An international research team led by Prof. Robert Winqvist and Adjunct Prof. Helmut Pospiech, both from Oulu, has demonstrated how defects in the PALB2 gene increase the risk for breast cancer.
The functional loss of one copy of the PALB2 gene causes instability in the genome, even though the other copy of the gene is still intact and functioning. The duplication of the DNA is accelerated in PALB2 mutation carriers, which causes stress for the cells. But since the carrier cells at the same time cannot cope with the stress as well as the normal cells from unaffected individuals, PALB2 mutation leads to increased chromosome instability.
These findings provide a new mechanism for early stages of breast cancer development that may also apply to mutations in other genes that predispose for hereditary cancer.
In Finland, a relatively common constitutional mutation in PALB2 seems to account for about 1% of the breast cancer cases. More than 4000 new cases of female breast cancer are diagnosed every year in Finland.
The study was published online on October 24th in the prestigious research journal Nature Communications.
Last updated: 25.10.2013