Gene mutation linked to breast cancer risk

Screening for mutations in a gene known as CHEK2 may help determine a woman's odds of breast cancer if the disease runs in her family, according to a Polish study.

Researchers led by Cezary Cybulski of the Pomeranian Medical University in Szczecin estimated that a woman who carries a CHEK2 mutation would have a 34 percent risk of developing breast cancer if her mother or sister had the disease.

US experts, however, caution that Polish women might be different than those in the United States and say that the test isn't quite ready for widespread use yet.

Women with a family history of breast or ovarian cancer are already encouraged to get screened for mutations in the BRCA 1 and 2 genes that warn of a heightened tumor risk.

"CHEK2 mutation screening detects a clinically meaningful risk of breast cancer and should be considered in all women with a family history of breast cancer," Cybulski writes in the Journal of Clinical Oncology.

They estimated that a woman with a CHEK2 mutation has a risk of 20 percent. If she also has a mother or sister with breast cancer, her risk jumps to 34 percent, and to 44 percent if a second-degree relative is also ill.