BRCAIndica: a resource for ACMG/AMP classified BRCA1 and BRCA2 variants.

As genetic testing becomes increasingly accessible and affordable, the uniform and accurate interpretation of genetic variants becomes essential. The ACMG/AMP joint guidelines provide the basis for systematic and uniform interpretation of pathogenicity of genetic variants. However, the application of these in routine clinical interpretation at-scale has largely been limited by the lack of resources providing harmonized data especially at a population-scale.

Development and validation of 3D printed anthropomorphic head phantom with eccentric holes for medical LINAC quality assurance testing in stereotactic radiosurgery.

Stereotactic Radiosurgery (SRS) for brain tumors using Medical Linear Accelerator (LINAC) demands high precision and accuracy. A specific Quality Assurance (QA) is essential for every patient undergoing SRS to protect nearby non-cancerous cells by ensuring that the X-ray beams are targeted according to tumor position. In this work, a water-filled generic anthropomorphic head phantom consisting of two removable parts with eccentric holes was developed using Additive Manufacturing (AM) process for performing QA in SRS.

Lymphoepithelial Carcinoma: A rare Presentation in the Hypopharynx.

Hypopharyngeal origin of lymphoepithelial carcinoma is extremely rare. We report a case of 74 years old male presented with Globus sensation in the throat for 2 months. He underwent total laryngectomy with partial pharyngectomy after clinico-radiological evaluation and biopsy.

An Unusual Presentation of Extramedullary Plasmacytoma in the Orbit in a Middle-Aged Woman.

Orbital location for an extramedullary plasmacytoma is very rare. We report a case of 48 years old woman with swelling in the upper medial aspect of Right eye for 1 year. Histopathological evaluation was consistent with Plasmacytoma and IHC was strongly positive for CD 138.

Multi-omics Analysis Classifies Colorectal Cancer into Distinct Methylated Immunogenic and Angiogenic Subtypes Based on Anatomical Laterality.

Unlabelled: We employed supervised machine learning algorithms to a cohort of colorectal cancer patients from the NCI to differentiate and classify the heterogenous disease based on anatomical laterality and multi-omics stratification, in a first of its kind. Multi-omics integrative analysis shows distinct clustering of left and right colorectal cancer with disentangled representation of methylome and delineation of transcriptome and genome. We present novel multi-omics findings consistent with augmented hypermethylation of genes in right CRC, epigenomic biomarkers on the right in conjunction with immune-mediated pathway signatures, and lymphocytic invasion which unlocks unique therapeutic avenues.

MUSTARD-a comprehensive resource of mutation-specific therapies in cancer.

The steady increase in global cancer burden has fuelled the development of several modes of treatment for the disease. In the presence of an actionable mutation, targeted therapies offer a method to selectively attack cancer cells, increasing overall efficacy and reducing harmful side effects. However, different drug molecules are in different stages of development, with new molecules obtaining approvals from regulatory agencies each year.

The role of the circadian clock in cancer hallmark acquisition and immune-based cancer therapeutics.

The circadian system temporally regulates physiology to maintain homeostasis. Co-opting and disrupting circadian signals appear to be distinct attributes that are functionally important for the development of a tumor and can enable or give rise to the hallmarks that tumors use to facilitate their initiation, growth and progression. Because circadian signals are also strong regulators of immune cell proliferation, trafficking and exhaustion states, they play a role in how tumors respond to immune-based cancer therapeutics.

Emerging role of immune checkpoint inhibitors and predictive biomarkers in head and neck cancers.

Head and neck cancers are a group of diverse and heterogeneous tumors, among which squamous cell carcinoma of the head and neck (SCCHN) is the most prevalent. Current treatment modalities have limited efficacy; therefore, new therapies are being actively developed and evaluated. The introduction of immune checkpoint inhibitors (ICIs) has led to a paradigm shift in the management of difficult-to-treat malignancies.

Immunohistochemical Identification of Muscle Fiber Types in Mice Sections.

Mammalian skeletal muscle is a metabolically active tissue that is made up of different types of muscle fibers. These myofibers are made up of important contractile proteins that provide force during contraction of the muscle like actin and myosin. Murine myofibers have been classified into 4 types: Type I, Type IIa, Type IIb and Type IIX.

Failure-to-Rescue Following Cytoreductive Surgery with or Without HIPEC is Determined by the Type of Complication-a Retrospective Study by INDEPSO.

To determine factors influencing failure-to-rescue in patients with complications following cytoreductive surgery and HIPEC. A retrospective analysis of patients enrolled in the Indian HIPEC registry was performed. Complications were graded according to the CTCAE classification version 4.

Analysis of Clinical Outcomes of Pseudomyxoma Peritonei from Appendicular Origin Following Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy-A Retrospective Study from INDEPSO.

To evaluate the clinical outcomes of patients of pseudomyxoma peritonei of appendiceal origin undergoing cytoreductive surgery and HIPEC. Data collected from members, an independent collaborative group of Indian surgeons specializing in the management of peritoneal surface malignancy (INDEPSO), was analyzed retrospectively. Clinicopathological and perioperative outcomes of patients treated for pseudomyxoma peritonei (PMP) of appendicular origin were evaluated.

Role of Akirin1 in the regulation of skeletal muscle fiber-type switch.

Akirin1 is a highly conserved ubiquitously expressed nuclear protein. Owing to its strong nuclear localization signal and protein-protein interaction properties, Akirin1 has been speculated to regulate transcription of target genes as a cofactor. Previous studies have reported Akirin1 as a downstream target of myostatin, a potent negative regulator of myogenesis.

Mitochondria: the indispensable players in innate immunity and guardians of the inflammatory response.

Mitochondria, the dynamic organelles and power house of eukaryotic cells function as metabolic hubs of cells undergoing continuous cycles of fusion and fission. Recent findings have made it increasingly apparent that mitochondria essentially involved in energy production have evolved as principal intracellular signaling platforms regulating not only innate immunity but also inflammatory responses. Perturbations in mitochondrial dynamics, including fusion/fission, electron transport chain (ETC) architecture and cristae organization have now been actively correlated to modulate metabolic activity and immune function of innate and adaptive immune cells.

Patterns of pathological response to neoadjuvant chemotherapy and its clinical implications in patients undergoing interval cytoreductive surgery for advanced serous epithelial ovarian cancer- A study by the Indian Network for Development of Peritoneal Surface Oncology (INDEPSO).

Objectives: The goals were to study • The pattern of pathological response to neoadjuvant chemotherapy (NACT) and its clinical implications • The impact of chemotherapy response grade (CRG) on survival METHODS: A retrospective analysis of patients undergoing interval cytoreductive surgery (CRS) between January 2013 to December 2017 was performed. The surgical and pathological reports were analyzed and surgical and pathological PCI compared. The pathological response to chemotherapy was assessed using the score developed by Bohm.

Treading the beaten path with old and new obstacles: a report from the Indian HIPEC registry.

Background: The Indian HIPEC registry is a self-funded registry instituted by a group of Indian surgeons for patients with peritoneal metastases (PM) undergoing surgical treatment. This work was performed to  • Evaluate outcomes of cytoreductive surgery ± HIPEC in patients enrolled in the registry.  • Identify operational problems.