21 Result(s)

Article

Augmented interpretation of HER2, ER, and PR in breast cancer by artificial intelligence analyzer: enhancing interobserver agreement through a reader study of 201 cases

Accurate classification of breast cancer molecular subtypes is crucial in determining treatment strategies and predicting clinical outcomes. This classification largely depends on the assessment of human epide...

Minsun Jung, Seung Geun Song, Soo Ick Cho, Sangwon Shin… in Breast Cancer Research (2024)

Article

Publisher Correction: Truncated FGFR2 is a clinically actionable oncogene in multiple cancers

Daniel Zingg, **hyuk Bhin, Julia Yemelyanenko, Sjors M. Kas, Frank Rolfs… in Nature (2022)

Article

Truncated FGFR2 is a clinically actionable oncogene in multiple cancers

Somatic hotspot mutations and structural amplifications and fusions that affect fibroblast growth factor receptor 2 (encoded by FGFR2) occur in multiple types of cancer¹. However, clinical responses to FGFR inhib...

Daniel Zingg, **hyuk Bhin, Julia Yemelyanenko, Sjors M. Kas, Frank Rolfs… in Nature (2022)

Article

Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma

There are more than 70 distinct sarcomas, and this diversity complicates the development of precision-based therapeutics for these cancers. Prospective comprehensive genomic profiling could overcome this chall...

Mrinal M. Gounder, Narasimhan P. Agaram, Sally E. Trabucco… in Nature Communications (2022)

Article

Structure–function analysis of oncogenic EGFR Kinase Domain Duplication reveals insights into activation and a potential approach for therapeutic targeting

Mechanistic understanding of oncogenic variants facilitates the development and optimization of treatment strategies. We recently identified in-frame, tandem duplication of EGFR exons 18 - 25, which causes EGFR K...

Zhenfang Du, Benjamin P. Brown, Soyeon Kim, Donna Ferguson… in Nature Communications (2021)

Article

Recurrent secondary genomic alterations in desmoplastic small round cell tumors

Desmoplastic small round cell tumor (DSRCT) is a rare, highly aggressive, translocation-associated soft-tissue sarcoma that primarily affects children, adolescents, and young adults, with a striking male predo...

Warren A. Chow, Jiing-Kuan Yee, Walter Tsark, **wei Wu, Hanjun Qin… in BMC Medical Genetics (2020)

Article

RET rearrangements are actionable alterations in breast cancer

Fusions involving the oncogenic gene RET have been observed in thyroid and lung cancers. Here we report RET gene alterations, including amplification, missense mutations, known fusions, novel fusions, and rearran...

Bhavna S. Paratala, Jon H. Chung, Casey B. Williams… in Nature Communications (2018)

Article

Clinical utility of tumor genomic profiling in patients with high plasma circulating tumor DNA burden or metabolically active tumors

This retrospective study was undertaken to determine if the plasma circulating tumor DNA (ctDNA) level and tumor biological features in patients with advanced solid tumors affected the detection of genomic alt...

Cathy Zhou, Zilong Yuan, Weijie Ma, Lihong Qi… in Journal of Hematology & Oncology (2018)

Article

Targeted genomic landscape of metastases compared to primary tumours in clear cell metastatic renal cell carcinoma

The genomic landscape of primary clear cell renal cell carcinoma (ccRCC) has been well described. However, little is known about cohort genomic alterations (GA) landscape in ccRCC metastases, or how it compare...

Guillermo de Velasco, Stephanie A. Wankowicz, Russell Madison… in British Journal of Cancer (2018)

Article

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden

High tumor mutational burden (TMB) is an emerging biomarker of sensitivity to immune checkpoint inhibitors and has been shown to be more significantly associated with response to PD-1 and PD-L1 blockade immuno...

Zachary R. Chalmers, Caitlin F. Connelly, David Fabrizio, Laurie Gay… in Genome Medicine (2017)

Article

Objective response to mTOR inhibition in a metastatic collision tumor of the liver composed of melanoma and adenocarcinoma with TSC1 loss: a case report

Collision tumors are uncommon but well described clinical entities composed of distinct tumor histologies occurring within the same anatomic site. Optimal management of patients with collision tumors remains h...

Munveer S. Bhangoo, Jenny Y. Zhou, Siraj M. Ali, Russell Madison… in BMC Cancer (2017)

Article

FGFR1 and NTRK3 actionable alterations in “Wild-Type” gastrointestinal stromal tumors

About 10–15% of adult, and most pediatric, gastrointestinal stromal tumors (GIST) lack mutations in KIT, PDGFRA, SDHx, or RAS pathway components (KRAS, BRAF, NF1). The identification of additional mutated gene...

Eileen Shi, Juliann Chmielecki, Chih-Min Tang… in Journal of Translational Medicine (2016)

Article

STUMP un“stumped”: anti-tumor response to anaplastic lymphoma kinase (ALK) inhibitor based targeted therapy in uterine inflammatory myofibroblastic tumor with myxoid features harboring DCTN1-ALK fusion

Recurrent, metastatic mesenchymal myxoid tumors of the gynecologic tract present a management challenge as there is minimal evidence to guide systemic therapy. Such tumors also present a diagnostic dilemma, as...

Vivek Subbiah, Caitlin McMahon, Shreyaskumar Patel… in Journal of Hematology & Oncology (2015)

Article

Targeted therapy by combined inhibition of the RAF and mTOR kinases in malignant spindle cell neoplasm harboring the KIAA1549-BRAF fusion protein

Oncologic patients who are extreme responders to molecularly targeted therapy provide an important opportunity to better understand the biologic basis of response and, in turn, inform clinical decision making....

Vivek Subbiah, Shannon N Westin, Kai Wang, Dejka Araujo… in Journal of Hematology & Oncology (2014)