[Paper-level Aggregated] PMCID: PMC7081042

Evidence Type(s): Oncogenic

Summary: Mutation: L755S | Summary: The L755S mutation in HER2 is associated with resistance to trastuzumab, indicating its role in oncogenic processes related to tumor progression.

Evidence Type: Oncogenic Mutation: V842I | Summary: The V842I mutation in HER2 is linked to resistance to trastuzumab, suggesting its contribution to oncogenic behavior in tumor development.

Evidence Type: Oncogenic Mutation: K753I | Summary: The K753I mutation in HER2 is associated with resistance to trastuzumab, indicating its role in oncogenic processes related to tumor progression.

Evidence Type: Oncogenic Mutation: D769Y | Summary: The D769Y mutation in HER2 is linked to resistance to trastuzumab, suggesting its contribution to oncogenic behavior in tumor development.

Gene→Variant (gene-first): ERBB2(2064):L755S ERBB2(2064):V842I EGFR(1956):K753I ERBB2(2064):D769Y

Genes: ERBB2(2064) EGFR(1956)

Variants: L755S V842I K753I D769Y

[Paper-level Aggregated] PMCID: PMC7081042

Evidence Type(s): Predictive

Summary: Mutation: S310F | Summary: The S310F mutation in HER2 is associated with favorable outcomes and a good response to anti-HER2 therapy, indicating its predictive value for treatment efficacy.

Evidence Type: Predictive Mutation: S310Y | Summary: The S310Y mutation in HER2 is linked to favorable outcomes and a good response to anti-HER2 therapy, suggesting it may serve as a predictive biomarker for treatment.

Evidence Type: Predictive Mutation: R678Q | Summary: The R678Q mutation in HER2 appears to correlate with favorable outcomes and a good response to anti-HER2 therapy, indicating its predictive potential for treatment response.

Evidence Type: Predictive Mutation: D769H | Summary: The D769H mutation in HER2 is associated with favorable outcomes and a good response to anti-HER2 therapy, supporting its role as a predictive marker for treatment efficacy.

Evidence Type: Predictive Mutation: I767M | Summary: The I767M mutation in HER2 is linked to favorable outcomes and a good response to anti-HER2 therapy, suggesting its predictive value for treatment effectiveness.

Evidence Type: Predictive Mutation: L755S | Summary: The L755S mutation in HER2 may confer benefits when receiving neratinib or afatinib, indicating its predictive role in treatment response.

Evidence Type: Predictive Mutation: D769Y | Summary: The D769Y mutation in HER2 could confer benefits when receiving neratinib or afatinib, suggesting its predictive value for treatment outcomes.

Gene→Variant (gene-first): ERBB2(2064):S310F ERBB2(2064):S310Y ERBB2(2064):R678Q ERBB2(2064):D769H ERBB2(2064):I767M ERBB2(2064):L755S ERBB2(2064):D769Y

Genes: ERBB2(2064)

Variants: S310F S310Y R678Q D769H I767M L755S D769Y

[Paragraph-level] PMCID: PMC7081042 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Predictive, Oncogenic

Summary: Evidence Type: Predictive | Mutation: S310F | Summary: The S310F mutation in HER2 is associated with favorable outcomes and a good response to anti-HER2 therapy, indicating its predictive value for treatment efficacy. Evidence Type: Predictive | Mutation: S310Y | Summary: The S310Y mutation in HER2 is linked to favorable outcomes and a good response to anti-HER2 therapy, suggesting it may serve as a predictive biomarker for treatment. Evidence Type: Predictive | Mutation: R678Q | Summary: The R678Q mutation in HER2 appears to correlate with favorable outcomes and a good response to anti-HER2 therapy, indicating its predictive potential for treatment response. Evidence Type: Predictive | Mutation: D769H | Summary: The D769H mutation in HER2 is associated with favorable outcomes and a good response to anti-HER2 therapy, supporting its role as a predictive marker for treatment efficacy. Evidence Type: Predictive | Mutation: I767M | Summary: The I767M mutation in HER2 is linked to favorable outcomes and a good response to anti-HER2 therapy, suggesting its predictive value for treatment effectiveness. Evidence Type: Predictive | Mutation: L755S | Summary: The L755S mutation in HER2 may confer benefits when receiving neratinib or afatinib, indicating its predictive role in treatment response. Evidence Type: Predictive | Mutation: D769Y | Summary: The D769Y mutation in HER2 could confer benefits when receiving neratinib or afatinib, suggesting its predictive value for treatment outcomes. Evidence Type: Oncogenic | Mutation: L755S | Summary: The L755S mutation in HER2 is associated with resistance to trastuzumab, indicating its role in oncogenic processes related to tumor progression. Evidence Type: Oncogenic | Mutation: V842I | Summary: The V842I mutation in HER2 is linked to resistance to trastuzumab, suggesting its contribution to oncogenic behavior in tumor development. Evidence Type: Oncogenic | Mutation: K753I | Summary: The K753I mutation in HER2 is associated with resistance to trastuzumab, indicating its role in oncogenic processes related to tumor progression. Evidence Type: Oncogenic | Mutation: D769Y | Summary: The D769Y mutation in HER2 is linked to resistance to trastuzumab, suggesting its contribution to oncogenic behavior in tumor development.

Gene→Variant (gene-first): 2064:D769H 2064:D769Y 2064:I767M 1956:K753I 2064:L755S 2064:R678Q 2064:S310F 2064:S310Y 2064:V842I

Genes: 2064 1956

Variants: D769H D769Y I767M K753I L755S R678Q S310F S310Y V842I

[Paper-level Aggregated] PMCID: PMC7081042

Evidence Type(s): Oncogenic, Predictive, Prognostic

Justification: Oncogenic: The text indicates that mutations in the HER2 gene, such as S310F, S310Y, R678Q, D769H, and I767M, are associated with favorable outcomes and good responses to anti-HER2 therapy, suggesting their role in cancer progression. Predictive: The mention of specific HER2 mutations (e.g., L755S, D769Y) influencing the efficacy of treatments like neratinib and afatinib indicates their potential as predictive biomarkers for treatment response in HER2-positive breast cancer patients. Prognostic: The text discusses the association of HER2 overexpression with an aggressive phenotype and lower survival rates, indicating that certain mutations may have prognostic implications for patient outcomes.

Gene→Variant (gene-first): ERBB2(2064):D769H ERBB2(2064):D769Y ERBB2(2064):I767M EGFR(1956):K753I ERBB2(2064):L755S ERBB2(2064):R678Q ERBB2(2064):S310F ERBB2(2064):S310Y ERBB2(2064):V842I

Genes: ERBB2(2064) EGFR(1956)

Variants: D769H D769Y I767M K753I L755S R678Q S310F S310Y V842I

[Paragraph-level] PMCID: PMC7081042 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Predictive, Diagnostic, Oncogenic

Justification: Predictive: The passage discusses how certain HER2 mutations, such as S310F, S310Y, R678Q, D769H, and I767M, correlate with favorable outcomes and good responses to anti-HER2 therapy, indicating their predictive value for treatment efficacy. Diagnostic: The passage mentions the identification of HER2 SNPs in HER2-positive breast cancer patients and their relationship with clinical outcomes, suggesting that these variants can be used to classify or define the disease subtype. Oncogenic: The passage indicates that somatic mutations in HER2 are linked to resistance to anti-HER2 therapy, suggesting that these mutations contribute to tumor development or progression.

Gene→Variant (gene-first): 2064:D769H 2064:D769Y 2064:I767M 1956:K753I 2064:L755S 2064:R678Q 2064:S310F 2064:S310Y 2064:V842I

Genes: 2064 1956

Variants: D769H D769Y I767M K753I L755S R678Q S310F S310Y V842I

[Paragraph-level] PMCID: PMC7081042 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Predictive, Diagnostic, Oncogenic

Justification: Predictive: The passage discusses how certain HER2 mutations, such as S310F, S310Y, R678Q, D769H, and I767M, correlate with favorable outcomes and good responses to anti-HER2 therapy, indicating their predictive value for treatment efficacy. Diagnostic: The passage mentions the identification of HER2 SNPs in HER2-positive breast cancer patients and their relationship with clinical outcomes, suggesting that these variants can be used to classify or define the disease subtype. Oncogenic: The passage indicates that somatic mutations in HER2 are linked to resistance to anti-HER2 therapy, suggesting that these mutations contribute to tumor development or progression.

Gene→Variant (gene-first): 2064:D769H 2064:D769Y 2064:I767M 1956:K753I 2064:L755S 2064:R678Q 2064:S310F 2064:S310Y 2064:V842I

Genes: 2064 1956

Variants: D769H D769Y I767M K753I L755S R678Q S310F S310Y V842I