New breast cancer risk gene
Mutation doubles women's risk of breast cancer
22 April 2002 MEERA LOUIS
Scientists have identified another gene mutation that raises the risk of breast cancer in men and women. The insight could ultimately improve screening programmes and help doctors to tailor chemotherapy to patients' needs.
A mutation in the gene CHEK2 may account for 1% of all breast cancers in women, and 9% of those in men, concludes a 5-year study of 718 families in Europe and North America1. The gene is thought to be involved in repairing damaged DNA. A mutation in it doubles a woman's risk of developing breast cancer.
"This discovery opens the door for finding other low-risk genes that increase a person's chance of getting breast cancer," says Nazneen Rahman of the Institute of Cancer Research in Surrey, UK, one of the international research team that discovered CHEK2's link to the disease.
Around 10 per cent of women in Europe and the United States develop breast cancer, usually after the age of about 50. About five per cent of all cases are thought to be due to some inherited genetic susceptibility.
The CHEK2 mutation confers a lower risk of breast cancer than mutations in the genes BRCA1 or BRCA2, which are associated with 38% of breast cancers. But the CHEK2 mutation is more common in the general population.
"This raises the possibility that it contributes to a significant proportion of breast-cancer cases," says Ashok Venkitaraman, who studies inherited breast-cancer genes at the University of Cambridge, UK.
Environment, lifestyle and other genetic factors also play an important role in susceptibility to breast cancer, Rahman points out. And a CHEK2 mutation does not increase the risk of breast cancer in people who also carry mutations in BRCA1 or BRCA2.
The CHEK2-Breast Cancer Consortium, Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nature Genetics, doi:10.1038/ng879 (2002).
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