Unveiling pathogenic mutations in BRCA1 and BRCA2 genes across head and neck squamous cell carcinoma patients via next generation sequencing.

Head and Neck Squamous Cell Carcinoma (HNSC) presents a formidable challenge in the field of oncology due to its aggressive nature and the limited therapeutic options available. In this study, our primary focus was on the Pakistani HNSC patient population, aiming to investigate germline oncogenic mutations within the BRCA1 and BRCA2 genes via Next Generation Sequencing (NGS) and explore their clinical implications. We sought to understand the functional consequences of these mutations via RT-qPCR and Immunohistochemistry (IHC) techniques. The key discovery of our research lies in the identification of three pathogenic mutations, including two within BRCA1 (p.Cys274Ter and p.Glu272Ter) and one within BRCA2 (p.Met1Val), among Pakistani HNSC patients. These mutations previously associated with an increased risk of various cancers. What sets our study apart is the uniqueness of these pathogenic mutations, absent in HNSC patients from other populations. This suggests a distinct genetic profile in Pakistani HNSC patients, possibly contributing to their susceptibility to this malignancy. Furthermore, our research revealed elevated expression levels of BRCA1 and BRCA2 genes in HNSC samples harboring pathogenic mutations, offering insights into mechanisms driving tumor progression in HNSC. Importantly, we identified significant enrichment of BRCA1/2 genes in pathways related to cancer development within the KEGG database. Finally, in our quest to explore therapeutic avenues, we systematically analyzed drugs targeting up-regulated and mutated BRCA1/2 genes, identifying promising candidates for tailored treatment modalities in HNSC. In conclusion, our study reveals the unique genetic profile of HNSC in Pakistani patients, featuring unique pathogenic mutations in BRCA1 and BRCA2 genes. These mutations offer promise as valuable diagnostic markers and potential therapeutic targets.

Impact of Small Incision Reduction and Suture Linked with Functional Appliance of Sufferers with Irrecoverable TMJ Anterior Disc Displacement.

Methods: 90 patients with irreducible ADD of TMJ treated from August 2020 to August 2021 were acquired in our hospital. They were randomly divided into control group and trial group randomly. There were 45 patients in each group. The sufferers in the control group were treated with oral drug therapy and small incision reduction and suture, while those in the trial group were treated with small incision reduction and suture linked with functional appliance. The pain score, dysfunction, joint function recovery, facial improvement, and clinical impacts of the two groups were contrasted. Results: Compared with that in the control group at 1 week, 4 weeks, and 6 months after therapy, the pain score in the trial group was markedly higher. After therapy, in the two groups, maximum vertical opening (MVO), left lateral excursion (LLE), and right lateral excursion (RLE) levels were markedly higher than those in the control group. The MRI score of the trial group was markedly higher than that of the control group at 1 week, 4 weeks, and 6 months after therapy, and the total effective rate of the trial group was markedly higher than that of the control group. Conclusion: The use of small incision reduction and suture linked with functional appliance in the therapy of sufferers with irreducible ADD of TMJ is beneficial to relieve pain, promote the recovery of body function, and contribute to the recovery of joint function.