Characterization Of Genomic Alterations And Tcrβ Repertoire Of Tumor- Infiltrating Lymphocytes In Breast Cancer

Breast cancer still remains a major cause of morbidity and mortality among women in Qatar and worldwide. More recent studies indicate that the diversity and the composition of the entire set of antigen receptors within tumor-infiltrating lymphocytes (TILs) is strongly correlated with tumor prognosis and therapeutic response with breast cancer. Unfortunately, the relationship between somatic mutational load and TCR diversity of TILs across breast cancer still limited. For this purpose, first we characterized the somatic mutations of Formalin-Fixed Paraffin-Embedded breast cancer samples from 79 patients using NGS of a panel of cancer related genes. Second, we classified and identified the TCRß repertoire for these 11 samples using the ImmunoSEQ platform. Preliminary data demonstrated that the 11 patients had high diversity of TCRß-CDR3 within the tumors. However, there was no statistically significant association between the somatic mutational loads in the gene panels we sequenced and the number of productive TCRß-CDR3 rearrangements

Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome

Abstract Background Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic disorder caused by variants in genes involved in the function of the primary cilium. We have harnessed genomics to identify BBS and ophthalmic technologies to describe novel features of BBS. Case presentation A patient with an unclear diagnosis of syndromic type 2 diabetes mellitus, another affected sibling and unaffected siblings and parents were sequenced using DNA extracted from saliva samples. Corneal confocal microscopy (CCM) and retinal spectral domain optical coherence tomography (SD-OCT) were used to identify novel ophthalmic features in these patients. The two affected individuals had a homozygous variant in C8orf37 (p.Trp185*). SD-OCT and CCM demonstrated a marked and patchy reduction in the retinal nerve fiber layer thickness and loss of corneal nerve fibers, respectively. Conclusion This report highlights the use of ophthalmic imaging to identify novel retinal and corneal abnormalities that extend the phenotype of BBS in a patient with syndromic type 2 diabetes