Evidence for associations of EXT1/EXT2 Gene Mutations and Chondrosarcoma: A Review of Medical Genetics Studies.

The EXT1 and EXT2 genes have long been recognized for their association with hereditary multiple exostoses (HME), a genetic disorder characterized by the presence of multiple benign bone tumors called osteochondromas.

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DIS3L2 Mutations and Predisposition to Nephroblastoma: Evidence of Associations Through Patient Cases and Cohort Studies

Nephroblastoma, commonly known as Wilms tumor, poses a significant health challenge in pediatric oncology.

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RECQL4 Mutations and Osteosarcoma: Comprehensive Genetics Evidence

Osteosarcoma, a malignant bone tumor primarily affecting children and adolescents, has long been associated with genetic factors.

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Exploring the Association between PTPN11 Mutations and Diverse Medical Outcomes, including hematological malignancies and neuroblastoma.

In the realm of genetic research, understanding the implications of specific gene mutations is paramount to unraveling the mysteries of various medical conditions. One such gene of interest is PTPN11, known for its association with a diverse array of outcomes.

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The Role of PRF1 Gene in Immune-Mediated Disorders, Hemophagocytic Lymphohistiocytosis, and Malignancies

This blog post presents evidence collected from the Nucleotide Germline Cancer Evidence Base, highlighting the association between PRF1 gene mutations and various immune-mediated disorders and malignancies.

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Exploring the Role of IDH1 Somatic Mutation in Tumorigenesis: A Review of Case Reports and Case Series Data from Nucleati Germline Cancer Evidence Base

Isocitrate dehydrogenase 1 (IDH1) is an enzyme that plays a crucial role in cellular metabolism by catalyzing the conversion of isocitrate to alpha-ketoglutarate (α-KG) in the citric acid cycle.

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Decoding RUNX1 Mutations: Exploring the Spectrum of Clinical Outcomes in Blood Disorders

Germline mutations in the RUNX1 gene are associated with a rare autosomal dominant disorder known as Familial Platelet Disorder with Predisposition to Acute Myeloid Leukemia (FPD/AML).

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Advantages of long-read sequencing for mRNA profiling of biological systems

mRNA sequencing (mRNA-Seq) evaluates the transcriptome of disease states and biological processes. mRNA-Seq is a precise method for measuring gene expression (Eichler, 2017). Unlike small reads typically produced by next-generation transcriptome sequencing, long reads help detect full-length transcripts, gene fusions, and allele-specific expression.

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Tools to evaluate the quality of third-generation/long-read sequencing data

Third-generation sequencing, also known as long-read sequencing, uses technologies developed by Pacific Biosciences (PacBio) and Oxford Nanopore Technologies to elucidate the sequence of a DNA molecule. Several software tools are available in the public domain to evaluate the quality of sequencing results from third-generation sequencers.

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ARMC5 Mutations and Meningioma

The ARMC5 gene codes for a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. ARM family members are observed near the nucleus and may play a role as a tumor suppressor through protein-protein interactions. 

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