2016
DOI: 10.1007/s12032-016-0820-2
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Targeted molecular profiling of rare genetic alterations in colorectal cancer using next-generation sequencing

Abstract: Mutation frequencies of common genetic alterations in colorectal cancer have been in the spotlight for many years. This study highlights few rare somatic mutations, which possess the attributes of a potential CRC biomarker yet are often neglected. Next-generation sequencing was performed over 112 tumor samples to detect genetic alterations in 31 rare genes in colorectal cancer. Mutations were detected in 26/31 (83.9 %) uncommon genes, which together contributed toward 149 gene mutations in 67/112 (59.8 %) colo… Show more

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Cited by 26 publications
(26 citation statements)
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“…To the best of our knowledge, this study is one of the largest retrospective studies to date characterizing SMAD4 mutations in CRC patients and demonstrates a prognostic role for this mutation in metastatic CRC cases. The prevalence and spectrum of SMAD4 mutations in our patients who underwent full-length sequencing (n = 49) were consistent with those in previous studies and data from TCGA [29, 31, 42]. Most of the mutations were missense mutations, and the hotspot regions affected by mutations were Arg361 and Pro356, which are located in the MH2 domain.…”
Section: Discussionsupporting
confidence: 90%
See 1 more Smart Citation
“…To the best of our knowledge, this study is one of the largest retrospective studies to date characterizing SMAD4 mutations in CRC patients and demonstrates a prognostic role for this mutation in metastatic CRC cases. The prevalence and spectrum of SMAD4 mutations in our patients who underwent full-length sequencing (n = 49) were consistent with those in previous studies and data from TCGA [29, 31, 42]. Most of the mutations were missense mutations, and the hotspot regions affected by mutations were Arg361 and Pro356, which are located in the MH2 domain.…”
Section: Discussionsupporting
confidence: 90%
“…Sporadic mutation of SMAD4 has been reported in 2.1–20.0% of CRC cases [2530]. The occurrence of SMAD4 mutation in CRC is considered a late event and usually happens in combination with other alterations [27, 31]. In a study performed on primary and metastatic tumor pairs, SMAD4 mutation was one of the frequent novel mutations in metastases; the finding that suggests SMAD4 is involved in clonal divergence [32].…”
Section: Introductionmentioning
confidence: 99%
“…Meanwhile, genotypes of major mature cancer cells would be identical to those of cancer tissues; therefore, it was expected that genotypes of cancer tissue-derived iPSC lines would be identical to those of their starting cancer tissues. It was reported that ERBB2 mutations were persistent in 3.6% of patients with colorectal cancer[18]. Indeed, a mutated genotype in ERBB2 of the colon cancer tissues was also identified in this study.…”
Section: Discussionsupporting
confidence: 73%
“…Recent studies of ERBB2 amplification and sequence mutations in colorectal cancer (CRC) suggest that HER2 is a therapy target in this disease, in addition to being a mechanism of resistance to epidermal growth factor receptor (EGFR)‐targeted therapies such as cetuximab and panitumumab . Similarly, reports of high‐level ERBB3 amplification being a negative prognostic factor within the context of CRC suggest that HER3 may also be a target in this tumor type .…”
Section: Introductionmentioning
confidence: 99%
“…11,[19][20][21][22][23][24][25] Alterations in the HER2 dimerization partner HER3, encoded by ERBB3, can also activate HER2 signaling and underlie sensitivity to targeted therapies. 11,[26][27][28] Recent studies of ERBB2 amplification and sequence mutations in colorectal cancer (CRC) suggest that HER2 is a therapy target in this disease, [29][30][31][32][33] in addition to being a mechanism of resistance to epidermal growth factor receptor (EGFR)-targeted therapies such as cetuximab and panitumumab. [34][35][36][37][38] Similarly, reports of high-level ERBB3 amplification being a negative prognostic factor within the context of CRC suggest that HER3 may also be a target in this tumor type.…”
Section: Introductionmentioning
confidence: 99%