loss of heterozygosity (LOH) was observed for CDKN2A - 0.95. For TP53 and MADH4 it was 0.62 and 0.70 respectively. The tumors included 80% cases showing LOH on different chromosomal loci. The combination of K-ras mutations (c.12) and LOH at 9p, 17p and 18q resulted in a high informativety of selected molecular markers: 85.7%. Instability of microsatellites was found only in 9% of PA.
KW - Adult
KW - Humans
KW - Male
KW - Aged
KW - Female
KW - Middle Aged
KW - Mutation
KW - Adenocarcinoma genetics
KW - BRCA1 Protein genetics
KW - BRCA2 Protein genetics
KW - Chromosomes, Human, Pair 17
KW - Chromosomes, Human, Pair 18
KW - Chromosomes, Human, Pair 9
KW - Genes, ras
KW - Genetic Markers
KW - Loss of Heterozygosity
KW - Microsatellite Repeats
KW - Pancreatic Neoplasms genetics
KW - Protein-Serine-Threonine Kinases genetics
KW - Tumor Markers, Biological
KW - Adult
KW - Humans
KW - Male
KW - Aged
KW - Female
KW - Middle Aged
KW - Mutation
KW - Adenocarcinoma genetics
KW - BRCA1 Protein genetics
KW - BRCA2 Protein genetics
KW - Chromosomes, Human, Pair 17
KW - Chromosomes, Human, Pair 18
KW - Chromosomes, Human, Pair 9
KW - Genes, ras
KW - Genetic Markers
KW - Loss of Heterozygosity
KW - Microsatellite Repeats
KW - Pancreatic Neoplasms genetics
KW - Protein-Serine-Threonine Kinases genetics
KW - Tumor Markers, Biological
M3 - SCORING: Zeitschriftenaufsatz
VL - 43
SP - 414
EP - 421
JO - MOL BIOL (MOSK)
JF - MOL BIOL (MOSK)
SN - 0026-8984
IS - 3
M1 - 3
ER -
