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Major study gives most comprehensive map of breast cancer risk

In a major study of hereditary breast cancer, a global network of researchers (including some from Lund University) has identified over 350 faults in DNA that increase an individual’s risk of developing the disease. The researchers believe that these faults can affect as many as 190 genes.

Published in Nature Genetics, a scientific journal, the results are said to be the thus far most comprehensive map of breast cancer risk variants. Although the study was led from England, several researchers from Lund participated. One of these was Håkan Olsson, post retirement professor and former consultant at Skåne University Hospital.

“The study shows that many gene variants can increase the risk of breast cancer. Sometimes, there are several variants that affect the same gene and, thereby, the breast cancer risk. Sometimes, there is just one change per gene.”

 Olle Dahlbäck

Håkan Olsson, one of the Lund researchers who participated in the global, breast cancer study. Photo: Olle Dahlbäck

In a press release, the University of Cambridge writes: “The majority of the DNA is identical between individuals, but there are some differences, known as genetic variants, and these changes can have a profound effect, increasing an individual’s susceptibility to disease.”

“The landscape is complex. It features not only a few very strong genes that are quite rare and present strong risks, but also a large number of genes that are more common and linked with a slight risk increase. However, if a patient has several of these latter working together, the risk can be significant,” states Håkan.

“The historically first to be characterised strongly predisposing genes give rise to mutations that completely switch off the function of a protein. Rather than having this effect, the genes identified in this study often affect the amount of a protein that is expressed. Furthermore, the study’s gene variants are more often in non-protein-coding regions of a gene. The predisposing gene variants affect known functions in breast cells, e.g. cell division, DNA repair, metabolism, hormonal factors and immune system.”

HUNDREDS OF INSTITUTIONS BEHIND THE STUDY

In total, researchers from hundreds of institutions worldwide collaborated in the study. They compared DNA from 110,000 patients diagnosed as having breast cancer with the DNA of 90,000 healthy individuals. Some of the input material was generated in Lund.

“Because Sweden, Lund in particular, started oncology clinics early on and built up comprehensive biobanks, we were able to participate at the front line of this research. As material from southern Sweden was involved in the analyses, we also know that the findings are relevant for our patient population.”

What can the study’s newly gained knowledge contribute to preventing the risk of an individual being affected by hereditary breast cancer in the future?

“The study has increased our knowledge of how breast cancer arises. Thus, we can more reliably assess the risks for breast cancer individuals and their families. This can lead to preventive measures, early diagnosis and, perhaps, treatment that is more individualised.”

Professor Doug Easton, University of Cambridge, one of the English researchers behind the study comments:

“Our work would not have been possible without the 200,000 volunteers who allowed us to study their DNA.”

 

The scientific article in Nature Genetics

In a major study of hereditary breast cancer, a global network of researchers (including some from Lund University) has identified over 350 faults in DNA that increase an individual’s risk of developing the disease. The researchers believe that these faults can affect as many as 190 genes.

Published in Nature Genetics, a scientific journal, the results are said to be the thus far most comprehensive map of breast cancer risk variants. Although the study was led from England, several researchers from Lund participated. One of these was Håkan Olsson, post retirement professor and former consultant at Skåne University Hospital.

“The study shows that many gene variants can increase the risk of breast cancer. Sometimes, there are several variants that affect the same gene and, thereby, the breast cancer risk. Sometimes, there is just one change per gene.”

Håkan Olsson, one of the Lund researchers who participated in the global, breast cancer study. Photo: Olle Dahlbäck

In a press release, the University of Cambridge writes: “The majority of the DNA is identical between individuals, but there are some differences, known as genetic variants, and these changes can have a profound effect, increasing an individual’s susceptibility to disease.”

“The landscape is complex. It features not only a few very strong genes that are quite rare and present strong risks, but also a large number of genes that are more common and linked with a slight risk increase. However, if a patient has several of these latter working together, the risk can be significant,” states Håkan.

“The historically first to be characterised strongly predisposing genes give rise to mutations that completely switch off the function of a protein. Rather than having this effect, the genes identified in this study often affect the amount of a protein that is expressed. Furthermore, the study’s gene variants are more often in non-protein-coding regions of a gene. The predisposing gene variants affect known functions in breast cells, e.g. cell division, DNA repair, metabolism, hormonal factors and immune system.”

HUNDREDS OF INSTITUTIONS BEHIND THE STUDY

In total, researchers from hundreds of institutions worldwide collaborated in the study. They compared DNA from 110,000 patients diagnosed as having breast cancer with the DNA of 90,000 healthy individuals. Some of the input material was generated in Lund.

“Because Sweden, Lund in particular, started oncology clinics early on and built up comprehensive biobanks, we were able to participate at the front line of this research. As material from southern Sweden was involved in the analyses, we also know that the findings are relevant for our patient population.”

What can the study’s newly gained knowledge contribute to preventing the risk of an individual being affected by hereditary breast cancer in the future?

“The study has increased our knowledge of how breast cancer arises. Thus, we can more reliably assess the risks for breast cancer individuals and their families. This can lead to preventive measures, early diagnosis and, perhaps, treatment that is more individualised.”

Professor Doug Easton, University of Cambridge, one of the English researchers behind the study comments:

“Our work would not have been possible without the 200,000 volunteers who allowed us to study their DNA.”

Link to original article published by OLLE DAHLBÄCK - 3 January 2020

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