Early life gene epimutation may cause breast cancer
Research reveals that around 20 per cent of all cases of the most severe form of breast cancer may arise from the small group of normal tissue cells carrying an epimutation of a specific gene.
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(Press release from UiB)
Cancer is a major health challenge worldwide, affecting many lives. Despite progress in understanding its causes, most cancer forms, including breast cancer, continues to increase in many countries.
Scientists have been looking closely at both genes and the environment, trying to figure out what sets the stage for cancer. One interesting area of study is something called "epimutations." Instead of changes to the actual genes, these are changes in how our genes are turned on or off.
鈥淭his higher risk was found despite the fact that epimutations affected a very small portion of normal cells in the affected individuals鈥�, says professor Per Eystein L酶nning.
May originate from the pregnancy.
While this was a breakthrough, it left the researchers wondering when and where these epimutations happen. In collaboration with other Norwegian researchers, the Bergen researchers dug deeper. Analysing DNA from both breast tissue and white blood from over four hundred breast cancer patients, they made several important discoveries providing new light on the subject.
,鈥嬧�� and was presented at the international SABCS, the worlds largest breast cancer conference in San Antonio on December 6.
For many cases of TNBC, BRCA1 gene epimutations were found in both the white blood cells and tumour tissue. Moreover, epimutations in the white blood cells and tumour tissue from the same individual revealed the same profile.
鈥淭his suggests they might have a common cell origin, possibly occurring very early during pregnancy鈥�, says L酶nning.
Gender differences not previously recorded.
The findings also indicate that as many as around 20 per cent of all TNBC may arise from the small group of normal tissue cells carrying BRCA1 epimutations.
Analysing blood samples from newborns, they found similar BRCA1 epimutations as those detected in cancer patients. Surprisingly, these epimutations happened twice as often in girls than in boys. Finally, no concordance in epimutations between newborns and their parents was observed, arguing against direct inheritance.
鈥淭he fact that epimutations might be happening early during pregnancy challenges conventional theories on carcinogenesis and cancer risk. Moreover, the fact that they occur twice as common in girls than boys reveal an important gender difference not previously recorded鈥�, says L酶nning.
Could be a game changer.
This discovery is opening new avenues for research. The Bergen Breast Cancer Group now works on the exact mechanism of early life epimutations. In addition, in collaboration with WHI investigators, they study whether epimutations in other genes might be linked to other types of cancer.
鈥淯nderstanding this could potentially be a game-changer in how we approach and prevent cancer in the future鈥�, L酶nning concludes.
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Contact info: Professor Per Eystein L酶nning, Email: per.lonning@helse-bergen.no,
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