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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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    1. karim2001khoury 19 Feb 2026
      Limited copy number - high resolution melting (LCN-HRM) enables the detection and identification by sequencing of low level mutations in cancer biopsies

      [Paper-level Aggregated] PMCID: PMC2766370

      Evidence Type(s): Diagnostic, Oncogenic

      Justification: Diagnostic: The text describes the use of LCN-HRM and sequencing to identify specific mutations (c.34G>T and delE746_A750) in DNA samples, indicating that these methods are employed for diagnostic purposes to detect the presence of these variants. Oncogenic: The presence of mutations such as c.34G>T (p.G12C) and delE746_A750 in EGFR is associated with oncogenic activity in non-small cell lung cancer (NSCLC), suggesting that these variants contribute to cancer development.

      Gene→Variant (gene-first): KRAS(3845):c.34G>T KRAS(3845):p.G12C KRAS(3845):c.38G>A KRAS(3845):delE746_A750 EGFR

      Genes: KRAS(3845)

      Variants: c.34G>T p.G12C c.38G>A delE746_A750 EGFR

      CIViC paper-level aggregated PMC2766370
    2. karim2001khoury 19 Feb 2026
      Three other FFPE samples from NSCLC patients were also investigated by LCN-HRM for mutations in EGFR exons 19 (TX13) and 21 (TX49, TX86). After sequencing the LCM-HRM positive products, multiple non-identical sequence va

      [Paragraph-level] PMCID: PMC2766370 Section: RESULTS PassageIndex: 10

      Evidence Type(s): None

      Justification: Not enough information in this passage.

      Gene→Variant (gene-first): 1956:c.2192G>A 1956:c.2224G>A 1956:c.2488G>A

      Genes: 1956

      Variants: c.2192G>A c.2224G>A c.2488G>A

      CIViC paragraph-level PMC2766370
    3. karim2001khoury 19 Feb 2026
      Non-identical KRAS sequence variants were also detected in five of the other LCN-HRM reactions; c.22G>A, c.32C>A, c.38G>A, c.59C>T and c.100C>T. These transitional changes have not been previously reported, except those

      [Paragraph-level] PMCID: PMC2766370 Section: RESULTS PassageIndex: 9

      Evidence Type(s): None

      Justification: Not enough information in this passage.

      Gene→Variant (gene-first): 3845:C>A 3845:C>T 3845:G>A 7157:c.100C>T 1956:c.22G>A 3845:c.32C>A 3845:c.38 (codon 13) 3845:c.38G>A 7157:c.59C>T

      Genes: 3845 7157 1956

      Variants: C>A C>T G>A c.100C>T c.22G>A c.32C>A c.38 (codon 13) c.38G>A c.59C>T

      CIViC paragraph-level PMC2766370
    4. karim2001khoury 19 Feb 2026
      Four NSCLC samples extracted from FFPE tissues were tested by LCN-HRM to investigate the cause of discrepant results between HRM and sequencing. TX450 was negative by sequencing but positive by HRM for KRAS exon 2. After

      [Paragraph-level] PMCID: PMC2766370 Section: RESULTS PassageIndex: 8

      Evidence Type(s): Diagnostic, Oncogenic

      Justification: Diagnostic: The passage discusses the detection of the KRAS mutation c.34G>T (p.G12C) in NSCLC samples, indicating its association with the disease and its role in characterizing the mutation through sequencing. Oncogenic: The variant c.34G>T (p.G12C) is mentioned in the context of being a mutation detected in NSCLC samples, suggesting its contribution to tumor development or progression.

      Gene→Variant (gene-first): 3845:c.34G>T 3845:p.G12C

      Genes: 3845

      Variants: c.34G>T p.G12C

      CIViC paragraph-level PMC2766370 Diagnostic Oncogenic
    5. karim2001khoury 19 Feb 2026
      HCT116 and NCI-H1650 DNA dilutions with a 5% mutant allele frequency were sequencing negative for KRAS exon 2 missense and EGFR exon 19 deletion mutations respectively (Figure 1, data not shown for EGFR exon 19). The sam

      [Paragraph-level] PMCID: PMC2766370 Section: RESULTS PassageIndex: 6

      Evidence Type(s): Diagnostic, Oncogenic

      Justification: Diagnostic: The passage discusses the identification of specific mutations (c.38G>A and delE746_A750) in the context of sequencing and testing, indicating their role in defining or confirming the presence of these mutations in the respective cell lines. Oncogenic: The mention of the delE746_A750 EGFR mutation in the context of tumor cell lines (NCI-H1650) suggests that this somatic variant contributes to tumor development or progression.

      Gene→Variant (gene-first): 3845:c.38G>A 3845:delE746_A750 EGFR

      Genes: 3845

      Variants: c.38G>A delE746_A750 EGFR

      CIViC paragraph-level PMC2766370 Diagnostic Oncogenic
    6. karim2001khoury 19 Feb 2026
      The relative sensitivity of mutation detection by dideoxynucleotide sequencing and HRM was compared using dilutions of HCT116 DNA (heterozygous for the c.38G>A KRAS mutation) in normal DNA. To ensure the maximum accuracy

      [Paragraph-level] PMCID: PMC2766370 Section: RESULTS PassageIndex: 3

      Evidence Type(s): None

      Justification: Not enough information in this passage.

      Gene→Variant (gene-first): 3845:c.38G>A

      Genes: 3845

      Variants: c.38G>A

      CIViC paragraph-level PMC2766370
    7. karim2001khoury 19 Feb 2026
      Three other FFPE samples from NSCLC patients were also investigated by LCN-HRM for mutations in EGFR exons 19 (TX13) and 21 (TX49, TX86). After sequencing the LCM-HRM positive products, multiple non-identical sequence va

      [Paragraph-level] PMCID: PMC2766370 Section: RESULTS PassageIndex: 10

      Evidence Type(s): None

      Justification: Not enough information in this passage.

      Gene→Variant (gene-first): 1956:c.2192G>A 1956:c.2224G>A 1956:c.2488G>A

      Genes: 1956

      Variants: c.2192G>A c.2224G>A c.2488G>A

      CIViC paragraph-level PMC2766370
    8. karim2001khoury 19 Feb 2026
      Non-identical KRAS sequence variants were also detected in five of the other LCN-HRM reactions; c.22G>A, c.32C>A, c.38G>A, c.59C>T and c.100C>T. These transitional changes have not been previously reported, except those

      [Paragraph-level] PMCID: PMC2766370 Section: RESULTS PassageIndex: 9

      Evidence Type(s): None

      Justification: Not enough information in this passage.

      Gene→Variant (gene-first): 3845:C>A 3845:C>T 3845:G>A 7157:c.100C>T 1956:c.22G>A 3845:c.32C>A 3845:c.38 (codon 13) 3845:c.38G>A 7157:c.59C>T

      Genes: 3845 7157 1956

      Variants: C>A C>T G>A c.100C>T c.22G>A c.32C>A c.38 (codon 13) c.38G>A c.59C>T

      CIViC paragraph-level PMC2766370
    9. karim2001khoury 19 Feb 2026
      Four NSCLC samples extracted from FFPE tissues were tested by LCN-HRM to investigate the cause of discrepant results between HRM and sequencing. TX450 was negative by sequencing but positive by HRM for KRAS exon 2. After

      [Paragraph-level] PMCID: PMC2766370 Section: RESULTS PassageIndex: 8

      Evidence Type(s): Diagnostic, Oncogenic

      Justification: Diagnostic: The passage discusses the detection of the KRAS mutation c.34G>T (p.G12C) in NSCLC samples, indicating its association with the disease and its role in characterizing the mutation through sequencing. Oncogenic: The variant c.34G>T (p.G12C) is mentioned in the context of being a mutation detected in NSCLC samples, suggesting its contribution to tumor development or progression.

      Gene→Variant (gene-first): 3845:c.34G>T 3845:p.G12C

      Genes: 3845

      Variants: c.34G>T p.G12C

      CIViC paragraph-level PMC2766370 Diagnostic Oncogenic
    10. karim2001khoury 19 Feb 2026
      HCT116 and NCI-H1650 DNA dilutions with a 5% mutant allele frequency were sequencing negative for KRAS exon 2 missense and EGFR exon 19 deletion mutations respectively (Figure 1, data not shown for EGFR exon 19). The sam

      [Paragraph-level] PMCID: PMC2766370 Section: RESULTS PassageIndex: 6

      Evidence Type(s): Diagnostic, Oncogenic

      Justification: Diagnostic: The passage discusses the identification of specific mutations (c.38G>A and delE746_A750) in the context of sequencing and testing, indicating their role in defining or confirming the presence of these mutations in the respective cell lines. Oncogenic: The mention of the delE746_A750 EGFR mutation in the context of tumor cell lines (NCI-H1650) suggests that this somatic variant contributes to tumor development or progression.

      Gene→Variant (gene-first): 3845:c.38G>A 3845:delE746_A750 EGFR

      Genes: 3845

      Variants: c.38G>A delE746_A750 EGFR

      CIViC paragraph-level PMC2766370 Diagnostic Oncogenic
    11. karim2001khoury 19 Feb 2026
      The relative sensitivity of mutation detection by dideoxynucleotide sequencing and HRM was compared using dilutions of HCT116 DNA (heterozygous for the c.38G>A KRAS mutation) in normal DNA. To ensure the maximum accuracy

      [Paragraph-level] PMCID: PMC2766370 Section: RESULTS PassageIndex: 3

      Evidence Type(s): None

      Justification: Not enough information in this passage.

      Gene→Variant (gene-first): 3845:c.38G>A

      Genes: 3845

      Variants: c.38G>A

      CIViC paragraph-level PMC2766370
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    pmc.ncbi.nlm.nih.gov/articles/PMC2766370/pdf/1476-4598-8-82.pdf