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BRCA Genes and Hereditary Cancer UPSC NOTE

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  Why in news The International Agency for Research on Cancer reported that cancer cases and deaths are increasing globally , with significa...

 Why in news

  • The International Agency for Research on Cancer reported that cancer cases and deaths are increasing globally, with significant risks associated with genetic mutations.

BRCA Genes and Hereditary Cancer

  • BRCA1 and BRCA2 genes are crucial for DNA repair; mutations in these genes significantly increase the risk of developing breast and ovarian cancers.

  • Approximately 10% of cancer cases involve inherited mutations, with BRCA mutations found in about 1 in 400 individuals.

  • In populations such as Ashkenazi Jews, about 1 in 40 individuals carry BRCA mutations, a rate 10 times higher than the general population.

  • Besides breast and ovarian cancers, BRCA mutations are linked to increased risks of prostate cancer, pancreatic cancer, and some colorectal cancers.


Advances with CRISPR Technology

  • CRISPR-Cas9 technology allows researchers to create specific mutations in BRCA genes to study cancer development and treatment responses.

  • Advances include identifying how BRCA mutations affect sensitivity to treatments like PARP inhibitors.

CRISPR gene-editing tool

  • CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) is a powerful tool used to make precise changes to the DNA of organisms

  • It uses guide RNA to direct the Cas9 or Cas12 protein to a specific DNA sequence where it makes cuts or modifications.

  • Widely used in genetic research, medicine, and agriculture to edit genes, improve crops, and potentially treat genetic disorders

  • But they are too bulky for plant cells to accommodate.

  • It usually involves the introduction of a new gene, or suppression of an existing gene, through a process described as genetic engineering.

  • CRISPR technology does not involve the introduction of any new gene from the outside.

  • CRISPR-Cas9 technology is often described as ‘Genetic Scissors’.

  • Its mechanism is often compared to the ‘cut-copy-paste’, or ‘find-replace’ functionalities in common computer programmes

  • A bad stretch in the DNA sequence, which is the cause of disease or disorder, is located, cut, and removed and then replaced with a ‘correct’ sequence.

  • The tools used to achieve this are biochemical i.e., specific protein and RNA molecules.

  • The technology replicates a natural defence mechanism in some bacteria that uses a similar method to protect itself from virus attacks.

Mechanism:

  • The first task is to identify the particular sequence of genes that is the cause of the trouble.

  • Once that is done, an RNA molecule is programmed to locate this sequence on the DNA strand

  • After this Cas9 is used to break the DNA strand at specific points, and remove the bad sequence.

  • A DNA strand, when broken, has a natural tendency to re-attach and heal itself. But if the auto-repair mechanism is allowed to continue, the bad sequence can regrow.

  • So, scientists intervene during the auto-repair process by supplying the correct sequence of genetic codes, which attaches to the broken DNA strand.

  • The entire process is programmable, and has remarkable efficiency, though the chances of error are not entirely ruled out.

Limitations

  • CRISPR-Cas9 system can also recognise and cut parts of the genome other than the intended portion. 

  • Such “off-target” effects are more common when using the SpCas9 enzyme derived from Streptococcus pyogenes bacteria. 

  • Scientists have been able to engineer versions of SpCas9 with higher fidelity but only at the cost of editing efficiency

Recent Findings

  • Recent studies identified numerous mutations in genes like RAD51C that also increase cancer risk, emphasizing a spectrum of genetic risk.

  • These findings support tailored prevention strategies and treatments, improving cancer management and early detection.

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Learnerz IAS | Concept oriented UPSC Classes in Malayalam: BRCA Genes and Hereditary Cancer UPSC NOTE
BRCA Genes and Hereditary Cancer UPSC NOTE
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Learnerz IAS | Concept oriented UPSC Classes in Malayalam
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