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    BIOMARKER:

    CDH1 mutation

    i
    Other names: CDH1, CD324, UVO, uvomorulin, Cadherin 1, type 1, E-cadherin
    Entrez ID:
    999
    Related biomarkers:
    Expression
    CNA
    24d
    The Recurrent E-Cadherin (CDH1) Mutation c.760G>A Causes Orofacial Clefts but Does Not Predispose to Hereditary Cancer. (PubMed, Genes (Basel))
    This review of 27 mutation carriers, including 3 who were 68, 70, and 77 years of age, indicates that c.760G>A does not confer an increased risk for HDGC. The relevance of differentiating craniofacial from cancer phenotypes in mutation carriers is substantial for precision medicine and for counseling families.
    Journal
    |
    CDH1 (Cadherin 1)
    |
    CDH1 mutation
    1m
    Development of a streamlined NGS-based TCGA classification scheme for gastric cancer and its implications for personalized therapy. (PubMed, J Gastrointest Oncol)
    In the Korean cohort, ICIs were most effective in MSI and EBV cases, showing disease control rates of 100%, compared to 62.9% in GS and 12.5% in CIN subtypes. The NGS method successfully maps the mutational landscape of GC, providing a practical TCGA classification surrogate to optimize patient-specific treatment strategies.
    Journal • Next-generation sequencing • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • ARID1A (AT-rich interaction domain 1A) • CDH1 (Cadherin 1)
    |
    PD-L1 expression • TP53 mutation • PIK3CA mutation • ARID1A mutation • CDH1 mutation
    2ms
    Tumor genomics in young patients with metastatic breast cancer (SABCS 2024)
    In EMBRACE, differences in mutational frequency of several genes were observed by age at MBC diagnosis among patients with recurrent MBC, most notably for HR+/HER2- patients. Lower OS among younger recurrent MBC patients may be driven by these differences, particularly by high frequency of TP53 mutations in this age group. Further investigation of these genes is warranted to elucidate pathways leading to metastasis and to improve survival for young MBC patients.
    Clinical • Tumor mutational burden • BRCA Biomarker • Metastases
    |
    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PGR (Progesterone receptor) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • CDH1 (Cadherin 1) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) • GATA3 (GATA binding protein 3)
    |
    TP53 mutation • BRCA1 mutation • TMB-H • HER-2 negative • PIK3CA mutation • HER-2 mutation • AKT1 mutation • CDH1 mutation
    |
    OncoPanel™ Assay
    2ms
    Structural Variants Affecting CDH1 in Breast Invasive Lobular Carcinoma (SABCS 2024)
    We demonstrate that CDH1 affecting SVs act as drivers of a subset of ILCs. Most of these SVs result in loss of E-cadherin protein expression and a lobular phenotype, akin to CDH1 mutations. ILCs harboring CDH1 SVs were enriched for aggressive histologic features and display a repertoire of genetic alterations resembling that of ILCs with CDH1 mutations.
    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) • CDH1 (Cadherin 1) • NSD3 (Nuclear Receptor Binding SET Domain Protein 3) • RAD21 (RAD21 Cohesin Complex Component)
    |
    HER-2 negative • CDH1 expression • CDH1 mutation
    |
    MSK-IMPACT
    2ms
    Landscape analysis of breast cancer ovarian metastases reveals biology and potential therapeutic targets (SABCS 2024)
    Our study provides the largest comprehensive characterization of ovarian metastases in patients with breast cancer. It not only deepens our understanding of ILC ovarian metastasis but provides the foundation for future studies aimed at improved prevention and treatment of breast cancer metastasis to the ovary.
    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSI (Microsatellite instability) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • RUNX1 (RUNX Family Transcription Factor 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • KMT2C (Lysine Methyltransferase 2C) • CDH1 (Cadherin 1) • JAK3 (Janus Kinase 3) • FOXA1 (Forkhead Box A1) • PI3K (Phosphoinositide 3-kinases)
    |
    TP53 mutation • PIK3CA mutation • ERBB3 mutation • CDH1 mutation • JAK3 mutation
    |
    FoundationOne® CDx
    2ms
    Prevalence of PIK3CA/AKT1/PTEN and other genomic alterations in primary and recurrent tumor tissue: exploratory analysis from the Phase 3 CAPItello-291 clinical trial (SABCS 2024)
    Background Based on the positive results from the CAPItello-291 trial, capivasertib plus fulvestrant is a treatment option for adult patients with HR+/HER2− locally advanced or metastatic breast cancer who have progressed on an endocrine-based regimen and whose tumors harbor one or more alterations in PIK3CA, AKT1, or PTEN. Consistent with the literature, recurrent tissues were enriched for ESR1, BRCA2, GATA3, CDKN2A, and SMAD4 alterations, indicating a potential role for these gene alterations in driving disease recurrence. The PIK3CA/AKT1/PTEN-altered cohort was enriched for CDH1 mutations while the non-altered cohort was enriched for alterations in cell cycle-related genes previously associated with endocrine and cyclin-dependent kinase 4/6 inhibitor resistance.
    Clinical • P3 data • BRCA Biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • CCND1 (Cyclin D1) • BCL6 (B-cell CLL/lymphoma 6) • SMAD4 (SMAD family member 4) • CDH1 (Cadherin 1) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) • GATA3 (GATA binding protein 3)
    |
    PIK3CA mutation • PTEN mutation • ER mutation • AKT1 mutation • CDH1 mutation
    |
    FoundationOne® CDx
    |
    fulvestrant • Truqap (capivasertib)
    3ms
    CHARACTERIZATION OF GENETIC ANCESTRY IN WOMEN DIAGNOSED WITH TRIPLE NEGATIVE BREAST AND HIGH-GRADE SEROSOUS OVARIAN CANCER, HEREDITARY/SPORADIC: IMPLEMENTATION OF A DIAGNOSTIC PANEL (IGCS 2024)
    116 patients with a confirmatory primary diagnosis of TNBC (N= 75) and HGSOC (N= 41) were included. A higher Native American ancestry (NAM) proportion was observed in the hereditary group across the cohort (58% vs 45.2%). Among TNBC patients, hereditary cases exhibited a higher NAM ancestry mean (0.50 (SD, 0.14)).
    Clinical • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • PMS2 (PMS1 protein homolog 2) • CDH1 (Cadherin 1)
    |
    BRCA2 mutation • BRCA1 mutation • ATM mutation • PMS2 mutation • CDH1 mutation
    |
    TruSight Hereditary Cancer Panel
    3ms
    Early Onset and Familial Gastric Cancer Registry (clinicaltrials.gov)
    P=N/A, N=971, Completed, Memorial Sloan Kettering Cancer Center | Active, not recruiting --> Completed
    Trial completion
    |
    CDH1 (Cadherin 1)
    |
    CDH1 mutation
    3ms
    The Gastric Cancer Foundation: A Gastric Cancer Registry (clinicaltrials.gov)
    P=N/A, N=500, Recruiting, Stanford University | Trial primary completion date: May 2023 --> Dec 2025
    Trial primary completion date
    |
    CDH1 (Cadherin 1)
    |
    CDH1 mutation
    3ms
    Large-scale analysis of CDH1 mutations defines a distinctive molecular subset with treatment implications in gastric cancer. (PubMed, NPJ Precis Oncol)
    This is the largest study to investigate the distinct genomic landscape of CDH1-MT GC. Our data indicated GC patients with CDH1 mutations could potentially benefit from agents targeting PARP and Wee1.
    Journal • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • ARID1A (AT-rich interaction domain 1A) • CDK12 (Cyclin dependent kinase 12) • APC (APC Regulator Of WNT Signaling Pathway) • CDH1 (Cadherin 1) • IGF1R (Insulin-like growth factor 1 receptor) • CRKL (CRK Like Proto-Oncogene, Adaptor Protein) • WRN (WRN RecQ Like Helicase) • POT1 (Protection of telomeres 1) • FANCC (FA Complementation Group C)
    |
    TP53 mutation • HER-2 amplification • ARID1A mutation • CDK12 mutation • CDH1 mutation • WRN mutation • CRKL amplification • IGF1R amplification
    3ms
    Disappearing Signet Ring Cell Adenocarcinoma in Gastric Cancer Patients. (PubMed, Ann Surg Oncol)
    These cases allude to the distinct pathways of carcinogenesis in T1a signet ring cell cancers. Potential factors that may underlie the spontaneous regression of these T1a cancers include complete removal at initial biopsy, immune clearance, and lack of survival advantage conferred by signet ring cell genetic alterations in these cases. Given their more indolent behavior at an earlier stage, we suggest that these lesions can be closely followed by endoscopy in select circumstances with thorough disease assessment and an experienced care team.
    Journal
    |
    CDH1 (Cadherin 1) • CTNNA1 (Catenin Alpha 1)
    |
    CDH1 mutation
    3ms
    Phase II Randomized Trial of Bethesda Protocol Compared to Cambridge Method for Detection of Early Stage Gastric Cancer in CDH1 Mutation Carriers (clinicaltrials.gov)
    P2, N=39, Active, not recruiting, National Cancer Institute (NCI) | Recruiting --> Active, not recruiting | N=350 --> 39 | Trial completion date: Dec 2027 --> Dec 2024 | Trial primary completion date: Dec 2026 --> Sep 2024
    Enrollment closed • Enrollment change • Trial completion date • Trial primary completion date
    |
    CDH1 (Cadherin 1)
    |
    CDH1 mutation
    3ms
    Molecular alterations of breast carcinoma: a single-centre experience (ECP 2024)
    Due to the majority of cases in our study being constituted of triple-negative cases, TP53 mutation, which is reported to be more common in these cases in the literature, was observed frequently. Most of the mutations we detected in our study have been reported to be associated with prognostic, predictive, and drug resistance implications, making their identification in breast tumours significant.
    Clinical • BRCA Biomarker
    |
    KRAS (KRAS proto-oncogene GTPase) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • BRCA (Breast cancer early onset) • CDH1 (Cadherin 1)
    |
    TP53 mutation • KRAS mutation • BRCA1 mutation • PIK3CA mutation • PTEN mutation • CDH1 mutation • PIK3CA mutation + PTEN mutation
    |
    BRCA MASTR Plus Dx
    3ms
    A Systematic Review of Surgical and Pathological Outcomes in Patients With a CDH1 Mutation Undergoing Total Gastrectomy. (PubMed, J Surg Oncol)
    Rates of early cancers are high in CDH1 patients undergoing PTG, highlighting the need for improvement in reliable endoscopic surveillance. Although postoperative mortality in this surgical cohort remains low, high rates of postoperative complications warrant careful patient counselling.
    Review • Journal
    |
    CDH1 (Cadherin 1) • CTNNA1 (Catenin Alpha 1)
    |
    CDH1 mutation
    7ms
    Prophylactic gastrectomy (PubMed, Bull Cancer)
    Surgical outcomes seem to be similar to those after gastrectomy for cancer. Prophylactic total gastrectomy is the cornerstone of CGDH management, associated with multidisciplinary follow-up and mammary surveillance in women.
    Review • Journal
    |
    CDH1 (Cadherin 1)
    |
    CDH1 mutation
    8ms
    Molecular landscape and clinical implication of CCNE1-amplified esophagogastric cancer. (PubMed, Cancer Res Commun)
    Real-world survival analysis demonstrated that patients with CCNE1-amplified gastric cancer had worse survival after trastuzumab for HER2-positive tumors, but better survival after immunotherapy. These data suggest that CCNE1-amplified gastric cancer has a distinct molecular and immune profile with important therapeutic implications, and therefore further investigation of CCNE1 amplification as a predictive biomarker is warranted.
    Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • CCNE1 (Cyclin E1) • CDH1 (Cadherin 1)
    |
    PD-L1 expression • HER-2 positive • TP53 mutation • HER-2 amplification • HER-2 mutation • CCNE1 amplification • CCNE1 overexpression • CDH1 mutation • HER-2 amplification + PD-L1 expression
    |
    Herceptin (trastuzumab)
    8ms
    CDH1 methylation analysis in invasive lobular breast carcinomas with and without gene mutation. (PubMed, Virchows Arch)
    Our findings revealed a positive correlation between CDH1 methylation and the presence of TILs (r = 0.5; p-value < 0.05), shedding light on an aspect of breast cancer biology warranting further investigation. These findings challenge CDH1 methylation as a CDH1 inactivation mechanism in ILC and highlight TILs as a potential confounding factor in gene methylation.
    Journal
    |
    CDH1 (Cadherin 1)
    |
    CDH1 mutation
    8ms
    Stool protein mass spectrometry identifies biomarkers for the early detection of diffuse-type gastric cancer. (PubMed, Cancer Prev Res (Phila))
    An exploratory analysis of the HDGC stool microbiome identified features which correlated with patient tumors. Here we provide evidence supporting the potential of analyzing stool biomarkers for the early detection of DGC.
    Journal
    |
    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • CDH1 (Cadherin 1) • DPP4 (Dipeptidyl Peptidase 4) • TPM2 (Tropomyosin 2)
    |
    KRAS G12D • KRAS G12 • CDH1 expression • CDH1 mutation
    8ms
    Integration of pathological criteria and immunohistochemical evaluation for invasive lobular carcinoma diagnosis: recommendations from the European Lobular Breast Cancer Consortium. (PubMed, Mod Pathol)
    The E-cadherin IHC staining pattern was associated with variant allele frequency and likelihood of non-sense mediated RNA decay but not with the type or position of CDH1 mutations. Based on these results, we make recommendations for the indication for E-cadherin staining, choice of antibodies, and their interpretation in order to standardize ILC diagnosis in current pathology practice.
    Journal
    |
    CDH1 (Cadherin 1) • CDH3 (Cadherin 3)
    |
    CDH1 expression • CDH1 mutation
    8ms
    Microenvironment-induced restoration of cohesive growth associated with focal activation of P-cadherin expression in lobular breast carcinoma metastatic to the colon. (PubMed, J Pathol Clin Res)
    The large bowel is a common metastatic site in ILC. In endoscopic colon biopsies, the typical noncohesive growth of ILC may be concealed by microenvironment-induced EPS and conversion to cohesive growth.
    Journal • Metastases
    |
    CDH1 (Cadherin 1) • CDH3 (Cadherin 3)
    |
    CDH1 expression • CDH1 mutation
    9ms
    Synchronous gastric and colon cancers: Important to consider hereditary syndromes and chronic inflammatory disease associations. (PubMed, World J Gastrointest Oncol)
    Genetic and mutational errors and epithelial field defects from chronic inflammatory diseases of the gastrointestinal tract are important when considering synchronous gastric and colonic cancers. We will briefly discuss these in this editorial.
    Journal
    |
    CDH1 (Cadherin 1)
    |
    CDH1 mutation
    9ms
    Genomic and immune microenvironment features influencing chemoimmunotherapy response in gastric cancer with peritoneal metastasis: a retrospective cohort study. (PubMed, Int J Surg)
    This exploratory study comprehensively evaluated clinicopathological, genomic, and immune features and developed a novel prediction model, providing a rational basis for the selection of GC patients with PM for chemoimmunotherapy-involved conversion therapy.
    Retrospective data • Journal • IO biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • CD8 (cluster of differentiation 8) • CDH1 (Cadherin 1) • CD4 (CD4 Molecule) • HLA-DQB1 (Major Histocompatibility Complex, Class II, DQ Beta 1)
    |
    HER-2 mutation • CD8 expression • ERBB3 mutation • CDH1 expression • CDH1 mutation • CTLA4 expression
    9ms
    Mutational landscape of TP53 and CDH1 in gastric cancer. (PubMed, World J Gastrointest Surg)
    Demethylation therapy may assist to postpone the onset and progression of GC. The investigation of TP53 and CDH1 gene mutations in GC allows for the investigation of the relationship between these two gene mutations, as well as providing some basis for evaluating the prognosis of GC patients.
    Journal
    |
    TP53 (Tumor protein P53) • CDH1 (Cadherin 1)
    |
    TP53 mutation • CDH1 mutation
    10ms
    Conditional generative adversarial network driven radiomic prediction of mutation status based on magnetic resonance imaging of breast cancer. (PubMed, J Transl Med)
    Our study establishes cGAN as a viable tool for generating synthetic BC MRIs for mutation status prediction and subtype classification to better characterize the heterogeneity of BC in patients. The synthetic images also have the potential to significantly augment existing MRI data and circumvent issues surrounding data sharing and patient privacy for future BC machine learning studies.
    Journal • MRI
    |
    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • CDH1 (Cadherin 1)
    |
    TP53 mutation • PIK3CA mutation • CDH1 mutation
    10ms
    E-cadherin variants associated with oral facial clefts trigger aberrant cell motility in a REG1A-dependent manner. (PubMed, Cell Commun Signal)
    We provide evidence that E-cadherin variants associated with OFC activate aberrant signalling pathways that support dynamic rearrangements of cells towards improved adaptability to the microenvironment. This proficiency results in abnormal tissue shaping and movement, possibly underlying the development of orofacial malformations.
    Journal
    |
    CDH1 (Cadherin 1) • REG1A (Lithostathine-1-alpha)
    |
    CDH1 mutation
    10ms
    E-cadherin loss drives diffuse-type gastric tumorigenesis via EZH2-mediated reprogramming. (PubMed, J Exp Med)
    We also identified EZH2 as a key mediator promoting CDH1 loss-associated DGAC tumorigenesis. These findings highlight DGAC's molecular diversity and potential for personalized treatment in CDH1-inactivated patients.
    Journal
    |
    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • CDH1 (Cadherin 1)
    |
    KRAS G12D • KRAS G12 • CDH1 mutation
    10ms
    The ETV6-MECOM fusion protein promotes EMT-related properties by repressing the transactivation activity of E-cadherin promoter in K562 leukemia cells. (PubMed, Biochem Biophys Rep)
    ETV6-MECOM induces EMT-related properties by downregulating the transcriptional expression of E-cadherin and repressing its transactivation activity by binding to its core motif -1116TTAAAA-1111 in leukemia K562 cells. These findings could contribute to the development of a therapeutic target for patients with myeloid leukemia characterized by ETV6-MECOM.
    Journal
    |
    ETV6 (ETS Variant Transcription Factor 6) • CDH1 (Cadherin 1) • MECOM (MDS1 And EVI1 Complex Locus) • SNAI2 (Snail Family Transcriptional Repressor 2) • ZEB2 (Zinc Finger E-Box Binding Homeobox 2)
    |
    CDH1 expression • CDH1 mutation • CDH1 overexpression
    10ms
    Advances in Gastric Cancer Surgical Management. (PubMed, Hematol Oncol Clin North Am)
    Better understanding of hereditary gastric cancer and molecular subtypes has led to specialized recommendations for MSI-high tumors and patients with pathogenic CDH1 mutations. In the future, surgical management will support minimally invasive approaches and personalized cancer care based on subtype.
    Review • Journal • MSi-H Biomarker
    |
    CDH1 (Cadherin 1)
    |
    MSI-H/dMMR • CDH1 mutation
    10ms
    CDH1 gene mutation, a challenging surgical topic: Case report and literature review. (PubMed, Int J Surg Case Rep)
    Genetic testing for CDH1 should be carried in high-risk populations. Due to its high penetrance, any person carrying the CDH1 gene should be managed by a prophylactic gastrectomy and D1 lymphadenectomy with close follow up for any future breast neoplasm.
    Clinical • Review
    |
    CDH1 (Cadherin 1)
    |
    CDH1 mutation
    10ms
    Points to consider regarding prophylactic total gastrectomy in germline CDH1 variant carriers. (PubMed, J Surg Oncol)
    However, surgical indication is controversial in some clinical contexts, with possible contraindications. This review discusses points against and in favor of a more aggressive surgical approach for consideration during the decision-making process.
    Review • Journal
    |
    CDH1 (Cadherin 1)
    |
    CDH1 mutation
    10ms
    CDH1 gene as biomarker towards breast cancer prediction. (PubMed, J Biomol Struct Dyn)
    Furthermore, Random forest, K-nearest neighbour and stochastic gradient descent (SGD) algorithms are applied on the derived dataset to classify the types of breast cancer, and to validate our hypothesis regarding the acute role of CDH1 as potential bio marker for breast cancer. Analysis of the mutated CDH1 gene sequences, and their related parameters using aforesaid machine learning techniques clearly establish that CDH1 gene can take the deterministic role in predicting the chances of occurrences of different types of breast cancer with an accuracy of Such an observation opens a new paradigm in diagnostic approach of breast cancer.Communicated by Ramaswamy H. Sarma.
    Journal
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    CDH1 (Cadherin 1)
    |
    CDH1 expression • CDH1 mutation
    10ms
    Clinicopathologic and Genomic Characterization of Breast Histiocytoid Carcinomas (USCAP 2024)
    HC is predominantly lobular phenotype but rare cases can exhibit E-cadherin expression. With ER low+/triple-negative status and low proliferation index, HC may not be responsive to chemotherapy or endocrine therapy, yet frequently recurs or metastasizes. Targeting the PI3K pathway or AR is a potential therapeutic strategy.
    Clinical
    |
    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) • AR (Androgen receptor) • NF1 (Neurofibromin 1) • CDH1 (Cadherin 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
    |
    HER-2 negative • NF1 mutation • CDH1 expression • CDH1 mutation
    |
    Tempus xT Assay
    11ms
    ERBB2-amplified lobular breast carcinoma exhibits concomitant CDK12 co-amplification associated with poor prognostic features. (PubMed, J Pathol Clin Res)
    ERBB2-amplified ILBC is a distinct molecular subgroup with frequent coamplification of CDK12, whereas ERBB2 sequence mutations occur only in ERBB2-unamplified ILBC. CDK12/ERBB2 co-amplification may explain the poor prognosis and therapy resistance of ERBB2-amplified ILBC.
    Journal
    |
    HER-2 (Human epidermal growth factor receptor 2) • CDK12 (Cyclin dependent kinase 12) • CDH1 (Cadherin 1) • SOX10 (SRY-Box 10)
    |
    HER-2 positive • HER-2 overexpression • HER-2 amplification • HER-2 negative • HR negative • CDK12 mutation • CDH1 mutation • CDK12 amplification
    11ms
    Multiparametric prognostic score in early HR+/HER2- breast cancer: Impact of recurrence score, clinical-pathological factors, gene mutations and histology (YIR 2024)
    Use of RS in combination with further clinical and genetic factors improves prognostic ability; however, there is no treatment-independent prognostic model for HR+ HER2- EBC pts. For the first time, we have shown worse prognosis of the ILC high-risk subgroup, associated with distinct biological features.
    Clinical
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • CCND1 (Cyclin D1) • CDH1 (Cadherin 1)
    |
    HER-2 negative • CCND1 amplification • CDH1 mutation • PGR expression
    |
    Oncotype DX Breast Recurrence Score®Test
    11ms
    Mutational separation and clinical outcomes of TP53 and CDH1 in gastric cancer. (PubMed, World J Gastrointest Surg)
    Different somatic mutation patterns in TP53 and CDH1 indicate two major mechanisms of GC.
    Clinical data • Journal
    |
    TP53 (Tumor protein P53) • MSI (Microsatellite instability) • CDH1 (Cadherin 1) • FAT1 (FAT atypical cadherin 1)
    |
    TP53 mutation • CDH1 mutation
    12ms
    Pioneering use of genetic analysis for CDH1 to identify candidates for prophylactic total gastrectomy to prevent hereditary diffuse gastric cancer. (PubMed, eGastroenterology)
    Dr Mark Duncan has applied his experience as a high-volume gastric cancer surgeon to treat not only individual patients, but several generations of patients within a family. This use of prophylactic total gastrectomy is well tolerated by patients and prevents the future development of gastric cancer.
    Journal
    |
    CDH1 (Cadherin 1)
    |
    CDH1 mutation
    12ms
    Early Onset and Familial Gastric Cancer Registry (clinicaltrials.gov)
    P=N/A, N=971, Active, not recruiting, Memorial Sloan Kettering Cancer Center | Trial completion date: Dec 2023 --> Dec 2024 | Trial primary completion date: Dec 2023 --> Dec 2024
    Trial completion date • Trial primary completion date
    |
    CDH1 (Cadherin 1)
    |
    CDH1 mutation
    12ms
    Factors Affecting Recurrence and Survival for Patients with High-Risk Stage II Melanoma. (PubMed, Ann Surg Oncol)
    Traditional histopathologic factors and specific tumor mutations displayed a significant correlation with disease recurrence and survival for patients with high-risk stage II melanoma. This study supported the use of genomic testing of high-risk stage II melanomas for prognostic prediction and risk stratification.
    Journal
    |
    KIT (KIT proto-oncogene, receptor tyrosine kinase) • CDH1 (Cadherin 1)
    |
    KIT mutation • CDH1 mutation
    12ms
    Robotic Vagus-Sparing Total Gastrectomy for CDH1 Gene Mutation Treatment. (PubMed, J Vis Exp)
    This video case report demonstrates the techniques and pitfalls of robotic surgery in terms of the patient positioning and port placement, posterior vagus-preserving dissection, sutured esophagojejunostomy, jejunal pouch formation, and Roux-en-Y reconstruction with a staple-stapled jejunojejunostomy. While these techniques are demonstrated in the case of prophylactic gastrectomy, many of them can be applied to other benign and bariatric foregut and general surgery types.Robotic surgery can facilitate the foregut MIS technique, as described in this case of a vagus-sparing total gastrectomy.
    Journal
    |
    CDH1 (Cadherin 1)
    |
    CDH1 mutation
    almost1year
    ROLo: Crizotinib in Lobular Breast, Diffuse Gastric and Triple Negative Lobular Breast Cancer or CDH1-mutated Solid Tumours (clinicaltrials.gov)
    P2, N=58, Active, not recruiting, Royal Marsden NHS Foundation Trust | Recruiting --> Active, not recruiting | Trial primary completion date: May 2023 --> Jul 2024
    Enrollment closed • Trial primary completion date • Metastases
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • CDH1 (Cadherin 1)
    |
    HER-2 positive • ER positive • HER-2 negative • CDH1 mutation • ER positive + HER-2 negative
    |
    Xalkori (crizotinib) • fulvestrant
    1year
    Development and introduction of methods for risk assessment and diagnosis of hereditary breast cancer in Armenia (ABC 2023)
    A hi-gh percentage of mutations in the sample indicates the relevance of this study. A unified database of frequencies of hereditary mutations in the genes of the DNA repair system for the population of Armenia will allow to assess the risks of hereditary breast cancer in Armenia, draw conclusions and develop appropriate recommendations.
    BRCA Biomarker
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • STK11 (Serine/threonine kinase 11) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • CDK12 (Cyclin dependent kinase 12) • PMS2 (PMS1 protein homolog 2) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • EPCAM (Epithelial cell adhesion molecule) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • FANCL (FA Complementation Group L)
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    TP53 mutation • BRCA2 mutation • BRCA1 mutation • ATM mutation • CDH1 mutation
    1year
    Genetic landscape and PD-L1 expression in Epstein-Barr virus-associated gastric cancer according to the histological pattern. (PubMed, Sci Rep)
    Moreover, the histological pattern of EBVaGCs was significantly associated with the levels of TILs (P = 0.005) and combined positive score (P = 0.027). In conclusion, patients with EBVaGCs with different histological patterns exhibited distinct genetic alteration, PD-L1 expression, and degree of TILs.
    Journal • PD(L)-1 Biomarker • IO biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • CDH1 (Cadherin 1) • MUC6 (Mucin 6)
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    PD-L1 expression • TP53 mutation • HER-2 amplification • PIK3CA mutation • CDH1 mutation • HER-2 amplification + PD-L1 expression