Defective gene doubles risk of breast cancer
Women whose copy of the so-called PALB2 gene is damaged are twice as likely to develop breast cancer. In addition, this could also be one of the causes of Fanconi anemia – a very rare, often fatal blood disease in children, doctors around Nazneen Rahman suspect .
The team from the British Institute for Cancer Research examined 923 women with breast cancer whose families had previously had the corresponding tumors, but in whom the known breast cancer genes BRCA1 and BRCA2 could be ruled out as the cause. Ten of the cancer patients had a defective PALB2 gene, while none of the 1084-strong comparison group did. Around 100 women in the UK probably get breast cancer every year because of this, Rahman estimates. In addition, altered PALB2 could also trigger carcinogenic changes in men - however, they were not the aim of the study.
At the same time, researchers led by Bing Xia from Harvard Medical School  discovered that children suffering from a certain type of Fanconi anemia had inherited two defective copies of the gene. So far, eleven genes have been known to be responsible for the development of the disease. Defective PALB2 also greatly increases the risk of kidney and head cancer.
PALB2 is normally responsible for repairing mutated DNA. If it is damaged, more defective cells accumulate in the affected group of people and increase the susceptibility to cancer.