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Understanding Soma tic Mutations in the Context of Cancer

NextEdge Admin

03 Oct 2023

3 min 18 sec

Somatic mutations are alterations in DNA that occur in non-reproductive cells and are not passed on to offspring. These mutations can take various forms. Here are some examples:

Point Mutations:

Missense Mutation: A single nucleotide change that leads to the substitution of one amino acid in the protein sequence. For instance, in the BRAF gene, a V600E mutation is a common missense mutation found in various cancers.
Nonsense Mutation: A mutation that changes a codon encoding an amino acid into a premature stop codon, leading to a truncated and often non-functional protein.
Silent Mutation: A mutation that doesn’t result in an amino acid change due to the redundancy of the genetic code. Silent mutations are considered neutral as they do not alter the protein sequence.

Insertions and Deletions (Indels):

Small insertions or deletions of nucleotides can shift the reading frame during protein synthesis, resulting in altered or truncated proteins.

Chromosomal Rearrangements:

Translocations: Parts of chromosomes break off and attach to other chromosomes. For example, the Philadelphia chromosome, a translocation between chromosomes 9 and 22, is associated with chronic myeloid leukemia (CML).
Inversions: A segment of the chromosome breaks off and reattaches in reverse order.
Duplications and Deletions: Portions of the chromosome are duplicated or lost.

Copy Number Variations (CNVs):

Amplifications or deletions of a particular section of the DNA sequence. For example, amplification of the HER2 gene in breast cancer leads to an increased number of HER2 receptors, contributing to cancer growth.

Microsatellite Instability (MSI):

Repetitive DNA sequences in the genome (microsatellites) that are prone to mutations. High MSI is observed in certain cancers such as colorectal cancer.

These are just a few examples of the diverse range of somatic mutations that can occur in cancer and other diseases. Somatic mutations play a crucial role in the development and progression of various diseases, including cancer, and understanding their nature is essential for diagnosis, treatment, and targeted therapies.