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    BIOMARKER:

    PIK3CA mutation + ER positive

    i
    Other names: Platelet Derived Growth Factor Receptor Alpha, Platelet-Derived Growth Factor Receptor Alpha Polypeptide, Alpha-Type Platelet-Derived Growth Factor Receptor, CD140 Antigen-Like Family Member A, CD140a Antigen, PDGF-R-Alpha, PDGFR-2, PDGFR2, Alpha Platelet-Derived Growth Factor Receptor, Platelet-Derived Growth Factor Alpha Receptor, PDGFR-Alpha, RHEPDGFRA, CD140A, BCR, BCR Activator Of RhoGEF And GTPase, BCR, RhoGEF And GTPase Activating Protein, Breakpoint Cluster Region Protein, Renal Carcinom
    Entrez ID:
    2099; 5290
    Related biomarkers:
    Expression
    Mutation
    CNA
    Fusion
    Others
    4years
    Predictive Role of TP53, PIK3CA and MLL2 in ER+ HER2+ Breast Bancer: Biomarker Analysis of Neo-ALL-IN [NCT 01275859]. (PubMed, Anticancer Res)
    Mutations in TP53 and PIK3CA hotspot at exon 9 may be potential negative predictors of ER+HER2+ BC treated with neoadjuvant letrozole and lapatinib, while MLL2 inactivating mutation might confer therapeutic benefit in these patients.
    Clinical Trial,Phase II • Journal
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • KMT2D (Lysine Methyltransferase 2D) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2)
    |
    TP53 mutation • ER positive • PIK3CA mutation • KMT2D mutation • PIK3CA mutation + ER positive • EGFR positive • PIK3CA exon 9 mutation + HR positive
    |
    lapatinib • letrozole
    4years
    Targeting HER2 heterogeneity in early-stage breast cancer. (PubMed, Curr Opin Oncol)
    Although much of what is discussed currently remains investigational, it is clear that HER2+ breast cancer is a complex disease comprising different entities. Future strategies to escalate or de-escalate treatment in early-stage HER2+ disease should consider other biomarkers beyond HER2 and estrogen receptor status, including intrinsic subtype, HER2 levels, and TILs; and evaluate different treatment strategies among patients with estrogen receptor-positive/HER2+ and estrogen receptor-negative/HER2+ diseases.
    Journal
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
    |
    HER-2 positive • ER positive • HER-2 negative • PIK3CA mutation • HER-2 expression • PIK3CA mutation + ER positive • ER positive + HER-2 negative • ER negative + HER-2 positive • ER positive + HER-2 positive • TILs
    4years
    [VIRTUAL] Targeted next-generation sequencing of circulating tumor DNA identifies mutations in ESR1 and TP53 as the main predictors of progression-free and overall survival in patients with metastatic estrogen receptor-positive, HER2-negative breast cancer (DGHO 2020)
    Mutations in ESR1 and TP53 are the main predictors of progression free and overall survival in oestrogen receptor-positive, HER2-negative MBC patients.
    Clinical • Next-generation sequencing
    |
    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog)
    |
    TP53 mutation • KRAS mutation • ER positive • HER-2 negative • PIK3CA mutation • PTEN mutation • ER mutation • HRAS mutation • PIK3CA mutation + ER positive • AR mutation • ER positive + HER-2 negative • PIK3CA mutation + HRAS mutation • PIK3CA mutation + PTEN mutation + KRAS mutation
    4years
    [VIRTUAL] Targeted next-generation sequencing of circulating tumor DNA identifies mutations in ESR1 and TP53 as the main predictors of progression-free and overall survival in patients with metastatic estrogen receptor-positive, HER2-negative breast cancer (DGHO 2020)
    Mutations in ESR1 and TP53 are the main predictors of progression free and overall survival in oestrogen receptor-positive, HER2-negative MBC patients.
    Clinical • Next-generation sequencing
    |
    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog)
    |
    TP53 mutation • KRAS mutation • ER positive • HER-2 negative • PIK3CA mutation • PTEN mutation • ER mutation • HRAS mutation • PIK3CA mutation + ER positive • AR mutation • ER positive + HER-2 negative • PIK3CA mutation + HRAS mutation • PIK3CA mutation + PTEN mutation + KRAS mutation
    4years
    [VIRTUAL] Targeted next-generation sequencing of circulating tumor DNA identifies mutations in ESR1 and TP53 as the main predictors of progression-free and overall survival in patients with metastatic estrogen receptor-positive, HER2-negative breast cancer (DGHO 2020)
    Mutations in ESR1 and TP53 are the main predictors of progression free and overall survival in oestrogen receptor-positive, HER2-negative MBC patients.
    Clinical • Next-generation sequencing
    |
    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog)
    |
    TP53 mutation • KRAS mutation • ER positive • HER-2 negative • PIK3CA mutation • PTEN mutation • ER mutation • HRAS mutation • PIK3CA mutation + ER positive • AR mutation • ER positive + HER-2 negative • PIK3CA mutation + HRAS mutation • PIK3CA mutation + PTEN mutation + KRAS mutation
    4years
    [VIRTUAL] Targeted next-generation sequencing of circulating tumor DNA identifies mutations in ESR1 and TP53 as the main predictors of progression-free and overall survival in patients with metastatic estrogen receptor-positive, HER2-negative breast cancer (DGHO 2020)
    Mutations in ESR1 and TP53 are the main predictors of progression free and overall survival in oestrogen receptor-positive, HER2-negative MBC patients.
    Clinical • Next-generation sequencing
    |
    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog)
    |
    TP53 mutation • KRAS mutation • ER positive • HER-2 negative • PIK3CA mutation • PTEN mutation • ER mutation • HRAS mutation • PIK3CA mutation + ER positive • AR mutation • ER positive + HER-2 negative • PIK3CA mutation + HRAS mutation • PIK3CA mutation + PTEN mutation + KRAS mutation
    over4years
    Induction of PIK3CA alterations during neoadjuvant letrozole may improve outcome in postmenopausal breast cancer patients. (PubMed, Breast Cancer Res Treat)
    Considerable heterogeneity was identified both among patients and between pre- and posttreatment samples. PIK3CA has the potential to be a predictive biomarker. To further assess the implications of a treatment related altered PIK3CA mutation profile, more data are needed.
    Clinical • Journal
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ER (Estrogen receptor) • ALK (Anaplastic lymphoma kinase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • RAF1 (Raf-1 Proto-Oncogene Serine/Threonine Kinase)
    |
    KRAS mutation • ER positive • PIK3CA mutation • PIK3CA mutation + ER positive • EGFR mutation + KRAS mutation
    |
    letrozole
    over4years
    The molecular genetic make-up of male breast cancer. (PubMed, Endocr Relat Cancer)
    MDM2 amplifications were frequent (11%), correlated with protein overexpression (p=0.001) and predicted poor outcome (p=0.007). In conclusion, despite similarities in the genomic landscape between MBC and smFBC, MBC is a molecularly unique and heterogeneous disease requiring its own clinical trials and treatment guidelines.
    Journal • BRCA Biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PGR (Progesterone receptor) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • MDM2 (E3 ubiquitin protein ligase)
    |
    HER-2 positive • TP53 mutation • BRCA2 mutation • ER positive • PIK3CA mutation • HRD • MDM2 amplification • PIK3CA amplification • PIK3CA mutation + ER positive • ER positive + HER-2 positive
    over4years
    The Genomic Landscape of Mucinous Breast Cancer. (PubMed, J Natl Cancer Inst)
    Clonal decomposition analysis of the mucinous and ductal components independently microdissected from five mixed MCBs revealed that they are clonally related and evolve following clonal selection or parallel evolution. Our findings indicate that MCB represents a genetically distinct ER-positive/HER2-negative form of BC.
    Journal
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • KMT2C (Lysine Methyltransferase 2C)
    |
    TP53 mutation • ER positive • HER-2 negative • PIK3CA mutation • PIK3CA mutation + ER positive • ER positive + HER-2 negative
    over4years
    Genomic, transcriptomic, epigenetic, and immune profiling of mucinous breast cancer. (PubMed, J Natl Cancer Inst)
    Compared to IDC, MuBC had a lower genomic instability (P = .01, two-sided Mann-Whitney U test), and a decreased prevalence of PIK3CA mutations (39.7% in IDC vs. 6.7% in MuBC, P = .01 in ICGC; and 34.8% vs 0.0%, P = .02 in TCGA, two-sided Fisher's exact test). Finally, our report identifies aberrant DNA methylation of MUC2 as a possible cause of extracellular production of mucin in MuBC.
    Journal
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MUC2 (Mucin 2)
    |
    ER positive • HER-2 negative • PIK3CA mutation • PIK3CA mutation + ER positive • ER positive + HER-2 negative • TILs