Q701 / Qurient - LARVOL DELTA

Genetic profile in primary tumor tissue of advanced lung adenocarcinoma patients with adrenal metastasis. (PubMed, Cancer Genet) - "EGFR mutations, especially rare variants (G724A, L747P, Q701 L, G719C, V769 L and S768I), exhibited significant enrichment in the non-AM group (P<0.001)...Meanwhile, patients with adrenal metastases harboring ALK or KRAS mutations have a poor prognosis and require more aggressive treatment. The TNF and TGF-β pathways might be associated with adrenal metastasis."

Journal • Metastases • Lung Adenocarcinoma • Lung Cancer • Non Small Cell Lung Cancer • Oncology • Solid Tumor • ALK • BRCA • EGFR • KEAP1 • KRAS • LRP1B • NOTCH1 • RET • TGFB1 • TP53

Response to osimertinib of non-small cell lung cancer with EGFR compound mutation and tyrosine kinase inhibitor resistance-associated CDKN2A/B, PIK3CA and CTNNB1 alterations (DGHO 2024) - "We identified EGFR L858R and Q701L compound mutation as a clinically relevant and TKI-sensitive driver in lung adenocarcinoma. In this case, therapy with Osimertinib is effective, even in the context of CDKN2A/B loss and activating mutations in PIK3CA and CTNNB1. Particularly in complex cases such as this, interdisciplinary discussion within a molecular tumor board is important for determining the optimal therapeutic approach based on NGS findings."

Lung Adenocarcinoma • Lung Cancer • Non Small Cell Lung Cancer • Oncology • Solid Tumor • BAP1 • CDKN2A • CDKN2B • CTNNB1 • EGFR • MLH1 • PIK3CA

Personalized circulating tumor DNA testing for recurrence detection and treatment response monitoring in patients with metastatic invasive lobular carcinoma (SABCS 2023) - "At variant level, PIK3CA p.H1047R (22%) and RBM26 p.Q701Tfs*23 (10%) were the top two somatic variants identified...Conclusions ctDNA status and dynamics correlate well with clinical status of patients with mILC, as determined by conventional monitoring tools such as imaging and biopsy. Our results indicate that personalized, tumor-informed, longitudinal ctDNA testing may serve as a useful tool for detection of progression and monitoring treatment response in mILC patients."

Circulating tumor DNA • Clinical • Metastases • Breast Cancer • HER2 Breast Cancer • Oncology • Triple Negative Breast Cancer • CDH1 • ER • HER-2 • IGF1 • PGR • PIK3CA • TBX3 • TP53

EFFICACY OF NITRIC OXIDE IN STROKE-2 (ENOS-2): RATIONALE AND DESIGN OF A PHASE IIB SINGLE BLIND RANDOMISED CONTROLLED SINGLE-CENTRE TRIAL (WSC 2022) - "Nitric oxide (NO) donors such as glyceryl trinitrate (GTN) are candidate treatments for acute stroke. This study is funded by NUH Charity, grant code CRF-BATH-NOV 2019 (fund number Q7010)."

Clinical • P2b data • Cardiovascular • CNS Disorders • Epilepsy • Hypertension • Ischemic stroke • NOS3

Mutational analysis of residues in PriA and PriC affecting their ability to interact with SSB in Escherichia coli K-12. (PubMed, J Bacteriol) - "Here, we further study the SSB-binding pockets of PriA and PriC by placing priA341(R697A), priA344(R697E), priA345(Q701E) and priC351(R155A) on the chromosome and characterizing these mutant strains...These phenotypes were partially suppressed by SSB overproduction. These studies give us further insight into the reactions needed for replication restart."

Biomarker • Journal • RPA1

Palmar hyperlinearity in early childhood atopic dermatitis is associated with filaggrin mutation and sensitization to egg. (PubMed, Pediatr Dermatol) - "Palmar hyperlinearity indicates possible inherited barrier abnormalities of the skin in early childhood. Its identification may help to predict a more accurate prognosis, such as sensitization."

Biomarker • Clinical • Journal