Genetic variants in estrogen receptor pathways a risk for breast cancer

NEWS IN BRIEF — Posted Jan. 17, 2005

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A woman's risk of developing breast cancer is due in part to a group of very small variations in genes that code for a cell's estrogen receptors, according to a collaborative study that appeared in the Dec. 15, 2004, issue of Cancer Research.

Researchers led by Bert Gold, PhD, a scientist in the National Cancer Institute's Center for Cancer Research, studied the association between breast cancer risk and very small differences in the genes coding for estrogen and progesterone receptors, called single nucleotide polymorphisms.

Of 17 single nucleotide polymorphisms of the estrogen receptor gene called ESR1, there were two polymorphisms associated with breast cancer susceptibility.

One was associated with disease only in women older than 50; additionally, this polymorphism was very rare in the African-American population. The other polymorphism was associated only with disease in Ashkenazi Jewish women older than 50.

"We were pleasantly surprised to discover that some women have some genetic protections from breast cancer," Dr. Gold said.

"We know that half of familial breast cancer is due to genetic factors other than BRCA1 and BRCA2," said Kenneth Offit, MD, a cancer geneticist at Memorial Sloan-Kettering and a co-author of the study. "These finding suggest that genetic variants in estrogen receptor pathways may be one of many such risk factors."

Note: This item originally appeared at

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