Publications by authors named "Cassandra Vakulin"
Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 identified that, despite the national-accreditation-body recommendations encouraging laboratories to submit genotypic data to clinical databases, fewer than 300 variants had been shared to the ClinVar public database. Consultations with Australian laboratories identified resource constraints limiting routine application of manual processes, consent issues, and differences in interpretation systems as barriers to sharing.
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- - The Tenascin-XB gene (TNXB) is often associated with classical-like Ehlers-Danlos syndrome (clEDS) due to mutations that affect its function, leading to collagen issues.
- - A unique case is presented involving a patient with clEDS who also experienced spontaneous pneumothorax, a condition not previously linked to this syndrome, indicating a possible connection.
- - The study identifies two harmful genetic variants and suggests that the deficiency of tenascin-X may play a role in increasing the risk for pneumothorax, thereby broadening the understanding of clEDS symptoms and diagnostic challenges.
Article Synopsis
- The study investigates the role of the RNF43 gene in causing an inherited risk for colorectal cancer (CRC), revealing that two family members with CRC share a likely-pathogenic variant.
- Both individuals were diagnosed with CRC at ages 50 and 65, and both tumors had specific genetic characteristics, including mutations in BRAF.
- The identified RNF43 variant leads to an altered RNA and a nonfunctional protein, reinforcing the idea that RNF43 acts as a tumor suppressor in CRC development and should be considered in hereditary cancer predisposition studies.
First reported in 1999, germline runt-related transcription factor 1 (RUNX1) mutations are a well-established cause of familial platelet disorder with predisposition to myeloid malignancy (FPD-MM). We present the clinical phenotypes and genetic mutations detected in 10 novel RUNX1-mutated FPD-MM families. Genomic analyses on these families detected 2 partial gene deletions, 3 novel mutations, and 5 recurrent mutations as the germline RUNX1 alterations leading to FPD-MM.
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