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Genetics and cancer

This February is World Cancer Day. According to recent data from the World Health Organization, cancer is one of the leading causes of death worldwide. Among those with the worst prognosis are lung, colon and breast cancer (1). The risk factors affecting this group of diseases are mainly environmental and genetic.

Throughout this blog, we will delve into the close relationship between genetics and cancer.

 

The Jolie effect

It has been more than eight years since Angelina Jolie revealed that she had undergone a double mastectomy. The reason behind this operation was that she was a carrier of a mutation in a particular gene, BRCA1. This action did not go unnoticed, and its impact was global (2). Thanks to the fact that the actress made her decision public, thousands of people immediately became aware of genetics’s power and repercussions on health, raising awareness and demanding prevention systems from national health systems. Tests are carried out on millions of women now, and many hereditary breast cancer prevention programs implemented in many countries.

Jolie’s surgery had a significant social, economic and clinical impact. It was a clear example of the critical role of genetic information in making decisions to prevent disease.

 

Epigenetics and Cancer

Epigenetics is a discipline that studies the marks within DNA that can be modified throughout life and can affect one or more genes. And what is known at the epigenetic level? Epigenetics, this much talked about subject, is also related to cancer. Recent reports show how these marks have a very close link with carcinogenesis. Whether these marks are activated or not, it will imply modifications in different regions of the DNA that can lead to cancer (3). Thanks to these discoveries, epigenetic therapeutic targets are being investigated that treat cancer in a completely innovative way.

 

The costs of prevention

What is the impact for us? Estimations agree the prevention of almost 50% of cancers that exist today can be realistic. This percentage would represent a considerable economic saving for any country’s national health care system (4).

It has been several decades since many countries made a clear commitment to prevention. And talking about cancer prevention goes hand in hand with genetics. Five years ago, the United Kingdom estimated savings of almost three million pounds sterling, thanks to cancer’s preventive genetics. They also calculated that a reduction of up to five times in hospital waiting lists is achievable (5).

 

24Genetics, added value

Many years of research have already shown how different genes have direct implications in cancer (6). When the multidisciplinary team of 24Genetics designed the health report, with information on genetic predisposition to more than 200 diseases, a cancer section’s need was very relevant. It led to the creation of the area: Complex diseases: Mutations (https://24genetics.com/docs/24G_X_EN_Health.pdf) in which oncogenes recognized in international guidelines are compiled (7, 8).

In short: genetic information is intangible when it comes to taking care of our health. At 24Genetics, we work to make this information accessible to all; the democratization of genetics is, without a doubt, our most outstanding achievement.

 

Bibliography:

  • (1) World Health Organization. https://www.who.int/cancer/about/facts/es/
  • (2) Evans, D.G.R., et al. The Angelina Jolie effect: how high celebrity profile can have a major impact on the provision of cancer related services. Breast Cancer Res 16, 442 (2014). https://doi.org/10.1186/s13058-014-0442-6
  • (3) You JS, Jones, PA. Cancer genetics and epigenetics: two sides of the same coin? Cancer Cell. 2012 Jul 10;22(1):9-20. DOI: 10.1016/j.ccr.2012.06.008. PMID: 22789535.
  • (4) Angela George, A., et al. Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients. Mainstreaming Cancer Genetics (MCG) Programme bioRxiv 044024; doi:https://doi.org/10.1101/044024.
  • (5) Stewart B.W., et al. cancer prevention as part of precision medicine: ‘plenty to be done’. Carcinogenesis. 2016 Jan;37(1):2-9. DOI: 10.1093/carcin/bgv166. Epub 2015 Nov 20. PMID: 26590901.
  • (6) Forbes SA, et al. COSMIC: somatic cancer genetics at high-resolution. Nucleic Acids Res. 2017 Jan 4;45(D1): D777-D783. DOI: 10.1093/nar/gkw1121. Epub 2016 Nov 28. PMID: 27899578.
  • (7) Kalia, S. et al. Recommendations for reporting secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med 19, 249-255 (2017). https://doi.org/10.1038/gim.2016.190
  • (8) Domchek, S.M., et al. Multiplex Genetic Testing for Cancer Susceptibility: Out on the High Wire Without a Net? Journal of Clinical Oncology. 31, 10, 1267-1270. 2013, doi: 10.1200/JCO.2012.46.9403. PMID: 23460708, https://doi.org/10.1200/JCO.2012.46.9403

Written by Noelia Rojo Lobo

Geneticist

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