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Biology subjects

Kavuri, S. M.

Publications and source records attributed to Kavuri, S. M..

3 recordsLinked to original sources

P95-HER2 promotes metastatic progression by biasing MRTFA dependent signaling

Naturally occurring isoforms of the proto-oncogene Erb-B2 Receptor Tyrosine Kinase 2 (ERBB2, HER2) incite unique pathways of tumor progression in mouse models of breast cancer. Although each isoform has been shown to progress to metastasis, the N-terminally truncated isoform (p95) was previously shown to be biased toward early distant dissemination prior to detection. Here we show how HER2 isoforms differentially promote go-or-grow phenotypes through biased utilization of tyrosine autophosphorylation sites in the intracellular tail of HER2. Fluorescently barcoded humanized full-length HER2 (WT), exon-16 splice HER2 isoform (d16), and p95 expressing tumor cell lines were derived from HER2 Crainbow mice, then utilized for a series of functional assays including proliferation, tumor growth rate, cell motility, collective cell migration, cellular morphology, and invasive potential. Quantitative analysis reveals biased tumor cell behaviors across each genotype. WT tumor cells are biased toward proliferation and collective migration, d16 cells are biased toward proliferation and individual motility, and p95 tumor cells are biased toward individual motility and invasion. Single cell analysis reveals a myogenic-like state transition in p95 cells accompanied by an increased nuclear translocation of the Myocardin Related Transcription Factor A (MRTFA). MRTFA knockdown, as well as knockdown of a downstream effector, Transforming growth factor beta 1 induced transcript 1 (TGFB1I1), both inhibit the p95 invasive phenotype. Furthermore, intracellular residue tyrosine 1139 (Y1139) is necessary for MRTFA translocation, and when edited in p95 cells (Y1139F) invasion and motility phenotypes are subsequently lost. Our data illustrate the importance of functionally selective signaling in HER2 and highlight the need for therapeutics that intercept metastasis by targeting HER2 biased signaling.

cell biology↗

Mismatch repair deficiency predicts response to HER2 blockade in HER2-negative breast cancer

Estrogen receptor positive (ER+) breast cancer is a leading cause of cancer-related death globally. Resistance to standard of care endocrine treatment occurs in at least 30% of ER+ breast cancer patients resulting in ~40,000 deaths every year in the US alone. Preclinical studies strongly implicate activation of growth factor receptor, HER2 in endocrine treatment resistance of ER+ breast cancer that is HER2- at diagnosis1,2. However, clinical trials of pan-HER inhibitors in ER+/HER2- patients have disappointed, likely due to a lack of predictive biomarkers3-6. Here we demonstrate that loss of MLH1, a principal mismatch repair gene, causally activates HER2 in ER+/HER2- breast cancer upon endocrine treatment. Additionally, we show that HER2 activation is indispensable for endocrine treatment resistant growth of MLH1- cells in vitro and in vivo. Consequently, inhibiting HER2 restores sensitivity to endocrine treatment in multiple experimental models including patient-derived xenograft tumors. Patient data from multiple clinical datasets (TCGA, METABRIC, Alliance (Z1031) and E-GEOD-28826) supports an association between MLH1 loss, HER2 upregulation, and sensitivity to trastuzumab in endocrine treatment-resistant ER+/HER2- patients. These results provide strong rationale that MLH1 could serve as a first-in-class predictive marker of sensitivity to combinatorial treatment with endocrine drugs and HER inhibitors in endocrine treatment-resistant ER+/HER2- breast cancer patients. Implications of this study extend beyond breast cancer to Lynch Syndrome cancers. One Sentence SummaryDefective mismatch repair activates HER2 in HER2-negative breast cancer cells and renders them susceptible to HER2 inhibitors.

cancer biology↗

The prognostic effects of somatic mutations in ER-positive breast cancer

More than 50 genes are recurrently affected by somatic mutation in estrogen receptor positive (ER+) breast cancer but prognostic effects have not been definitively established. Primary tumor DNA was therefore subjected to targeted sequencing from 625 postmenopausal (UBC-TAM series) and 328 premenopausal (MA12 trial) hormone receptor-positive (HR+) patients. Independent validation of prognostic interactions was achieved using independent data from the METABRIC study. Associations between MAP3K1 and PIK3CA with luminal A status and TP53 mutations with Luminal B/non-luminal tumors were observed, validating the methodological approach. In UBC-TAM, NF1 frame-shift nonsense (FS/NS) mutation was validated as a poor outcome driver. For MA12, poor outcome associated with PIK3R1 mutation was similarly validated. DDR1 mutations were strongly associated with poor prognosis in UBC-TAM despite stringent false-discovery correction (q=0.0003). In conclusion, uncommon recurrent somatic mutations should be further explored to create a more complete explanation of the highly variable outcomes that typify ER+ breast cancer.

genomics↗