CDH1 mutation

Transcatheter biopsy suggested papillary fibroelastoma, which was confirmed with surgical pathology. This case highlights an atypical presentation of papillary fibroelastoma, which was successfully managed through a multidisciplinary approach.

In ILC, E-cadherin loss promotes hyperactivation of growth factor receptors, in particular insulin-like growth factor 1 receptor, anoikis resistance and synthetic lethality with ROS1 inhibition. These features introduce clinical vulnerabilities that could potentially be exploited to improve outcomes for ILC patients, for whom there are currently limited tailored treatments available.

P2, N=195, Completed, National Cancer Institute (NCI) | Active, not recruiting --> Completed | N=39 --> 195

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.

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.

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.

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.

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.

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.

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)).

P=N/A, N=971, Completed, Memorial Sloan Kettering Cancer Center | Active, not recruiting --> Completed

P=N/A, N=500, Recruiting, Stanford University | Trial primary completion date: May 2023 --> Dec 2025