Publications by authors named "Simin Daneshvar"
Article Synopsis
- Routine screening for DNA mismatch repair (MMR) deficiency in certain tumors often results in unresolved cases labeled as suspected Lynch syndrome (SLS), with a study involving 135 such cases across Australia and New Zealand.
- Targeted sequencing of tumors and matched blood samples revealed that 86.9% of these SLS cases could be classified into specific subtypes, primarily through the detection of double somatic MMR mutations.
- The research indicates that implementing tumor-focused testing and MLH1 methylation assays in clinical settings can effectively clarify SLS diagnoses, leading to better surveillance and screening for patients.
Article Synopsis
- Routine screening for DNA mismatch repair deficiency in colorectal, endometrial, and sebaceous skin tumors has led to many unresolved cases suspected of Lynch syndrome, affecting 135 patients across Australia and New Zealand.
- Targeted panel sequencing of tumors and matched blood DNA helped resolve 86.9% of these suspected cases by identifying various factors, including epimutations and germline MMR variants, with double somatic mutations being the most common cause.
- The study suggests that incorporating tumor sequencing and methylation assays into clinical diagnostics could reduce unresolved cases and improve patient surveillance and screening strategies.
Background: Muir-Torre syndrome is defined by the development of sebaceous skin lesions in individuals who carry a germline mismatch repair (MMR) gene mutation. Loss of expression of MMR proteins is frequently observed in sebaceous skin lesions, but MMR-deficiency alone is not diagnostic for carrying a germline MMR gene mutation.
Methods: Whole exome sequencing was performed on three MMR-deficient sebaceous lesions from individuals with MSH2 gene mutations (Lynch syndrome) and three MMR-proficient sebaceous lesions from individuals without Lynch syndrome with the aim of characterizing the tumor mutational signatures, somatic mutation burden, and microsatellite instability status.
Background: Different reports from Middle East countries demonstrated Kaposi's sarcoma (KS) in transplant population. This vascular malignancy occurs mostly among immunocompromised individuals. Human herpesvirus 8 (HHV-8) appears to be the causative factor for the development of this neoplasm.
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