Updated 12 May 2016

Mutated genes may trigger breast cancer

It has been discovered that there are 93 genes that, if mutated, will convert a normal breast cell into a breast cancer cell.


Important research has uncovered new genes that play a role in the development of breast cancer.

The 'definitive list'

A study, published online in Nature on 2 May 2016, reports on the discovery of 93 sets of instructions or genes that, if mutated, can cause tumours. 

According to an article by BBC News, “Scientists expect this to be the definitive list, barring a few rare mutations.”

In the same article, Professor Sir Mike Stratton, Director of the Sanger Institute in Cambridge who led the study says:

“There are about 20,000 genes in the human genome.  It turns out, now we have this complete view of breast cancer, that there are 93 of those [genes] that, if mutated, will convert a normal breast cell into a breast cancer cell. That is an important piece of information.”

Read: Decoding breast cancer

This study is an important breakthrough. While the application in practice is still a far way off (it will take still at least a decade before we will see the results of this research flow into daily patient management), the study has greatly increased our understanding of how breast cancer arises.

The study has additional very important aspects. It has developed a methodology that allows for the examinations of other tumours too, and come to a similar understanding how these tumours arise.

Understanding cancer in general

For at least a decade we have known that tumours arise due to genetic alterations in individual cells.

These are largely independent of the underlying tissue and common to many tumours. In future, we may well change our language from “breast cancer” or “colon cancer” or “lung cancer” to “an XYZ driven tumour that has arisen in the breast”.

The study is significant in understanding cancer in general, not only in breast cancer.

It means that the organ of origin of the tumour will be less important than the underlying mechanism of tumour genesis.

Read: Surgeons remove 42 kg tumour

This means that treatment for cancers can be tailored for each patient, based on the genesis of the tumour, which will ultimately lead to better patient care.

In the ultramarathon that is cancer research, this is a significant milestone.

Read more:

6 hidden causes of cancer

Web surfers to help with cancer research

South African universities get R37 million in funding to fight cancer

(Professor Apffelstaedt is an associate professor at the University of Stellenbosch and Head of the Breast Clinic at Tygerberg Hospital)


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