Breast cancer mutations mapped out

Breast Cancer Research Features
Dr Serena Nik-Zainal – Research Lead of the Breast Cancer Somatic Genetics Study at the Wellcome Trust Sanger Institute

Largest-ever study of its kind discovers main genetic mutations that cause breast cancer. By sequencing whole genomes of the disease, scientists hope to develop personalised treatments for breast cancer patients.

Over 500,000 women die globally each year from breast cancer. Unfortunately, due to limited treatment availability and late detection, developing countries are the hardest hit by the disease – with disproportionately higher mortality rates. A team of breast cancers researcher from around the world, led by Dr Serena Nik-Zainal of the Wellcome Trust Sanger Institute, have been working on a ground breaking project to sequence whole genomes of breast cancers.


The new landmark study aimed to identify all of the genetic changes that cause breast cancer, and developed techniques in the process that could help future research into mapping other types of cancer mutations. In order to better understand the breast cancer tumours, the scientists sequenced 560 breast cancer genomes from patients across Europe, USA and Asia. Impressively, the research team have now catalogued almost all of the genetic mutations that result in breast cancer.


Discussing the implication of the study’s findings, Dr Nik-Zainal says that: “if we can characterise and understand the genetic make-up of each person’s tumour more accurately, we are in a better position to treat that person’s tumour more effectively”. Understanding the genetic mutations that cause the destructive disease, future researchers could potentially develop personalised treatment plans to more effectively help breast cancer patients. Hopefully, Dr Nik-Zainal and her team have now brought forward the process of banishing breast cancer to the back-pages of history.

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