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    TEST:
    FoundationOne® CDx

    Company:
    Roche
    Type:
    FDA Approved
    Related tests:
    2d
    The genomic landscape of cutaneous squamous cell carcinoma in Japan. (PubMed)
    TMB-high (≥10 mut/Mb) was observed in 27% (n = 41) of the patients, with a median age of 75 years for this group. TMB-low (<10 mut/Mb) was observed in 73% (n = 111) of the patients; their median age was 67 years.
    Journal • Tumor mutational burden
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    FoundationOne® CDx
    7d
    Comprehensive genomic profiling of primary bladder mucinous adenocarcinoma, a rare genitourinary cancer: A case report. (PubMed, Urol Case Rep)
    She underwent treatment with paclitaxel-ifosfamide-cisplatin (TIP). After two cycles of TIP therapy, FoundationOne CDx, a comprehensive genomic profiling test, was performed, revealing variants in ATM, SMAD4, BRD4, and NOTCH3. These genomic profiling test results may lead to the development of novel therapeutic agents for primary bladder mucinous adenocarcinoma.
    Journal
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    SMAD4 (SMAD family member 4) • NOTCH3 (Notch Receptor 3) • BRD4 (Bromodomain Containing 4)
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    FoundationOne® CDx
    |
    cisplatin • paclitaxel • ifosfamide
    7d
    Berzosertib and Irinotecan in Treating Patients With Progressive, Metastatic, or Unresectable TP53 Mutant Gastric or Gastroesophageal Junction Cancer (clinicaltrials.gov)
    P2, N=14, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Jul 2024 --> Dec 2025
    Trial completion date • Combination therapy • Metastases
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    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • MSI (Microsatellite instability)
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    HER-2 positive • TP53 mutation • MSI-H/dMMR
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    FoundationOne® CDx
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    irinotecan • berzosertib (M6620)
    16d
    Adrenocortical carcinoma with circulating tumor DNA analysis at post-operative recurrence: a case report with review of literature. (PubMed, Endocr J)
    Post-operatively, adjuvant chemotherapy with mitotane was commenced because of histologically high-grade ACC...At both time-points, CTNNB1 mutations consistent with the primary tumor were observed in ctDNA, with the allelic ratio increasing over time from 8% to 27%. In conclusion, monitoring the ctDNA allelic ratio may be useful for evaluating disease progression in advanced ACC.
    Review • Journal • Circulating tumor DNA
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    CTNNB1 (Catenin (cadherin-associated protein), beta 1)
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    CTNNB1 mutation
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    FoundationOne® CDx
    |
    Lysodren (mitotane)
    19d
    LUNG-MAP Sub-Study: Targeted Treatment for RET Fusion-Positive Advanced Non-Small Cell Lung Cancer (A LUNG-MAP Treatment Trial) (clinicaltrials.gov)
    P2, N=124, Active, not recruiting, SWOG Cancer Research Network | Trial completion date: Jan 2025 --> Dec 2025 | Trial primary completion date: Jan 2025 --> Jun 2025
    Trial completion date • Trial primary completion date • Metastases
    |
    EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • MET (MET proto-oncogene, receptor tyrosine kinase) • RET (Ret Proto-Oncogene) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS)
    |
    BRAF V600E • KRAS mutation • EGFR mutation • BRAF V600 • EGFR T790M • RET fusion • MET exon 14 mutation • ALK fusion • ROS1 fusion • MET mutation
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    FoundationOne® CDx
    |
    Retevmo (selpercatinib)
    21d
    Genomic Analysis of Advanced Phyllodes Tumors Using Next-Generation Sequencing and Their Chemotherapy Response: A Retrospective Study Using the C-CAT Database. (PubMed, Medicina (Kaunas))
    One patient with a high tumor mutational burden (37/Mb) responded to pembrolizumab... Our findings suggest distinct molecular patterns in phyllodes tumors compared to other soft tissue sarcomas, with potential implications for treatment selection. The identification of specific genetic alterations associated with treatment resistance may guide therapeutic decision-making, while the presence of actionable mutations in select cases indicates potential opportunities for targeted therapy approaches.
    Retrospective data • Journal • Next-generation sequencing • Tumor mutational burden • PD(L)-1 Biomarker • Metastases
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    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MSH6 (MutS homolog 6) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    TP53 mutation • TMB-H
    |
    FoundationOne® CDx • OncoGuide™ NCC Oncopanel System
    |
    Keytruda (pembrolizumab)
    27d
    Association between homologous recombination deficiency and time to treatment failure to platinum-based chemotherapy for pancreatic cancer by using the C-CAT database. (PubMed, J Gastroenterol)
    Our findings suggest that HRR-related genetic abnormalities might be predictive of TTF in platinum-based chemotherapy for PC.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
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    HRD • CDK12 mutation • CHEK2 mutation • BRIP1 mutation • RAD51C mutation • BARD1 mutation
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    FoundationOne® CDx • OncoGuide™ NCC Oncopanel System
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    gemcitabine • 5-fluorouracil • albumin-bound paclitaxel • irinotecan • leucovorin calcium
    28d
    Analysis of cancer multigene panel testing for osteosarcoma in pediatric and adults using the center for cancer genomics and advanced therapeutics database in Japan. (PubMed)
    "Precision medicine for rare tumors still poses challenges. In this Japanese cohort, 42.2 % of high-grade OSs had potentially actionable alterations per CKDB. Concurrent gene amplifications of KIT, KDR, and PDGFRA at 4q12, and VEGFA and CCND3 at 6p12-21, might offer promising therapeutic options for patients with recurrent/metastatic OS resistant to conventional chemotherapy."
    Journal
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    FoundationOne® CDx • FoundationOne® Liquid CDx • MSK-IMPACT • OncoGuide™ NCC Oncopanel System
    1m
    Molecular characterization of adult non-glioblastoma central nervous system (CNS) tumors to identify potential targettable alterations (AIOM 2024)
    4 pts received TT at recurrence, within clinical trials: one with grade 3 meningioma and ALK rearrangement treated with alectinib, one with PTCH1 mutant medulloblastoma treated with vismodegib, and two with high TMB treated with nivolumab/ipilumumab. The incidence of targettable molecular alterations in adult CNS tumor patients was lower than in GBM. Nevertheless, in a few selected cases TT have the potential to increase treatment options at recurrence and improve outcomes.
    Clinical • Tumor mutational burden • BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker
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    BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MET (MET proto-oncogene, receptor tyrosine kinase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • RET (Ret Proto-Oncogene) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • FGFR1 (Fibroblast growth factor receptor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • POLE (DNA Polymerase Epsilon) • MDM2 (E3 ubiquitin protein ligase) • PTCH1 (Patched 1) • NF2 (Neurofibromin 2) • BRCA (Breast cancer early onset) • NTRK (Neurotrophic receptor tyrosine kinase)
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    BRAF V600E • BRCA2 mutation • BRCA1 mutation • TMB-H • PIK3CA mutation • MET amplification • ALK rearrangement • FGFR1 amplification • POLE mutation • NF1 mutation • MDM2 amplification • RET mutation • PTCH1 mutation • NF2 mutation • ROS1 mutation • BRCA mutation • ALK rearrangement + PIK3CA mutation • PTCH1 rearrangement • NTRK fusion
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    FoundationOne® CDx
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    Opdivo (nivolumab) • Yervoy (ipilimumab) • Alecensa (alectinib) • Erivedge (vismodegib)
    1m
    Prognostic impact of concomitant genomic alterations in patients affected by FGFR2-positive locally advanced unresectable or metastatic cholangiocarcinoma treated with pemigatinib as second or further line of systemic treatment: molecular analysis of the real-world Italian PEMIREAL and French PEMIBIL cohort studies (AIOM 2024)
    Our results seem to confirm the negative prognostic role in terms of PFS of GA in BAP1 and CDKN2A genes in patients affected by locally advanced or metastatic FGFR2-positive CCA treated with pemigatinib in a real-world setting.
    Clinical • Real-world evidence • Real-world • Metastases
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    TP53 (Tumor protein P53) • FGFR2 (Fibroblast growth factor receptor 2) • PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • BAP1 (BRCA1 Associated Protein 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    FGFR2 fusion • CDKN2A mutation
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    FoundationOne® CDx
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    Pemazyre (pemigatinib)
    1m
    Advanced Intrahepatic Cholangiocarcinoma (iCCA): Investigating Co-Molecular Alterations (AIOM 2024)
    The FGFR and IDH-1 pathways are the primary targets for therapy, with FGFR-2 and IDH-1 inhibitors, such as Pemigatinib and Ivosidenib respectively, already available on the market. This prospective study validates the prevalence of mutations documented in the literature and underscores the significance of NGS in presenting supplementary therapeutic avenues. Moreover, we demonstrated the role of other potential targets co-expressed with FGFR2 or IDH1 which could represent a crucial opportunity for novel combinations or sequences therapies.
    BRCA Biomarker • Metastases
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    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • MTAP (Methylthioadenosine Phosphorylase) • BAP1 (BRCA1 Associated Protein 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • NTRK (Neurotrophic receptor tyrosine kinase) • CA 19-9 (Cancer antigen 19-9)
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    TP53 mutation • KRAS mutation • IDH1 mutation • FGFR2 mutation • FGFR2 fusion • CDKN2A mutation • BAP1 mutation • FGFR2 expression • FGFR2b expression
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    FoundationOne® CDx
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    Pemazyre (pemigatinib) • Tibsovo (ivosidenib)
    1m
    PIK3CA mutations in endometrial cancer: a pre-planned biomarker analysis from the phase II MITO END-3 study of carboplatin and paclitaxel with or without avelumab in advanced or recurrent endometrial cancer (AIOM 2024)
    The frequent alterations of the PI3K pathway in gynecological cancers could emerge as new treatment target. Our data confirm the high frequency of PIK3CA mutations establishing EC as an ideal candidate for testing of PI3K inhibitors regardless of the TCGA classification. Moreover, these data confirm that other targetable mutations are present also in MSS EC group thus suggesting that new target agents should be explored.
    P2 data • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker • Metastases
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    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • POLE (DNA Polymerase Epsilon)
    |
    TP53 mutation • MSI-H/dMMR • PIK3CA mutation • TP53 wild-type • PIK3CA H1047R • PTEN mutation • ARID1A mutation • POLE mutation • PIK3CA E545K • PIK3CA E545 • PIK3CA E542 • PIK3CA H1047L • PIK3CA mutation + PTEN mutation • PIK3CA C420R • PIK3CA E545A • PIK3CA E545G • PIK3CA Q546 • PIK3CA Q546R
    |
    FoundationOne® CDx
    |
    carboplatin • paclitaxel • Bavencio (avelumab)
    1m
    PTEN alteration as a predictor of second-line efficacy in patients with recurrent IDHwt-glioblastoma (rGBM) (AIOM 2024)
    Nitrosoureas (NS) such as lomustine and fotemustine and antiangiogenic drugs such as regorafenib(Reg) and bevacizumab (Bev) are all treatment options for rGBM. We concluded that pathogenic PTEN alteration may be a predictor of poor efficacy of regorafenib and lomustine in rGBM patients. However, a prospective study with a larger population is needed to better define the role of pTEN in these patient populations.
    Clinical
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    PTEN (Phosphatase and tensin homolog) • MGMT (6-O-methylguanine-DNA methyltransferase)
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    PTEN mutation • IDH wild-type
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    FoundationOne® CDx
    |
    Avastin (bevacizumab) • Stivarga (regorafenib) • lomustine • Muphoran (fotemustine)
    1m
    A novel machine learning model integrating clinical and molecular data to predict response to second line treatment in recurrent IDHwtglioblastoma (AIOM 2024)
    Background : Nitrosoureas (lomustine/fotemustine) and antiangiogenic drugs (bevacizumab or regorafenib) are second-line treatment options for patients with recurrent IDHwt-glioblastoma (rGBM). The multi-classification ML model developed in this study was able to identify clinical and molecular signatures of recurrent glioblastoma patients responding to specific second-line treatment with bevacizumab or regorafenib or nitrosoureas.
    Clinical • Machine learning
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    EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MTAP (Methylthioadenosine Phosphorylase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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    TP53 mutation • EGFR mutation • PTEN mutation • IDH wild-type • MTAP mutation
    |
    FoundationOne® CDx
    |
    Avastin (bevacizumab) • Stivarga (regorafenib) • lomustine • Muphoran (fotemustine)
    1m
    Tissue-based Next Generation Sequencing (NGS) for Patients with Advanced Solid Tumors: the experience of Verona University Hospital (AIOM 2024)
    Our study provides an example of implementation of molecular profiling in an academic pre-screening program. Further analysis will investigate treatment matching rates, drug access schemes, and their impact on treatment efficacy and survival.
    Clinical • Next-generation sequencing • BRCA Biomarker • Metastases
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    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) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • FGFR2 (Fibroblast growth factor receptor 2) • PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1)
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    BRAF V600E • KRAS mutation • BRCA2 mutation • BRCA1 mutation • EGFR mutation • KRAS G12C • HER-2 amplification • PIK3CA mutation • BRAF V600 • NTRK1 fusion • PTEN mutation • KIT mutation • FGFR2 mutation • RET mutation • MET mutation • KRAS G12 • ESR1 mutation • NTRK1 mutation • BRAF amplification
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    FoundationOne® CDx • TruSight Oncology 500 Assay
    1m
    Liquid biopsy-based comprehensive genomic profiling captures tumor heterogeneity and identifies cancer vulnerabilities in patients with RAS/BRAFV600E wild type metastatic colorectal cancer in the CAPRI 2-GOIM trial (AIOM 2024)
    Materials and The phase II CAPRI 2-GOIM trial investigates the efficacy and safety of biomarkerdriven, cetuximab-based, sequence of three treatment lines in mCRC... Baseline plasma-based comprehensive genomic profiling is feasible with high concordance with tissue-based analysis. Liquid biopsy allows identification of misdiagnosed RAS/BRAF alterations and the ultra-selection of pts, which could benefit from anti-EGFR therapies. Finally, potentially actionable gene alterations were found in half of the pts.
    Clinical • Late-breaking abstract • Liquid biopsy • Metastases • Biopsy
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    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • NF1 (Neurofibromin 1) • RAS (Rat Sarcoma Virus)
    |
    BRAF V600E • KRAS mutation • HER-2 amplification • NRAS mutation • BRAF V600 • PTEN mutation • BRAF wild-type • NF1 mutation • EGFR amplification + ERBB2 amplification
    |
    FoundationOne® CDx
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    Erbitux (cetuximab)
    1m
    Negative hyperselection and mechanisms of acquired resistance to first-line chemotherapy plus anti-EGFR in pMMR RAS/BRAF wild-type (wt) metastatic colorectal cancer (mCRC) patients (pts): a translational analysis of the TRIPLETE trial (AIOM 2024)
    TRIPLETE is a phase III trial where 435 pts with RAS/BRAF wt – per local assessment – mCRC were randomized to receive first-line FOLFOX/ panitumumab (pan) or mFOLFOXIRI/pan... In contrast to previous data, negative hyperselection both through tissue and plasma analysis failed to demonstrate a prognostic role among pMMR RAS/BRAF wt mCRC pts treated with first-line chemotherapy plus pan. The confounding effect of the associated chemotherapy is a potential explanation for this finding. Tissue and plasma analyses at baseline failed to provide fully concordant results.
    Clinical • Preclinical • Metastases
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    BRAF (B-raf proto-oncogene) • MAP2K1 (Mitogen-activated protein kinase kinase 1)
    |
    BRAF V600E • MSI-H/dMMR • BRAF V600 • BRAF wild-type • RAS mutation • RAS wild-type
    |
    FoundationOne® CDx • Oncomine™ Pan-Cancer Cell-Free Assay • Oncomine Focus Assay
    |
    5-fluorouracil • Vectibix (panitumumab) • leucovorin calcium
    1m
    First results from the Italian cholangiocarcinoma dataset (ANITA): extended molecular profiling (EMP), access to targeted treatment (TT) and clinical characterization of FGFR2- rearranged and IDH1-mutated advanced biliary tract cancers (BTC) (AIOM 2024)
    Among pts with EMP available, 64.2% had intrahepatic cholangiocarcinoma and 69.8% received CT1 (36.1% cisplatinum-gemcitabine). Despite a broader availability of EMP in advanced BTC in recent years, access to TT remains suboptimal even in referral Institutions. Our results demonstrate TT administration as a pivotal positive prognostic factor in a real-world setting, whilst FGFR2 or IDH1 alterations did not act as prognostic determinants per-se. Therefore, strategies aiming at improving the rate of patients receiving TT are warranted.
    Clinical • Metastases
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    FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)
    |
    IDH1 mutation • FGFR2 mutation • FGFR2 fusion • IDH1 R132
    |
    FoundationOne® CDx
    |
    cisplatin • gemcitabine
    1m
    Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project. (PubMed, BJC Rep)
    This study revealed valuable findings for the clinical care of metastatic prostate cancer. Especially, predictive factors such as HRR defect in mCSPC should be validated in the future.
    Journal • Tumor mutational burden • Circulating tumor DNA • Metastases
    |
    TMB (Tumor Mutational Burden) • HRD (Homologous Recombination Deficiency)
    |
    AR mutation • AR amplification
    |
    FoundationOne® CDx • FoundationOne® Liquid CDx
    1m
    Therapeutic vulnerabilities and pan-cancer landscape of BRAF class III mutations in epithelial solid tumors. (PubMed, BJC Rep)
    Tumors harboring BRAF class III (BRAF vIII) mutations comprise a novel subset with distinct genomic heterogeneity. BRAF vIII mutations may sensitize tumors to anti-EGFR treatments. BRAF vIII alterations show significantly less co-occurrence with alterations that predict resistance to anti-EGFR agents. Rare tumors with limited therapy options should be screened for BRAF vIII mutations as they may benefit from anti-EGFR agents.
    Journal • Pan tumor
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    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog)
    |
    KRAS mutation • BRAF mutation
    |
    FoundationOne® CDx
    1m
    Genomic alterations associated with early-stage disease and early recurrence in patients with colorectal cancer. (PubMed, Oncologist)
    Early-stage CRC patients can have distinct genomic profiles and CGP in this population can help expand access to targeted therapies.
    Journal • Tumor mutational burden • BRCA Biomarker • MSi-H Biomarker
    |
    BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • RNF43 (Ring Finger Protein 43)
    |
    BRAF V600E • MSI-H/dMMR • BRAF V600 • RNF43 mutation
    |
    FoundationOne® CDx
    1m
    Circulating Tumor DNA (ctDNA) Testing in TALAPRO-2 Complements Tumor Testing to Gain a Greater Understanding of the Metastatic Castration-Resistant Prostate Cancer (mCRPC) Mutational Landscape (AMP 2024)
    Introduction: TALAPRO-2 (NCT03395197) demonstrated that first-line talazoparib + enzalutamide significantly improved radiographic progression-free survival versus placebo + enzalutamide for patients with metastatic castration-resistant prostate cancer (mCRPC). These results are supportive of the ability of F1LCDx to sensitively detect alterations in HRR genes, and the likely overall modest impact of CHiP in calling HRR gene alteration status in this study. These results support the complementary benefits of ctDNA testing to tumor tissue testing in assessing current disease alteration status, particularly AR.
    BRCA Biomarker • PARP Biomarker • Circulating tumor DNA • Metastases
    |
    BRCA2 (Breast cancer 2, early onset) • AR (Androgen receptor) • HRD (Homologous Recombination Deficiency) • DNMT3A (DNA methyltransferase 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • CDK12 (Cyclin dependent kinase 12) • ERG (ETS Transcription Factor ERG) • TMPRSS2 (Transmembrane serine protease 2)
    |
    BRCA2 mutation
    |
    FoundationOne® CDx • FoundationOne® Liquid CDx
    |
    Talzenna (talazoparib) • Xtandi (enzalutamide)
    1m
    Comparative Analysis of Variant Reporting and HRD Performance: Evaluating AVENIO Tumor Tissue CGP Automated Assay Against F1CDx Assay and PGDx elio Test (AMP 2024)
    The AVENIO CGP Assay demonstrated high agreement with 2 established CGP tests, F1CDx and PGDx, in variant reporting, and closely aligned with F1CDx in HRDsig analysis across various tissue types. These results highlight the assay's reliability and demonstrate its utility in translational research.
    Tumor mutational burden
    |
    HER-2 (Human epidermal growth factor receptor 2) • ALK (Anaplastic lymphoma kinase) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • HRD (Homologous Recombination Deficiency)
    |
    HER-2 amplification • HRD • ALK rearrangement • RET rearrangement • HRD signature
    |
    FoundationOne® CDx • AVENIO Tumor Tissue CGP Kit • PGDx elio™ tissue complete assay
    1m
    Analytical Validation of a Homologous Recombination Deficiency Signature (HRDsig) in Pan-Tumor Tissue Samples (AMP 2024)
    The analytical validation results demonstrate the high analytical concordance compared to an independent HRD biomarker, low false positive rate, high reproducibility, and robustness to interfering substances of HRDsig calling.
    Pan tumor
    |
    HRD (Homologous Recombination Deficiency)
    |
    HRD • HRD signature
    |
    FoundationOne® CDx
    1m
    AVENIO Tumor Tissue CGP Automated Assay: End-to-End Solution with High Performance on NextSeq 500/550 (AMP 2024)
    Across several studies, the AVENIO Tumor Tissue CGP Automated Assay with sequencing analysis on NextSeq has demonstrated high sample pass rates, high variant-calling agreement compared to F1CDx, and robust performance in variant detection. The assay also maintains strong performance with a wide range of DNA sample inputs. This "Assay with NextSeq" workflow provides users the flexibility to select an NGS sequencing platform based on sample throughput needs, thus enhancing operational efficiency.
    Tumor mutational burden
    |
    FoundationOne® CDx • AVENIO Tumor Tissue CGP Kit
    1m
    Evaluation of Ancestry-Associated Bias in Tumor Mutational Burden Calculation in the TruSight Oncology 500 Platform (AMP 2024)
    Because no significant bias was identified in this limited cohort, an ancestry-based calibration constant or normalization procedure cannot be systematically applied. However, the TMB calling algorithm used by TSO500 relies upon population databases. Therefore, the underlying variants and calculations used to determine TMB should be manually evaluated on a case-by-case basis, particularly for tumors with TMBs close to treatment thresholds in patients of ancestries underrepresented in population databases.
    Tumor mutational burden • IO Companion diagnostic • IO biomarker
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    TMB (Tumor Mutational Burden)
    |
    TMB-H
    |
    FoundationOne® CDx • TruSight Oncology 500 Assay
    1m
    A phase I-III, multicenter study evaluating the efficacy and safety of multiple therapies in cohorts of patients with resectable stage I-III non-small cell lung cancer, selected according to biomarker status (ChiCTR2400090972)
    P2, N=150, Not yet recruiting, Guangdong Provincial People's Hospital(Guangdong Academy of Medical Sciences); Guangdong Provincial People's Hospital(Guangdong Academy of Medical Sci
    New P2 trial
    |
    ALK (Anaplastic lymphoma kinase)
    |
    ALK fusion
    |
    FoundationOne® CDx
    |
    Alecensa (alectinib)
    1m
    A Phase 1/2 Study to Evaluate the Safety and Efficacy of MK-2870 Monotherapy or in Combination With Other Anticancer Agents in Gastrointestinal Cancers (ChiCTR2400089007)
    P2, N=130, Not yet recruiting, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology; Union Hospital, Tongji Medical College, Huazhong University of
    New P2 trial • Combination therapy
    |
    MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • BRCA (Breast cancer early onset) • CD4 (CD4 Molecule)
    |
    MSI-H/dMMR • BRCA mutation • MSH6 expression
    |
    FoundationOne® CDx
    |
    5-fluorouracil • sacituzumab tirumotecan (MK-2870)
    1m
    Age-, sex-, and grade-associated molecular differences in a multi-institutional cohort of choroid plexus tumors (SNO 2024)
    This study provides comprehensive genomic profiling of CPTs, highlighting distinct genetic alterations associated with different histological grades and patient demographics. These findings may inform future research and therapeutic strategies targeting specific molecular pathways in CPTs.
    Clinical
    |
    TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • TERT (Telomerase Reverse Transcriptase) • MYCN (MYCN Proto-Oncogene BHLH Transcription Factor) • DAXX (Death-domain associated protein)
    |
    TP53 mutation • PTEN mutation • MYCN amplification • TERT mutation • TERT promoter mutation
    |
    FoundationOne® CDx
    1m
    Current status of cancer genomic profiling (CGP) tests in brain tumor treatment - complementing brain tumor pathological diagnosis with CGP- (SNO 2024)
    Molecular diagnostics through CGP testing served as an aid in diagnosis according to WHO2021. Cases where drug suggestions were feasible underwent treatment with targeted molecular therapies and checkpoint inhibitor. We experienced cases where hereditary cancer syndromes such as Lynch syndrome were diagnosed through the detection of germline pathogenic variants.
    BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • MSH6 (MutS homolog 6)
    |
    BRAF V600E • TMB-H • BRAF V600 • IDH1 R132H • TERT mutation • IDH wild-type • IDH1 R132 • IDH mutation + BRAF V600E
    |
    FoundationOne® CDx • OncoGuide™ NCC Oncopanel System
    1m
    Marjolin's Ulcer: Comprehensive Genomic Profiling Reveals Potentially Actionable Biomarkers and Mutational Similarity to HPV(–) Vulvar Squamous Cell Carcinoma (ASDP 2024)
    Overall, muSCC shows similar genomic alterations and TMB to HPV(–) vSCCs. CGP of inflammation-associated SCCs may be important to more fully inform therapeutic options and stratification in clinical trials.
    Tumor mutational burden
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    EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NOTCH1 (Notch 1) • CCND1 (Cyclin D1) • FAT1 (FAT atypical cadherin 1) • CASP8 (Caspase 8)
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    TP53 mutation
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    FoundationOne® CDx
    2ms
    Potential predictive biomarkers for a fibroblast growth factor receptor (FGFR) inhibitor: Phase 1b trial of tasurgratinib (E7090) with endocrine therapies (ET) for ER+, HER2+ recurrent/metastatic breast cancer (BC) resistant to CDK4/6 inhibitors (SABCS 2024)
    Part 1 included treatment with fulvestrant (FUL) 500 mg + E7090 (105 or 140 mg) or exemestane (EXE) 25 mg + E7090 (105 or 140 mg). These results emphasize that FGFR pathway activation evaluated with mRNA expression of selected genes at BL—rather than FGFR gene abnormalities—is a key molecular determinant for sensitivity to E7090, an FGFR inhibitor. Future validation of these biomarkers is necessary in a larger population of people with ER+/HER2− BC.
    P1 data • Metastases
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    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) • FGFR1 (Fibroblast growth factor receptor 1) • FGFR (Fibroblast Growth Factor Receptor) • CCND1 (Cyclin D1) • FGF19 (Fibroblast growth factor 19) • FGF3 (Fibroblast growth factor 3) • FGF4 (Fibroblast growth factor 4)
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    ER mutation • FGFR1 expression
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    FoundationOne® CDx • nCounter® PanCancer Pathways Panel
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    fulvestrant • exemestane • Tasfygo (tasurgratinib)
    2ms
    Clinicogenomic landscape and function of PIK3CA, AKT1, and PTEN mutations in breast cancer (SABCS 2024)
    Background The AKT inhibitor capivasertib was recently approved in the 2L+ setting for patients (pts) with hormone receptor-positive metastatic breast cancer with alterations in PIK3CA, AKT1, and/or PTEN...However, one-third of patients have variants beyond E542, E545, and H1047 with less certainty about targetability. The preponderance of rare PIK3CA mutations and co-occurrences between PIK3CA, AKT1, and PTEN with genes outside the PI3K pathway merits functional investigation.
    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) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • CDH1 (Cadherin 1) • SOX2 • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1)
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    TP53 mutation • HR positive • HER-2 negative • PIK3CA mutation • PIK3CA H1047R • PTEN mutation • PIK3CA E545K • PIK3CA E542K • AKT1 mutation • PIK3CA E545 • PIK3CA H1047 • PIK3CA E542
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    FoundationOne® CDx
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    Truqap (capivasertib)
    2ms
    CDH1 genotype exploration in phenotype-first approach with hereditary lobular breast cancer syndrome (SABCS 2024)
    Conclusions. In this cohort study, P/LP germline CDH1 variants were identified in women not fulfilling the classic clinical criteria for HDGC screening, suggesting that detection of these variants may suggest a novel approach to test women with LBC with early age at diagnosis and/or positive family history of BC.
    BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDH1 (Cadherin 1)
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    FoundationOne® CDx
    2ms
    Mapping the Genomic Landscape: Comprehensive Profiling of Diverse Histological Types of Breast Cancer (SABCS 2024)
    Despite the limited number of cases in some histological types, this study revealed genomic characterizations among many histological types of BC. This information will provide an important basis for considering genome-based precision medicine in the future.
    Tumor mutational burden • BRCA Biomarker • MSi-H Biomarker
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    ER (Estrogen receptor) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • NTRK (Neurotrophic receptor tyrosine kinase)
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    BRCA2 mutation • TMB-H • MSI-H/dMMR • NTRK fusion
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    FoundationOne® CDx • OncoGuide™ NCC Oncopanel System
    2ms
    Targeting clinically advanced breast cancer with conjugated and unconjugated HER2 antibodies: Does copy number matter? (SABCS 2024)
    For HER2+ aBC (HER2 IHC 3+ or 2+/ISH+), 1L standard of care includes unconjugated HER2 antibodies trastuzumab and pertuzumab (HP) in combination with chemotherapy...For some targeted therapies, including MET inhibitor capmatinib, the magnitude of genomic copy number (CN) gains predict benefit... In a cohort of real-world aBC pts treated with HER2 antibody therapies, HER2 CN ratio was significantly associated with clinical outcomes. For unconjugated antibodies, pts with a HER2 CN ratio of <5 had significantly shorter TTD, PFS and OS. Future work should explore whether these pts may benefit from therapy escalation (e.g.
    Clinical • Metastases
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    FoundationOne® CDx
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    Perjeta (pertuzumab) • Enhertu (fam-trastuzumab deruxtecan-nxki) • Tabrecta (capmatinib)
    2ms
    Genomic and transcriptomic analyses of residual invasive triple-neg breast cancer after neoadjuvant chemotherapy in prospective MIRINAE trial (a randomized phase II trial of adjuvant atezolizumab + capecitabine versus capecitabine; KCSG-BR18-21). (SABCS 2024)
    TIL-high tumors were associated with immune-enriched cancer including BLIA and TME subtypes. Ongoing analysis of invasive disease-free survival as the primary endpoint in each arm of MIRINAE trial and the role of atezolizumab in association with genomic features will provide deeper insights into the role of ICIs as adjuvant therapy.
    Clinical • P2 data • BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • AR (Androgen receptor) • HRD (Homologous Recombination Deficiency) • CD8 (cluster of differentiation 8) • PALB2 (Partner and localizer of BRCA2) • IFNG (Interferon, gamma) • LAG3 (Lymphocyte Activating 3) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • CXCL9 (Chemokine (C-X-C motif) ligand 9) • CD4 (CD4 Molecule) • CXCL13 (Chemokine (C-X-C motif) ligand 13) • IRF4 (Interferon regulatory factor 4) • CD3D (CD3d Molecule) • GZMK (Granzyme K) • NDRG1 (N-Myc Downstream Regulated 1)
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    TP53 mutation • BRCA1 mutation • PIK3CA mutation • PALB2 mutation • PIK3R1 mutation
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    FoundationOne® CDx • Prosigna™ Breast Cancer Prognostic Gene Signature Assay
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    Tecentriq (atezolizumab) • capecitabine
    2ms
    Pembrolizumab Monotherapy for a Patient with Lynch Syndrome (LS) and Stage 2 Triple-negative Breast Cancer (TNBC): A Clinical Vignette (SABCS 2024)
    This is a unique case of a patient who carries two pathogenic variants in genes associated with LS (MSH6 and MSH3), who developed metastatic recurrent rectal adenocarcinoma, as well as synchronously diagnosed stage 2 TNBC, with a complete clinical response in breast cancer to pembrolizumab. This case highlights the significant relationship between TMB and its utility as a predictive indicator of response to immunotherapy. It confirms prior studies suggesting that it is a promising biomarker, with the limitation that high TMB is rare in TNBC.
    Clinical • Tumor mutational burden • BRCA Biomarker • MSi-H Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
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    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • MSH3 (MutS Homolog 3)
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    TMB-H • MSI-H/dMMR • PIK3CA mutation • MSH6 expression
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    FoundationOne® CDx
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    Keytruda (pembrolizumab)
    2ms
    Genomic Landscape in Advanced Breast Cancer Across Different Genomic Ancestries (SABCS 2024)
    The distribution of genomic alterations is consistent across breast cancer subtypes, regardless of genomic ancestry. These findings highlight the critical need for equitable genomic testing access for all patient populations.
    Metastases
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    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) • BRCA1 (Breast cancer 1, early onset) • PTEN (Phosphatase and tensin homolog) • FGFR1 (Fibroblast growth factor receptor 1) • RB1 (RB Transcriptional Corepressor 1) • ARID1A (AT-rich interaction domain 1A) • NF1 (Neurofibromin 1) • CCND1 (Cyclin D1) • FGF19 (Fibroblast growth factor 19) • CDK12 (Cyclin dependent kinase 12) • CDH1 (Cadherin 1) • FGF3 (Fibroblast growth factor 3) • NOTCH2 (Notch 2) • NSD3 (Nuclear Receptor Binding SET Domain Protein 3) • RAD21 (RAD21 Cohesin Complex Component) • GATA3 (GATA binding protein 3) • MAP2K4 (Mitogen-Activated Protein Kinase Kinase 4)
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    HER-2 positive • HER-2 amplification • HER-2 negative
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    FoundationOne® CDx
    2ms
    Analytical comparison of tissue-based next-generation sequencing assays for the detection of PIK3CA, AKT1, and PTEN tumor alterations in breast cancer (SABCS 2024)
    Further improvement on detection of PTEN structural and copy number alterations is needed for some assays in order to maximise patient identification for capivasertib in combination with fulvestrant. These data can help clinicians make informed decisions regarding suitable diagnostic tests to determine patient eligibility for breast cancer therapies.
    Next-generation sequencing
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    HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • AKT1 (V-akt murine thymoma viral oncogene homolog 1)
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    HER-2 positive • HR positive • HER-2 negative • EGFR positive • HR positive + HER-2 negative
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    FoundationOne® CDx • TruSight Oncology 500 Assay • Oncomine™ Comprehensive Assay v3M • AVENIO Tumor Tissue CGP Kit • oncoReveal™ Core LBx
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    fulvestrant • Truqap (capivasertib)
    2ms
    Real-World Molecular Profiling After CDK4/6 Inhibition in Advanced Breast Cancer: Analysis of the SOLTI-1903 HOPE Study (SABCS 2024)
    Over two-thirds of pts progressing on CDK4/6i present with ESCAT I-II level alterations detected via tumor or liquid biopsy. Notably, 15-25% of these pts exhibit cooccurring targetable alterations. In our study, the most frequently targeted alteration was PIK3CA mut, due to lack of approval for targeted therapies for other ESCAT I-II alterations in Spain during the study period.
    Clinical • Real-world evidence • BRCA Biomarker • Real-world • Metastases
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    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) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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    TP53 mutation • BRCA2 mutation • BRCA1 mutation • HER-2 negative • PIK3CA mutation • PTEN mutation • AKT1 mutation
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    FoundationOne® CDx • Guardant360® CDx
    2ms
    Prevalence of actionable genomic alterations (GA) and predictive value of tumor mutational burden (TMB) for immune checkpoint inhibitor (ICI) effectiveness in HR(+)HER2(-) metastatic breast cancer (MBC) (SABCS 2024)
    Background: Pembrolizumab, an anti-PD1 antibody ICI is an FDA-approved option for patients with HR(+)HER2(-) MBC who have exhausted standard of care options and have high TMB (≥10 mut/mb, FoundationOne®CDx)... About 70% of TBx harbor at least one GA with established clinical utility. Pts with TMB10+ vs. TMB<10 had more favorable PFS and rwOS on ICI.
    Checkpoint inhibition • Tumor mutational burden • BRCA Biomarker • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker • Metastases
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    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • HRD (Homologous Recombination Deficiency) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • PALB2 (Partner and localizer of BRCA2) • NTRK (Neurotrophic receptor tyrosine kinase)
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    BRCA2 mutation • BRCA1 mutation • TMB-H • MSI-H/dMMR • PIK3CA mutation • HRD • PALB2 mutation • HRD + BRCA1 mutation • AKT1 mutation • HRD signature • BRCA1 fusion
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    FoundationOne® CDx
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    Keytruda (pembrolizumab)