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  1. 7 Αυγ 2019 · Recent advances in molecular techniques have allowed the evaluation of the impact of germline and tumor mutational status on overall cancer risk, patient prognosis and treatment response. Tumor mutation frequency varies widely among cancer types and between tumors of the same histotype.

  2. 15 Δεκ 2022 · Thus although renal cancer is a ‘canonical’ tumour associated with Von Hippel–Lindau heritable cancer syndrome, the common somatic VHL mutations in renal tumours pass germline-focused filtering and ‘swamp’ those of true germline origin.

  3. 8 Φεβ 2021 · Tumor mutational burden (TMB) reflects cancer mutation quantity. Mutations are processed to neo-antigens and presented by major histocompatibility complex (MHC) proteins to T cells. To evade immune eradication, cancers exploit checkpoints that dampen T cell reactivity.

  4. In this review, we outline the evolution of TMB as a biomarker in oncology, delineate how TMB can be applied in the clinic, discuss current limitations as a diagnostic test, and highlight mechanistic insights unveiled by the study of TMB.

  5. 1 Ιουλ 2014 · Each process leaves a characteristic imprint — a mutational signature — on the cancer genome, which is defined by the type of DNA damage and DNA repair processes that result in base...

  6. 10 Οκτ 2021 · Some tumors carry the hypermutator phenotype due to a deficiency of other components of maintenance of genomic stability. MUTYH-associated colorectal carcinomas have an excessive amount of G:C > T:A substitutions due to a deficiency in base excision repair .

  7. What Is Tumor Mutation Burden? The goal of cancer treatment is to kill cancer cells while not hurting the body’s healthy cells. One way this is done is by using a drug to target a specific genetic change (also referred to as a mutation) in the cancer cells that is not seen in healthy cells.

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