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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
    5d
    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
    6d
    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
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    CDH1 (Cadherin 1) • CDH3 (Cadherin 3)
    |
    CDH1 expression • CDH1 mutation
    20d
    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
    1m
    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
    1m
    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
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    TP53 (Tumor protein P53) • CDH1 (Cadherin 1)
    |
    TP53 mutation • CDH1 mutation
    2ms
    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
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    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • CDH1 (Cadherin 1)
    |
    TP53 mutation • PIK3CA mutation • CDH1 mutation
    2ms
    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
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    CDH1 (Cadherin 1) • REG1A (Lithostathine-1-alpha)
    |
    CDH1 mutation
    2ms
    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
    2ms
    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
    2ms
    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
    2ms
    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
    2ms
    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
    2ms
    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
    |
    CDH1 (Cadherin 1)
    |
    CDH1 expression • CDH1 mutation
    2ms
    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
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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) • 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
    3ms
    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
    3ms
    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
    3ms
    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
    4ms
    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
    4ms
    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
    4ms
    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
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    KIT (KIT proto-oncogene, receptor tyrosine kinase) • CDH1 (Cadherin 1)
    |
    KIT mutation • CDH1 mutation
    4ms
    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
    4ms
    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
    5ms
    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
    |
    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)
    |
    TP53 mutation • BRCA2 mutation • BRCA1 mutation • ATM mutation • CDH1 mutation
    5ms
    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
    |
    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)
    |
    PD-L1 expression • TP53 mutation • HER-2 amplification • PIK3CA mutation • CDH1 mutation • HER-2 amplification + PD-L1 expression
    6ms
    The ECM and tissue architecture are major determinants of early invasion mediated by E-cadherin dysfunction. (PubMed, Commun Biol)
    Moreover, we validate our findings using a dissipative particle dynamics simulation of epithelial extrusion. Overall, we provide the first evidence that cancer cell invasion is the outcome of defective cell-cell linkages, abnormal interplay with the ECM, and a favourable 3D tissue structure.
    Journal
    |
    CDH1 (Cadherin 1)
    |
    CDH1 mutation
    6ms
    CDH1 mutations predict resistance to neoadjuvant taxane therapy (SABCS 2023)
    In conclusion, mutations in CDH1 predicted resistance to paclitaxel and epirubicin. Our data suggest that CDH1 mutations should be explored further as a predictive biomarker for potential application.
    Clinical
    |
    ER (Estrogen receptor) • CDH1 (Cadherin 1) • GATA3 (GATA binding protein 3)
    |
    ER positive • ER negative • CDH1 mutation • GATA3 mutation
    |
    paclitaxel • epirubicin
    6ms
    Predicting Response to HER2 Tyrosine Kinase Inhibitors and Antibody Drug Conjugates in HER2 Mutant Invasive Lobular Carcinoma Using CRISPR/Cas9 Knock-in Cell lines and Patient-derived Organoids (SABCS 2023)
    We then used them to test neratinib and other TKIs with ADCs, including T-DXd and trastuzumab emtansine (T-DM1). Although the reason for the discrepancies in drug response between ILC cell lines and PDOs is not clear, we hypothesize that response in 3D PDOs might be more faithfully representing response seen in patients. We will generate additional ILC PDOs with knock-in ERBB2 mutations to validate our findings. Irreversible HER2 TKIs, such as neratinib and afatinib, showed synergy with T-DXd in ERBB2 mutant ILC PDOs.
    Preclinical
    |
    HER-2 (Human epidermal growth factor receptor 2) • CDH1 (Cadherin 1)
    |
    HER-2 overexpression • HER-2 amplification • HER-2 mutation • HER-2 S310F • HER-2 V777L • CDH1 mutation
    |
    Gilotrif (afatinib) • Nerlynx (neratinib) • Kadcyla (ado-trastuzumab emtansine) • Enhertu (fam-trastuzumab deruxtecan-nxki)
    6ms
    Genomic characterization of endocrine resistance in ER+HER2+ breast cancers in the POETIC Trial (SABCS 2023)
    While TP53 mutation was generally a predictor of poor response; in HER2-E it paradoxically was associated with a good early response to aromatase inhibitor which warrants further investigation. Ki67 levels in ER+HER2+ showed higher intratumoral heterogeneity in a subset of patients on treatment suggesting the potential of persistent, proliferating cells leading to later recurrence. Our spatial RNA and protein data further observe the intratumoral heterogeneity that identifies pathways for use as potential spatial biomarkers.
    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) • CD20 (Membrane Spanning 4-Domains A1) • CDH1 (Cadherin 1) • CD68 (CD68 Molecule) • FOXP3 (Forkhead Box P3) • CHD4 (Chromodomain Helicase DNA Binding Protein 4) • GATA3 (GATA binding protein 3)
    |
    TP53 mutation • HER-2 negative • PIK3CA mutation • HER-2 mutation • TP53 expression • CDH1 mutation • FOXP3 expression
    |
    nCounter® Breast Cancer 360™ Panel
    6ms
    CDH1 is an Uncommon but Recurrent Tumor Suppressor Gene Mutated in Advanced Prostate Cancer (AMP 2023)
    Prostate cancer patients with CDH1 mutations had long disease courses that were managed aggressively with overall survival that ranged from 2 to 16 years from the time of diagnosis. CDH1 variants are an uncommon but recurrently mutated gene in prostate cancer that overlaps with mutations in TP53 and no other tumor suppressor genes. These findings suggest an alternative mechanism for loss-of-function mutations in advanced prostate cancers.
    Tumor mutational burden • Metastases
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • KMT2C (Lysine Methyltransferase 2C) • CDH1 (Cadherin 1) • SPOP (Speckle Type BTB/POZ Protein)
    |
    TP53 mutation • PTEN mutation • TMB-L • SPOP mutation • CDH1 mutation
    6ms
    Investigation of pathogenic germline variants in gastric cancer and development of "GasCanBase" database. (PubMed, Cancer Rep (Hoboken))
    The findings of this study and the "GasCanBase" database may greatly contribute to our understanding of molecular epidemiology and the development of precise therapeutics for gastric cancer. GasCanBase is available at: https://www.gascanbase.com/.
    Journal
    |
    CDH1 (Cadherin 1)
    |
    CDH1 mutation
    7ms
    Helicobacter pylori Status May Differentiate Two Distinct Pathways of Gastric Adenocarcinoma Carcinogenesis. (PubMed, Curr Oncol)
    The HP+ sporadic GC group appears to proceed through a sequence of HP infection, IM and atrophy before cancer supervenes, and the HP- phenotype appear to omit this sequence. The familial cases may represent a subset with both features, but the natural history strongly resembles that of the HP- group. Two different paths of carcinogenesis may exist locally for sporadic GC. The InImS may also be implicated in prognosis. Identifying these patients will allow for treatment stratification and early diagnosis to improve GC survival.
    Journal
    |
    CDH1 (Cadherin 1)
    |
    APC mutation • CDH1 mutation
    7ms
    Defining features of hereditary lobular breast cancer due to CDH1 with magnetic resonance imaging and tumor characteristics. (PubMed, NPJ Breast Cancer)
    HLBC tumors were smaller than SEER-documented ILC tumors (median 1.40 vs. 2.00 cm; p = 0.002) and had a higher incidence of background lobular carcinoma in situ (88% vs. 1%; p < 0.001) as well as progesterone receptor positivity (95% vs. 81%, p = 0.032). These findings suggest that HLBC is often detected via conventional screening methods as an early-stage hormone receptor-positive tumor, thus the clinical benefit of intensive screening with MRI may be limited to a subset of women with germline CDH1 variants.
    Journal • MRI
    |
    PGR (Progesterone receptor) • CDH1 (Cadherin 1)
    |
    HR positive • CDH1 mutation
    7ms
    Molecular and immune profiling of lobular-enriched versus non-lobular invasive breast cancers (SITC 2023)
    Conclusions Our study demonstrates that the LE cohort exhibited distinct molecular and immunologic features from other breast cancers, including a lower frequency of TP53 alterations, lower PD-L1 expression, lower cellular proliferation, and lower expression of cancer testis antigens. Overall, these findings suggest striking differences in the cellular biology of ILCs but perhaps similar overall immune infiltration to other breast cancer subtypes, which may be important context to consider in future clinical studies.
    PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • CDH1 (Cadherin 1) • CHD1 (Chromodomain Helicase DNA Binding Protein 1)
    |
    PD-L1 expression • TP53 mutation • CDH1 mutation
    |
    PD-L1 IHC 22C3 pharmDx
    7ms
    CDH1 Germline Mutations in Lobular Breast Cancer (clinicaltrials.gov)
    P=N/A, N=421, Active, not recruiting, European Institute of Oncology | Trial completion date: Jun 2023 --> Dec 2023
    Trial completion date
    |
    CDH1 (Cadherin 1)
    |
    CDH1 mutation
    7ms
    Clinical implication of CDH1 mutations in genetic testing for diffuse gastric cancer patients. (PubMed, Oncology)
    We conclude that germline CDH1 genetic testing is indicated only in families meeting the clinical criteria for the HDGC syndrome. This observation suggests that clinical phenotypes that do not clearly fulfill these criteria should not be considered for CDH1 genetic testing.
    Review
    |
    CDH1 (Cadherin 1)
    |
    CDH1 mutation
    8ms
    Laparoscopic prophylactic total gastrectomy with limited lymphadenectomy for CDH1 gene carriers. (PubMed, Surg Endosc)
    This is the largest series, spanning 10 years at a single institution, dedicated solely to a laparoscopic approach for risk-reducing PTG. A laparoscopic approach with limited lymphadenectomy resulted in acceptable surgical and oncologic outcomes. Despite no visible cancer, over half of our patients had foci of early gastric cancer. Therefore, CDH1 carriers should consider laparoscopic PTG.
    Journal
    |
    CDH1 (Cadherin 1)
    |
    CDH1 mutation
    8ms
    Concurrent predictors of an immune responsive tumor microenvironment within tumor mutational burden-high breast cancer. (PubMed, Front Oncol)
    Along with MSI-H and PD-L1+, several biomarkers, including B2M mutation and CD274 amplification, may help predict ICI benefit amongst TMB-H tumors. Co-occurring biomarkers within TMB-H breast cancer warrant evaluation in larger cohorts for response or resistance to ICI to develop composite predictive biomarkers in MBC.
    Journal • Tumor mutational burden • PD(L)-1 Biomarker • MSi-H Biomarker • IO biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • CD8 (cluster of differentiation 8) • B2M (Beta-2-microglobulin) • CDH1 (Cadherin 1)
    |
    PD-L1 expression • TMB-H • MSI-H/dMMR • HER-2 negative • HER-2 mutation • TMB-L • PD-L1 amplification • B2M mutation • CDH1 mutation
    |
    VENTANA PD-L1 (SP142) Assay • MI Tumor Seek™
    9ms
    Genomic Characterization of Aggressive Breast Cancer in Younger Women. (PubMed, Ann Surg Oncol)
    BCs in young women are associated with shorter survival and more aggressive genomic features, including mutations in TP53 and BRCA1, and amplifications in ERBB2 and CDK12. These findings have the potential to impact clinical trial design and treatment.
    Journal • BRCA Biomarker
    |
    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) • CDK12 (Cyclin dependent kinase 12) • KMT2C (Lysine Methyltransferase 2C) • CDH1 (Cadherin 1) • PPM1D (Protein Phosphatase Mg2+/Mn2+ Dependent 1D)
    |
    TP53 mutation • BRCA1 mutation • HER-2 amplification • PIK3CA mutation • CDK12 mutation • CDH1 mutation • CDK12 amplification
    9ms
    Advanced Gastric Signet Ring Cell Carcinoma in a 37-Year-Old Breast Cancer Survivor: A Rising Problem (ACG 2023)
    It is important to understand the impact of these risk factors as advanced-stage prognosis remains poor and there remains no standard of care for gastric cancer screening in the United States, placing the decision in the hands of the individual clinician. Figure: Initial CT abdomen/pelvis showing severe distention of the stomach concerning for gastric outlet obstruction
    Metastases
    |
    CDH1 (Cadherin 1)
    |
    CDH1 mutation
    9ms
    The Mysterious Case of Polyposis in CDH1 (ACG 2023)
    Whether or not CPUE in a patient with CDH1 is truly CPUE is unclear. We emphasize 1) the importance of CRC screening in patients with CDH1 mutation and 2) need for further study of the relationship between CDH1 and CRC.
    Clinical
    |
    CDH1 (Cadherin 1)
    |
    CDH1 mutation