Polygenic risk score helpful for women with familial breast CA

Polygenic risk score helpful for women with familial breast CA
For women affected by familial breast cancer, a polygenic risk score based on 22 genomic variants can identify women at high-risk of breast cancer, according to a study published in the Dec. 10 issue of the Journal of Clinical Oncology.

(HealthDay)—For women affected by familial breast cancer, a polygenic risk score based on 22 genomic variants can identify women at high-risk of breast cancer, according to a study published in the Dec. 10 issue of the Journal of Clinical Oncology.

Sarah Sawyer, M.D., of the Peter MacCallum Cancer Centre in Melbourne, Australia, and colleagues identified 1,143 women with from a larger screening of women at high risk for hereditary breast cancer who underwent BRCA1 and BRCA2 mutation screening. Genotyping was performed for 22 breast cancer-associated genetic variants, and a polygenetic was calculated as the sum of the log odds ratios for each allele. Scores were compared with those of 892 controls.

The researchers found that, compared with controls, women with a family history of breast cancer had a highly significant increase of risk alleles. Compared with BRCA-mutation carriers, women who were BRCA1- or BRCA2-negative had a significantly increased polygenic risk. Compared with women with low polygenic risk, non-BRCA1/2 carriers in the top quartile of polygenic risk were significantly more likely to have had early-onset breast cancer (before age 30: odds ratio, 3.37) and had a higher rate of second breast cancer (odds ratio, 1.96).

"Genetic testing for common risk variants in women undergoing assessment for familial breast cancer may identify a distinct group of high-risk women in whom the role of risk-reducing interventions should be explored," the authors write.

More information: Abstract
Full Text (subscription or payment may be required)
Editorial

add to favorites email to friend print save as pdf

Related Stories

Recommended for you

Researcher to cancer: 'Resistance will be futile'

5 hours ago

Turning the tables, Katherine Borden at the University of Montreal's Institute for Research in Immunology and Cancer (IRIC) has evoked Star Trek's Borg in her fight against the disease. "Cancer cells rapidly ...

How does prostate cancer form?

7 hours ago

Prostate cancer affects more than 23,000 men this year in the USA however the individual genes that initiate prostate cancer formation are poorly understood. Finding an enzyme that regulates this process ...

Low risk of malignancy for small complex adnexal masses

14 hours ago

(HealthDay)—For older women with small complex adnexal masses, the overall risk of malignancy is low, according to a study published in the December issue of the American Journal of Obstetrics & Gynecology.

User comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.