Pattern of clinically relevant mutations in consecutive series of Russian colorectal cancer patients

Yanus, Grigoriy A.; Belyaeva, A.; Ivantsov, Alexandr O.; Kuligina, Ekatherina Sh.; Suspitsin, Evgeny N.; Mitiushkina, Natalia V.; Aleksakhina, Svetlana N.; Iyevleva, Aglaya G.; Zaitseva, Olga A.; Yatsuk, Olga S.; Gorodnova, Tatiana V.; Strelkova, Tatiana N.; Efremova, Sofia A.; Lepenchuk, Alla Yu.; Ochir-Garyaev, Altn N.; Paneyah, Moisey B.; Matsko, Dmitriy E.; Togo, Alexandr V.; Imyanitov, Evgeny N.

doi:10.1007/s12032-013-0686-5

Cited by 46 publications

(33 citation statements)

References 26 publications

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“…The frequency of BRAF D594G mutations in colorectal cancers has been reported as 0.3-2.3% of colorectal cancers [13,14,15,16,17,18,19,20,21]. To date, 22 colorectal cancers with BRAF D594G mutations have been registered in the COSMIC database (http://cancer.sanger.ac.uk/cosmic); however, since BRAF D594G mutations are rare in colorectal cancer, it is difficult to draw conclusions based on these data.…”

Section: Discussionmentioning

confidence: 99%

Colorectal Cancer with BRAF D594G Mutation Is Not Associated with Microsatellite Instability or Poor Prognosis

Amaki-Takao

Yamaguchi²,

Natsume³

et al. 2016

Oncology

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Objective:BRAF D594G mutations in colorectal cancer patients are not clearly understood. We retrospectively investigated the clinicopathological features of colorectal cancers with BRAF D594G mutations. Methods: We selected 908 colorectal cancer patients who underwent surgical resection from January 2008 to January 2013, and assessed BRAF, KRAS, microsatellite instability, and CpG island methylator phenotype (CIMP). Results: We detected BRAF D594G in 7 patients and BRAF V600E in 45 patients. The clinicopathological features of cancers with BRAF D594G mutation were similar to those with BRAF wild-type, but differed from those with BRAF V600E mutations. Regarding microsatellite instability status, 44.4% of cases with BRAF V600E mutations exhibited high microsatellite instability, compared to 14.3% of those with BRAF D594G mutations and 4.4% of those with BRAF wild-type. There were no CIMP-positive tumors in cancers with BRAF D594G mutations, whereas 67.8% of tumors with BRAF V600E mutations were CIMP-positive. In stage IV cancers, the survival rates of patients at 2 years were 8.5, 50.0, and 68.2% in the BRAF V600E mutation, BRAF D594G mutation, and BRAF wild-type groups, respectively. Conclusion: Colorectal cancers with BRAF D594G mutations exhibit similar clinicopathological features, microsatellite instability status, and prognosis as those with BRAF wild-type.

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Section: Discussionmentioning

confidence: 99%

Colorectal Cancer with BRAF D594G Mutation Is Not Associated with Microsatellite Instability or Poor Prognosis

Amaki-Takao

Yamaguchi²,

Natsume³

et al. 2016

Oncology

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“…EGFR mutations (exon 19 deletions and L858R point mutation) were detected as described in our earlier report [19], and the EGFR wild-type tumors were further subjected to analysis of ALK translocations using the two-step procedure: samples were screened for unbalanced expression of the 5'/3'-ends of the ALK transcript [20] and those with evidence of ALK rearrangement were subsequently genotyped for 18 known ALK fusion variants. The EGFR/ALK mutationnegative lung AdCa were further screened for the presence of KRAS mutations in codons 12-13, 61 and 146; high-resolution melting (HRM) analysis was used in the prescreening and allele-specific PCR and/or direct sequencing identified the type of mutation [21]. Similarly, combined allele-specific PCR for V600E substitution and HRM/sequencing for identification of rare exon 15 mutations were used for BRAF gene analysis [21].…”

Section: Methodsmentioning

confidence: 99%

“…The EGFR/ALK mutationnegative lung AdCa were further screened for the presence of KRAS mutations in codons 12-13, 61 and 146; high-resolution melting (HRM) analysis was used in the prescreening and allele-specific PCR and/or direct sequencing identified the type of mutation [21]. Similarly, combined allele-specific PCR for V600E substitution and HRM/sequencing for identification of rare exon 15 mutations were used for BRAF gene analysis [21]. Sanger sequencing was conducted with the GenomeLab GeXP Genetic Analysis System (Beckman Coulter) and PyroMark Q24 instrument (Quiagen) was used for pyrosequencing.…”

Section: Methodsmentioning

confidence: 99%

PCR-based detection of EGFR, ALK, KRAS and BRAF mutations in Russian patients with lung adenocarcinoma: a single-center experience

Kholmatov

et al. 2018

neo

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In contrast to other countries with predominantly white populations, Russian smoking-related lung cancers (LC) are mainly squamous cell carcinomas and approximately half lung adenocarcinomas (AdCa) are not related to tobacco consumption. Given that smoking significantly influences the probability of presence of actionable mutations in LC, one would expect that Russian lung AdCa patients would differ from other white populations in distribution of EGFR, ALK, KRAS and BRAF mutations. Herein, 2,336 consecutive lung AdCa cases, including 1,203 patients with known smoking status, were subjected to sequential testing for the above mutations. One quarter of lung AdCa patients carried either EGFR or ALK mutation with combined prevalence of 42% in those who had never smoked but only 8% in smokers. There was only a moderate difference in KRAS mutation frequency between ever-and never-smokers in EGFR/ALK-negative cases (31% vs. 23%), and this was mainly attributed to increased prevalence of G12C substitution in the former group. The occurrence of BRAF V600E mutation was 1.7% and 4% in EGFR/ALK/KRAS mutation-negative ever-and never-smokers, respectively. ALK testing of 470 EGFR-mutated tumors revealed only 1 (0.2%) instance of translocation. Similarly, KRAS testing identified 1 (1.25%) mutation in 80 EGFR-mutated AdCa and none in 48 ALK-rearranged AdCa. Therefore, concurrent actionable mutations in lung adenocarcinoma are exceptionally rare and sequential gene testing can be regarded as a reliable option.

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“…5'-CACTCCCCGTTCTCCATCA-3' 102 *References correspond to the studies, which demonstrated the organ-specific pattern of expression of the mentioned genes; CDH17, SPB and mammoglobin markers were also utilized in the commercial Veridex CUP assay [31]. Primer sequences presented in the Table were designed specifically for this study and validated by gel-electrophoresis; PCR conditions for KRAS, BRAF, EGFR and BRCA1 mutation testing were described in [21][22][23].…”

Section: Methodsmentioning

confidence: 99%

Diagnosis of carcinoma of unknown primary site with the aid of simple PCR tests: a single-center experience

Suspitsin

Yanus

Imyanitov

2018

neo

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This study was aimed to incorporate PCR testing in the determination of organ/tissue origin for cancers of unknown primary site (CUP). We developed a PCR panel consisting of 7 expression markers (CDX2, CDH17, SPB, UGRP, MAM, LPB, TG) and 2 genes frequently mutated in cancer (KRAS and BRAF). The expression tests were intentionally interpreted in a non-quantitative way, i.e. classified tumors either as positive or negative expressors. While applying these tests to 135 cancers belonging to 8 common types of adenocarcinomas (AdCa), we observed that this panel was capable to clearly discriminate between gastrointestinal vs. female reproductive tract vs. lung vs. thyroid tumors in 112 (83%) of cases and provided suggestive clues to correct diagnosis in 20 (15%) of instances. We further assessed the performance of this panel, coupled with the occasional use of 2 additional mutation tests (somatic: EGFR; germ-line: BRCA1), in the real diagnostic setting. The PCR analysis of 20 consecutive CUP with known IHC status turned out to be clinically useful in 19 (95%) cases, with 16 (80%) instances of resolving the existing controversy and 3 (15%) cases of providing valuable confirmation to suspected diagnosis. PCR testing of 20 consecutive CUP with unknown IHC status succeeded to establish tumor organ/tissue origin in 15 (75%) instances and provided suggestive clues to the diagnosis in 3 (15%) patients. We conclude that simple non-expensive laboratory-developed PCR assays may aid CUP diagnosis in a significant proportion of cases.

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Pattern of clinically relevant mutations in consecutive series of Russian colorectal cancer patients

Cited by 46 publications

References 26 publications

Colorectal Cancer with <b><i>BRAF</i></b> D594G Mutation Is Not Associated with Microsatellite Instability or Poor Prognosis

Colorectal Cancer with <b><i>BRAF</i></b> D594G Mutation Is Not Associated with Microsatellite Instability or Poor Prognosis

PCR-based detection of EGFR, ALK, KRAS and BRAF mutations in Russian patients with lung adenocarcinoma: a single-center experience

Diagnosis of carcinoma of unknown primary site with the aid of simple PCR tests: a single-center experience

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