[Paper-level Aggregated] PMCID: PMC3923676

Evidence Type(s): Functional

Summary: Mutation: G C | Summary: The G C missense mutations in the DNAH5 gene alter the molecular function of the dynein protein, which is part of the microtubule-associated motor protein complex.

Evidence Type: Functional Mutation: E384X | Summary: The E384X mutation results in nearly complete loss of function of the ERRFI1 protein, as indicated by the allele-specific expression data from the RNASeq analysis. This alteration in molecular function is significant in the context of the patient's tumor.

Gene→Variant (gene-first): DNAH5(1767):G C BRCA1(672):E384X

Genes: DNAH5(1767) BRCA1(672)

Variants: G C E384X

[Paper-level Aggregated] PMCID: PMC3923676

Evidence Type(s): Oncogenic

Summary: Mutation: E384X | Summary: The E384X mutation in ERRFI1 is described as a somatic loss of function mutation that inactivates the gene, contributing to tumor development and progression, particularly in advanced cholangiocarcinoma and in the context of the patient's metastatic, recurrent/refractory SIC. The mutation acts as a negative regulator of EGFR and suggests nearly complete loss of function of ERRFI1 in the tumor, indicating its role in cancer progression.

Gene→Variant (gene-first): BRCA1(672):E384X

Genes: BRCA1(672)

Variants: E384X

[Paper-level Aggregated] PMCID: PMC3923676

Evidence Type(s): Predictive

Summary: Mutation: E384X | Summary: The E384X mutation is associated with a robust disease regression in a patient treated with erlotinib, indicating its potential role in predicting response to EGFR kinase inhibitors.

Gene→Variant (gene-first): BRCA1(672):E384X

Genes: BRCA1(672)

Variants: E384X

[Paragraph-level] PMCID: PMC3923676 Section: RESULTS PassageIndex: 16

Evidence Type(s): Oncogenic, Functional

Summary: Evidence Type: Oncogenic | Mutation: E384X | Summary: The E384X mutation in ERRFI1 is described as a novel loss of function mutation that contributes to tumor development in the patient's metastatic, recurrent/refractory SIC. The evidence suggests nearly complete loss of function of ERRFI1 in the tumor, indicating its role in cancer progression. Evidence Type: Functional | Mutation: E384X | Summary: The E384X mutation results in nearly complete loss of function of the ERRFI1 protein, as indicated by the allele-specific expression data from the RNASeq analysis. This alteration in molecular function is significant in the context of the patient's tumor.

Gene→Variant (gene-first): 672:E384X

Genes: 672

Variants: E384X

[Paragraph-level] PMCID: PMC3923676 Section: RESULTS PassageIndex: 6

Evidence Type(s): Functional

Summary: Evidence Type: Functional | Mutation: G C | Summary: The G C missense mutations in the DNAH5 gene are noted to alter the molecular function of the dynein protein, which is part of the microtubule-associated motor protein complex.

Gene→Variant (gene-first): 1767:G C

Genes: 1767

Variants: G C

[Paragraph-level] PMCID: PMC3923676 Section: RESULTS PassageIndex: 3

Evidence Type(s): Oncogenic

Summary: Evidence Type: Oncogenic | Mutation: E384X | Summary: The E384X variant in ERRFI1 is described as a negative regulator of EGFR and is detected in a tumor, suggesting its contribution to tumor development or progression.

Gene→Variant (gene-first): 672:E384X

Genes: 672

Variants: E384X

[Paragraph-level] PMCID: PMC3923676 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Oncogenic, Predictive

Summary: Evidence Type: Oncogenic | Mutation: E384X | Summary: The E384X mutation in ERRFI1 is described as a somatic mutation that inactivates the gene, contributing to tumor development and progression, particularly in the context of advanced cholangiocarcinoma. Evidence Type: Predictive | Mutation: E384X | Summary: The E384X mutation is associated with a robust disease regression in a patient treated with erlotinib, indicating its potential role in predicting response to EGFR kinase inhibitors.

Gene→Variant (gene-first): 672:E384X

Genes: 672

Variants: E384X

[Paper-level Aggregated] PMCID: PMC3923676

Evidence Type(s): Oncogenic, Predictive

Justification: Oncogenic: The E384X mutation in ERRFI1 is described as a loss of function mutation that leads to nearly complete loss of function, suggesting its role in tumorigenesis by negatively regulating EGFR activation. Predictive: The presence of the E384X mutation in ERRFI1 was associated with rapid and robust disease regression when treated with erlotinib, indicating its potential as a predictive biomarker for response to EGFR inhibitors.

Gene→Variant (gene-first): BRCA1(672):E384X

Genes: BRCA1(672)

Variants: E384X

[Paragraph-level] PMCID: PMC3923676 Section: RESULTS PassageIndex: 16

Evidence Type(s): Oncogenic, Functional

Justification: Oncogenic: The passage discusses a novel loss of function mutation (E384X) in ERRFI1 that is associated with a patient's metastatic tumor, indicating that this somatic variant contributes to tumor development or progression. Functional: The passage mentions nearly complete loss of function of ERRFI1 due to the E384X mutation, suggesting that this variant alters the molecular or biochemical function of the protein.

Gene→Variant (gene-first): 672:E384X

Genes: 672

Variants: E384X

[Paragraph-level] PMCID: PMC3923676 Section: RESULTS PassageIndex: 6

Evidence Type(s): None

Justification: Not enough information in this passage.

Gene→Variant (gene-first): 1767:G C

Genes: 1767

Variants: G C

[Paragraph-level] PMCID: PMC3923676 Section: RESULTS PassageIndex: 3

Evidence Type(s): Oncogenic, Predictive

Justification: Oncogenic: The variant E384X in ERRFI1 is described as being overexpressed in a tumor, indicating its potential role in tumor development or progression. Predictive: The passage discusses the therapeutic relevance of FGFR2 fusions and their treatment with FGFR inhibitors, suggesting a correlation with response to therapy.

Gene→Variant (gene-first): 672:E384X

Genes: 672

Variants: E384X

[Paragraph-level] PMCID: PMC3923676 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Predictive, Oncogenic

Justification: Predictive: The passage discusses the use of erlotinib, an EGFR kinase inhibitor, in a patient with the ERRFI1 E384X mutation, noting rapid and robust disease regression, indicating a correlation between the variant and response to therapy. Oncogenic: The E384X variant in ERRFI1 is described as a somatic mutation that inactivates a negative regulator of EGFR activation, suggesting its contribution to tumor development or progression.

Gene→Variant (gene-first): 672:E384X

Genes: 672

Variants: E384X

[Paragraph-level] PMCID: PMC3923676 Section: RESULTS PassageIndex: 16

Evidence Type(s): Oncogenic, Functional

Justification: Oncogenic: The passage discusses a novel loss of function mutation (E384X) in ERRFI1 that is associated with a patient's metastatic tumor, indicating that this somatic variant contributes to tumor development or progression. Functional: The passage mentions nearly complete loss of function of ERRFI1 due to the E384X mutation, suggesting that this variant alters the molecular or biochemical function of the protein.

Gene→Variant (gene-first): 672:E384X

Genes: 672

Variants: E384X

[Paragraph-level] PMCID: PMC3923676 Section: RESULTS PassageIndex: 6

Evidence Type(s): None

Justification: Not enough information in this passage.

Gene→Variant (gene-first): 1767:G C

Genes: 1767

Variants: G C

[Paragraph-level] PMCID: PMC3923676 Section: RESULTS PassageIndex: 3

Evidence Type(s): Oncogenic, Predictive

Justification: Oncogenic: The variant E384X in ERRFI1 is described as being overexpressed in a tumor, indicating its potential role in tumor development or progression. Predictive: The passage discusses the therapeutic relevance of FGFR2 fusions and their treatment with FGFR inhibitors, suggesting a correlation with response to therapy.

Gene→Variant (gene-first): 672:E384X

Genes: 672

Variants: E384X

[Paragraph-level] PMCID: PMC3923676 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Predictive, Oncogenic

Justification: Predictive: The passage discusses the use of erlotinib, an EGFR kinase inhibitor, in a patient with the ERRFI1 E384X mutation, noting rapid and robust disease regression, indicating a correlation between the variant and response to therapy. Oncogenic: The E384X variant in ERRFI1 is described as a somatic mutation that inactivates a negative regulator of EGFR activation, suggesting its contribution to tumor development or progression.

Gene→Variant (gene-first): 672:E384X

Genes: 672

Variants: E384X