[Paper-level Aggregated] PMCID: PMC5002925

Evidence Type(s): Functional

Summary: Mutation: p.N581S | Summary: The BRAF p.N581S mutation was verified and its biological effect was predicted using algorithms, indicating that it alters molecular or biochemical function.

Evidence Type: Functional Mutation: p.L755S | Summary: The ERBB2 p.L755S mutation is described in the context of its biological significance, indicating an alteration in molecular function.

Gene→Variant (gene-first): BRAF(673):p.N581S ERBB2(2064):p.L755S

Genes: BRAF(673) ERBB2(2064)

Variants: p.N581S p.L755S

[Paper-level Aggregated] PMCID: PMC5002925

Evidence Type(s): Oncogenic

Summary: Mutation: c.4285delC (p.Gln1429fs/p.Q1429fs) | Summary: The APC c.4285delC (p.Q1429fs) mutation is identified as a heterozygous somatic variant that contributes to tumor development or progression in the context of rectal adenocarcinoma, as it was detected in tumor samples.

Evidence Type: Oncogenic Mutation: c.1742A>G (p.Asn581Ser/p.N581S) | Summary: The BRAF c.1742A>G (p.N581S) mutation is a heterozygous somatic variant that is implicated in tumor development or progression in the patient's rectal adenocarcinoma, as evidenced by its detection in tumor samples.

Evidence Type: Oncogenic Mutation: c.2264T>C (p.Leu755Ser/p.L755S) | Summary: The ERBB2 c.2264T>C (p.L755S) mutation is a heterozygous somatic variant that likely contributes to tumor development or progression, as indicated by its classification as an activating mutation and its presence in tumor samples.

Gene→Variant (gene-first): NA:c.4285delC (p.Gln1429fs/p.Q1429fs) NA:c.1742A>G (p.Asn581Ser/p.N581S) NA:c.2264T>C (p.Leu755Ser/p.L755S)

Genes: NA

Variants: c.4285delC (p.Gln1429fs/p.Q1429fs) c.1742A>G (p.Asn581Ser/p.N581S) c.2264T>C (p.Leu755Ser/p.L755S)

[Paper-level Aggregated] PMCID: PMC5002925

Evidence Type(s): Predictive

Summary: Mutation: p.L755S | Summary: The ERBB2 p.L755S mutation was used to guide treatment with trastuzumab, indicating a correlation with therapy response.

Evidence Type: Predictive

Gene→Variant (gene-first): ERBB2(2064):p.L755S

Genes: ERBB2(2064)

Variants: p.L755S

[Paragraph-level] PMCID: PMC5002925 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Predictive, Oncogenic, Functional

Summary: Evidence Type: Predictive | Mutation: p.L755S | Summary: The ERBB2 p.L755S mutation was used to guide treatment with trastuzumab, indicating a correlation with therapy response. Evidence Type: Oncogenic | Mutation: p.L755S | Summary: The presence of the ERBB2 p.L755S mutation suggests it may contribute to tumor development or progression in colorectal cancer. Evidence Type: Functional | Mutation: p.L755S | Summary: The mutation is described in the context of its biological significance, indicating an alteration in molecular function. Evidence Type: Oncogenic | Mutation: p.N581S | Summary: The BRAF p.N581S mutation is mentioned as a genetic driver event, suggesting its role in tumor development or progression. Evidence Type: Oncogenic | Mutation: p.Q1429fs | Summary: The APC p.Q1429fs mutation is identified as a genetic driver event, indicating its contribution to tumor development or progression.

Gene→Variant (gene-first): 2064:p.L755S 673:p.N581S 324:p.Q1429fs

Genes: 2064 673 324

Variants: p.L755S p.N581S p.Q1429fs

[Paragraph-level] PMCID: PMC5002925 Section: RESULTS PassageIndex: 6

Evidence Type(s): Oncogenic, Functional

Summary: Evidence Type: Oncogenic | Mutation: p.L755S | Summary: The ERBB2 p.L755S mutation is a heterozygous somatic mutation that contributes to tumor development or progression, as indicated by its presence in tumor samples and its allele frequency. Evidence Type: Oncogenic | Mutation: p.Q1429fs | Summary: The APC p.Q1429fs mutation is a heterozygous somatic mutation that is associated with tumor development or progression, as it was detected in tumor samples. Evidence Type: Oncogenic | Mutation: p.N518S | Summary: The BRAF p.N518S mutation is a heterozygous somatic mutation that contributes to tumor development or progression, as evidenced by its detection in tumor samples. Evidence Type: Functional | Mutation: p.N581S | Summary: The BRAF p.N581S mutation was verified and its biological effect was predicted using algorithms, indicating that it alters molecular or biochemical function.

Gene→Variant (gene-first): 2064:p.L755S 673:p.N518S 673:p.N581S 324:p.Q1429fs

Genes: 2064 673 324

Variants: p.L755S p.N518S p.N581S p.Q1429fs

[Paragraph-level] PMCID: PMC5002925 Section: RESULTS PassageIndex: 3

Evidence Type(s): Oncogenic

Summary: Evidence Type: Oncogenic | Mutation: c.4285delC (p.Gln1429fs/p.Q1429fs) | Summary: The APC c.4285delC mutation is identified as a somatic variant that contributes to tumor development or progression in the context of rectal adenocarcinoma. Evidence Type: Oncogenic | Mutation: c.1742A>G (p.Asn581Ser/p.N581S) | Summary: The BRAF c.1742A>G mutation is a somatic variant that is implicated in tumor development or progression in the patient's rectal adenocarcinoma. Evidence Type: Oncogenic | Mutation: c.2264T>C (p.Leu755Ser/p.L755S) | Summary: The ERBB2 c.2264T>C mutation is a somatic variant that likely contributes to tumor development or progression, as indicated by its classification as an activating mutation.

Gene→Variant (gene-first): 673:c.1742A>G 2064:c.2264T>C 324:c.4285delC 673:p.Asn581Ser 324:p.Gln1429fs 2064:p.L755S 2064:p.Leu755Ser 673:p.N581S 324:p.Q1429fs

Genes: 673 2064 324

Variants: c.1742A>G c.2264T>C c.4285delC p.Asn581Ser p.Gln1429fs p.L755S p.Leu755Ser p.N581S p.Q1429fs

[Paper-level Aggregated] PMCID: PMC5002925

Evidence Type(s): Oncogenic, Predictive, Functional

Justification: Oncogenic: The ERBB2 p.L755S mutation is described as likely being an activating mutation, indicating its potential role in driving cancer progression. Predictive: The presence of the ERBB2 p.L755S mutation guided the treatment decision to use trastuzumab, suggesting its predictive value for response to targeted therapy. Functional: The biological effect of the detected mutations was predicted using algorithms, indicating an assessment of their functional impact on tumor behavior.

Gene→Variant (gene-first): BRAF(673):c.1742A>G ERBB2(2064):c.2264T>C APC(324):c.4285delC BRAF(673):p.Asn581Ser APC(324):p.Gln1429fs ERBB2(2064):p.L755S ERBB2(2064):p.Leu755Ser BRAF(673):p.N581S APC(324):p.Q1429fs BRAF(673):p.N518S

Genes: BRAF(673) ERBB2(2064) APC(324)

Variants: c.1742A>G c.2264T>C c.4285delC p.Asn581Ser p.Gln1429fs p.L755S p.Leu755Ser p.N581S p.Q1429fs p.N518S

[Paragraph-level] PMCID: PMC5002925 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Predictive, Oncogenic

Justification: Predictive: The passage discusses the treatment of a patient with advanced colorectal cancer using trastuzumab based on the presence of the ERBB2 p.L755S mutation, indicating a correlation with therapy response. Oncogenic: The mention of the ERBB2 p.L755S mutation as a genetic driver event in the context of advanced colorectal cancer suggests its role in tumor development or progression.

Gene→Variant (gene-first): 2064:p.L755S 673:p.N581S 324:p.Q1429fs

Genes: 2064 673 324

Variants: p.L755S p.N581S p.Q1429fs

[Paragraph-level] PMCID: PMC5002925 Section: RESULTS PassageIndex: 6

Evidence Type(s): Oncogenic, Functional

Justification: Oncogenic: The passage discusses heterozygous somatic mutations, including ERBB2 p.L755S, APC p.Q1429fs, and BRAF p.N518S, which are associated with tumor development and progression, indicating their oncogenic potential. Functional: The passage mentions that the biological effect of the detected mutations was predicted using algorithms, suggesting an alteration in molecular or biochemical function related to these variants.

Gene→Variant (gene-first): 2064:p.L755S 673:p.N518S 673:p.N581S 324:p.Q1429fs

Genes: 2064 673 324

Variants: p.L755S p.N518S p.N581S p.Q1429fs

[Paragraph-level] PMCID: PMC5002925 Section: RESULTS PassageIndex: 3

Evidence Type(s): Predictive, Oncogenic

Justification: Predictive: The passage discusses the treatment response to therapies such as trastuzumab and FOLFIRI, which are influenced by the presence of specific somatic mutations, indicating a correlation between the variants and treatment response. Oncogenic: The passage identifies somatic mutations in the tumors that are associated with tumor development and progression, particularly noting the likely activating mutation in the ERBB2 p.L755S variant.

Gene→Variant (gene-first): 673:c.1742A>G 2064:c.2264T>C 324:c.4285delC 673:p.Asn581Ser 324:p.Gln1429fs 2064:p.L755S 2064:p.Leu755Ser 673:p.N581S 324:p.Q1429fs

Genes: 673 2064 324

Variants: c.1742A>G c.2264T>C c.4285delC p.Asn581Ser p.Gln1429fs p.L755S p.Leu755Ser p.N581S p.Q1429fs

[Paragraph-level] PMCID: PMC5002925 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Predictive, Oncogenic

Justification: Predictive: The passage discusses the treatment of a patient with advanced colorectal cancer using trastuzumab based on the presence of the ERBB2 p.L755S mutation, indicating a correlation with therapy response. Oncogenic: The mention of the ERBB2 p.L755S mutation as a genetic driver event in the context of advanced colorectal cancer suggests its role in tumor development or progression.

Gene→Variant (gene-first): 2064:p.L755S 673:p.N581S 324:p.Q1429fs

Genes: 2064 673 324

Variants: p.L755S p.N581S p.Q1429fs

[Paragraph-level] PMCID: PMC5002925 Section: RESULTS PassageIndex: 6

Evidence Type(s): Oncogenic, Functional

Justification: Oncogenic: The passage discusses heterozygous somatic mutations, including ERBB2 p.L755S, APC p.Q1429fs, and BRAF p.N518S, which are associated with tumor development and progression, indicating their oncogenic potential. Functional: The passage mentions that the biological effect of the detected mutations was predicted using algorithms, suggesting an alteration in molecular or biochemical function related to these variants.

Gene→Variant (gene-first): 2064:p.L755S 673:p.N518S 673:p.N581S 324:p.Q1429fs

Genes: 2064 673 324

Variants: p.L755S p.N518S p.N581S p.Q1429fs

[Paragraph-level] PMCID: PMC5002925 Section: RESULTS PassageIndex: 3

Evidence Type(s): Predictive, Oncogenic

Justification: Predictive: The passage discusses the treatment response to therapies such as trastuzumab and FOLFIRI, which are influenced by the presence of specific somatic mutations, indicating a correlation between the variants and treatment response. Oncogenic: The passage identifies somatic mutations in the tumors that are associated with tumor development and progression, particularly noting the likely activating mutation in the ERBB2 p.L755S variant.

Gene→Variant (gene-first): 673:c.1742A>G 2064:c.2264T>C 324:c.4285delC 673:p.Asn581Ser 324:p.Gln1429fs 2064:p.L755S 2064:p.Leu755Ser 673:p.N581S 324:p.Q1429fs

Genes: 673 2064 324

Variants: c.1742A>G c.2264T>C c.4285delC p.Asn581Ser p.Gln1429fs p.L755S p.Leu755Ser p.N581S p.Q1429fs