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Mutational signatures
Mutational signatures provide a powerful alternative for understanding the pathophysiology of cancer. Currently, experimental efforts aimed at validating and understanding the etiologies of cancer-derived mutational signatures...
Published by: Genome biology
Holistic cancer genome profiling for every patient.
Technological advances in the ability to read the human genome have accelerated the speed of sequencing, such that today we can perform whole genome sequencing (WGS) in one day. Until recently, genomic studies have largely been...
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From genome integrity to cancer.
Serena Nik-Zainal
Mar 04, 2019
The genome in each of our normal cells acquires somatic genetic changes throughout life [1]. The burden of DNA damage from exogenous and endogenous sources is considerable, but highly competent DNA repair pathways operate in...
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Mutational signatures
Mutational signatures provide a powerful alternative for understanding the pathophysiology of cancer. Currently, experimental efforts aimed at validating and understanding the etiologies of cancer-derived mutational signatures...
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A mutational signature in gastric cancer suggests therapeutic strategies.
Targeting defects in the DNA repair machinery of neoplastic cells, for example, those due to inactivating BRCA1 and/or BRCA2 mutations, has been used for developing new therapies in certain types of breast, ovarian and...
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Deciphering signatures of mutational processes operative in human cancer.
The genome of a cancer cell carries somatic mutations that are the cumulative consequences of the DNA damage and repair processes operative during the cellular lineage between the fertilized egg and the cancer cell. Remarkably...
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Transcription-coupled repair and mismatch repair contribute towards preserving genome integrity at mononucleotide repeat tracts
Abstract: The mechanisms that underpin how insertions or deletions (indels) become fixed in DNA have primarily been ascribed to replication-related and/or double-strand break (DSB)-related processes. Here, we introduce a method...
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Short inverted repeats contribute to localized mutability in human somatic cells.
Selected repetitive sequences termed short inverted repeats (SIRs) have the propensity to form secondary DNA structures called hairpins. SIRs comprise palindromic arm sequences separated by short spacer sequences that form the...
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Validating the concept of mutational signatures with isogenic cell models.
The diversity of somatic mutations in human cancers can be decomposed into individual mutational signatures, patterns of mutagenesis that arise because of DNA damage and DNA repair processes that have occurred in cells as they...
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A living biobank of canine mammary tumor organoids as a comparative model for human breast cancer.
Mammary tumors in dogs hold great potential as naturally occurring breast cancer models in translational oncology, as they share the same environmental risk factors, key histological features, hormone receptor expression...
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Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome
Abstract: Patients with CYLD cutaneous syndrome (CCS; syn. Brooke-Spiegler syndrome) carry germline mutations in the tumor suppressor CYLD and develop multiple skin tumors with diverse histophenotypes. Here, we comprehensively...
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Mutational History of a Human Cell Lineage from Somatic to Induced Pluripotent Stem Cells.
The accuracy of replicating the genetic code is fundamental. DNA repair mechanisms protect the fidelity of the genome ensuring a low error rate between generations. This sustains the similarity of individuals whilst providing a...
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