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MUTATIONAL SIGNATURES IN CANCER GENOMES 🎗️

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“𝕋𝕙𝕖 𝕘𝕖𝕟𝕠𝕞𝕖 𝕠𝕗 𝕖𝕧𝕖𝕣𝕪 𝕔𝕒𝕟𝕔𝕖𝕣 𝕡𝕣𝕠𝕧𝕚𝕕𝕖𝕤 𝕒 𝕜𝕚𝕟𝕕 𝕠𝕗 ‘𝕒𝕣𝕔𝕙𝕒𝕖𝕠𝕝𝕠𝕘𝕚𝕔𝕒𝕝 𝕣𝕖𝕔𝕠𝕣𝕕,’ 𝕨𝕣𝕚𝕥𝕥𝕖𝕟 𝕚𝕟 𝕥𝕙𝕖 𝔻ℕ𝔸 𝕔𝕠𝕕𝕖 𝕚𝕥𝕤𝕖𝕝𝕗, 𝕠𝕗 𝕥𝕙𝕖 𝕖𝕩𝕡𝕠𝕤𝕦𝕣𝕖𝕤 𝕥𝕙𝕒𝕥 𝕔𝕒𝕦𝕤𝕖𝕕 𝕥𝕙𝕖 𝕞𝕦𝕥𝕒𝕥𝕚𝕠𝕟𝕤 𝕥𝕙𝕒𝕥 𝕝𝕖𝕒𝕕 𝕥𝕠 𝕥𝕙𝕖 𝕔𝕒𝕟𝕔𝕖𝕣.” - Sir. Mike Stratton 🧬 Cancer arises from the accumulation of somatic mutations, each carrying clues about the biological and environmental forces that shaped the tumor’s evolution. With the advent of high-throughput sequencing and large-scale projects like TCGA and ICGC, we have uncovered distinct mutational signatures; recurring patterns of DNA alterations that reflect specific mutagenic processes. 🔹 What are mutational signatures? They are characteristic patterns of nucleotide substitutions, insertions, or deletions, shaped by mechanisms such as aging, tobacco exposure, UV light, or defective DNA repair. For example, Signature 1 correlates with age-related deamin...

WEEKEND READS 📚

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Recommended book of the weekend: 🍃 ☕ ➡️ "THE TERRAFORMERS" By ANNALEE NEWITZ   🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁

DNA REPAIR PATHWAYS AND CANCER PREDISPOSITION

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“𝔻ℕ𝔸 𝕣𝕖𝕡𝕒𝕚𝕣 𝕚𝕤 𝕥𝕙𝕖 𝕘𝕦𝕒𝕣𝕕𝕚𝕒𝕟 𝕠𝕗 𝕘𝕖𝕟𝕠𝕞𝕚𝕔 𝕚𝕟𝕥𝕖𝕘𝕣𝕚𝕥𝕪, 𝕒𝕟𝕕 𝕚𝕥𝕤 𝕗𝕒𝕚𝕝𝕦𝕣𝕖 𝕚𝕤 𝕒 𝕗𝕦𝕟𝕕𝕒𝕞𝕖𝕟𝕥𝕒𝕝 𝕔𝕒𝕦𝕤𝕖 𝕠𝕗 𝕔𝕒𝕟𝕔𝕖𝕣.” - Tomas Lindahl (Nobel Laureate) 🧬 DNA serves as life’s blueprint, yet it is constantly assaulted by environmental insults (UV, radiation, chemical mutagens) and intrinsic stressors (replication errors, oxidative damage). To safeguard stability, cells rely on highly coordinated DNA repair pathways. When these mechanisms falter, mutations accumulate, elevating cancer risk.           🔹 Key DNA Repair Pathways: 1. NER (Nucleotide Excision Repair): Removes bulky lesions (e.g., UV-induced adducts). Defects cause Xeroderma Pigmentosum, with extreme skin cancer risk. 2. BER (Base Excision Repair): Fixes oxidative and small base modifications. 3. HR (Homologous Recombination): Error-free repair of double-strand breaks using a template. Mutations in BRCA1/...

WEEKEND READS 📚

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Recommended book of the weekend: 🍃 ☕ ➡️ "THE ECHO WIFE" By Sarah Gailey   🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁

POPULATION GENETICS OF RARE VARIANTS

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“𝕋𝕙𝕖 𝕧𝕒𝕤𝕥 𝕓𝕦𝕣𝕕𝕖𝕟 𝕠𝕗 𝕕𝕖𝕝𝕖𝕥𝕖𝕣𝕚𝕠𝕦𝕤 𝕞𝕦𝕥𝕒𝕥𝕚𝕠𝕟𝕤 𝕚𝕟 𝕙𝕦𝕞𝕒𝕟𝕤 𝕝𝕚𝕖𝕤 𝕚𝕟 𝕣𝕒𝕣𝕖 𝕧𝕒𝕣𝕚𝕒𝕟𝕥𝕤, 𝕨𝕙𝕚𝕔𝕙 𝕞𝕒𝕜𝕖𝕤 𝕥𝕙𝕖𝕞 𝕔𝕣𝕚𝕥𝕚𝕔𝕒𝕝 𝕗𝕠𝕣 𝕦𝕟𝕕𝕖𝕣𝕤𝕥𝕒𝕟𝕕𝕚𝕟𝕘 𝕘𝕖𝕟𝕖𝕥𝕚𝕔 𝕝𝕠𝕒𝕕 𝕒𝕟𝕕 𝕕𝕚𝕤𝕖𝕒𝕤𝕖 𝕤𝕦𝕤𝕔𝕖𝕡𝕥𝕚𝕓𝕚𝕝𝕚𝕥𝕪.” - Professor James F. Crow (Emeritus) 🧬 Population genetics has been transformed by next-generation sequencing, revealing the critical role of rare variants-mutations occurring in <1% of individuals. While often overlooked compared to common variants, rare variants provide unique insights into evolution, disease, and genetic diversity.            🔹 Rare variants arise through mutation, genetic drift, and demographic events such as bottlenecks. In small or isolated populations, drift and founder effects can increase their frequency, sometimes conferring adaptive advantages.           🔹...

SNIPPET 9

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WEEKEND READS 📚

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Recommended book of the weekend: 🍃 ☕ ➡️ "107 DAYS" By Kamala Harris   🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁