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Gene mutation doubles breast cancer risk

Women with a mutation in the PALB2 gene are at twice the risk of developing breast cancer, compared with women who do not carry the mutation, according to a study carried out by the UK Institute of Cancer Research
Women with a mutation in the PALB2 gene are at twice the risk of developing breast cancer, compared with women who do not carry the mutation, according to a study carried out by the UK Institute of Cancer Research.

The researchers estimated that the faulty PALB2 gene causes about 100 cases of breast cancer in the UK each year. Also, two copies of the gene appear to cause a serious blood disorder in children, according to research published in Nature Genetics.

The PALB2 gene normally repairs mutant DNA, so those with a faulty copy of the gene are more likely to accumulate other genetic damage as well, resulting in cancers.

A team led by Professor Nazneen Rahman studied the DNA of 923 women with breast cancer and a family history of the disease, not triggered by the breast cancer genes BRCA1 or BRCA2.

Ten of the breast cancer patients had a damaged copy of PALB2, compared with none of the 1,084 healthy women in a comparison group. Women with a faulty version of PALB2 were at double the risk of developing breast cancer, increasing lifetime risk from one in nine to around one in five.

Although the study only tested women, the researchers suggest that the same mutant gene could also increase the risk of men developing breast cancer.

The researchers also found that children who had inherited two mutant copies of PALB1 developed an aggressive sub-type of a genetic disease called Fanconi anaemia. The disease was not caused by any of the 11 genes already known to cause Fanconi anaemia and was characterised by a high risk of certain cancers, such as kidney and brain tumours.

In a previous study by Rahman's team entitled "Truncating Mutations in the Fanconi Anaemia J Gene BRIP1 Are Low-penetrance Breast Cancer Susceptibility Alleles," mutations more commonly found in the BRCA1 and the BRCA2 genes played a greater role in breast cancer risk for women in general.

According to recent research, the following gene mutations can raise breast cancer risk:

  • BRIP1 - doubles breast cancer risk by age 60

  • BRCA1 - raises risk ten to twenty-fold by age 60

  • BRCA21 - raises risk ten to twenty-fold by age 60

  • TP531 - raises risk ten to twenty-fold by age 60

  • ATM - raises risk moderately by age 60

  • CHEK2 - raises risk moderately by age 60

    • 4th January 2007

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