Multiethnic Breast Cancer Research Presented at AACR Annual Meeting in Philadelphia

HERV and breast cancer risk assessed; genetic risk factors for lymphedema identified
Monday, April 20, 2015

BUFFALO, N.Y. — Roswell Park Comprehensive Cancer Center scientists examined genetic risks for breast cancer in two separate multiethnic epidemiologic studies. Results of one study showed a twofold increase in the prevalence of human endogenous retroviruses (HERVs) K113 and K115 in African-American women compared to European American women. These HERVs are present in the human genome and may offer certain protection against breast cancer. Another research effort, the largest study of its kind to date, found a potential biological mechanism of cancer in a multiethnic cohort of breast cancer survivors. The results from both studies were presented at the American Association for Cancer Research Annual Meeting 2015, being held April 18-22 in Philadelphia.

Human Endogenous Retroviruses and Breast Cancer Risk

This is the first study to document the prevalence of HERVs K113 and K115 in African-American and European American women, and to report an inverse association with breast cancer risk. HERVs constitute part of the human genome and may have the potential to protect against the development of cancer. This study investigated the distribution of HERV K113 and K115 in a multicenter case-control study of 1,242 breast cancer patients (608 African-American and 634 European American women) and 1,422 controls (783 African-American and 639 European American women).

Researchers found a twofold higher prevalence of HERVs among African-American women with 50% showing at least one copy of either K113 or K115, compared to 19.9% in European American women. A nearly 50% reduction of breast cancer risk was observed in both groups with homozygous insertion of K113. Although HERV K113 and K115 insertion is more common in African-American women, the inverse association with breast cancer risk is stronger in European American women.

Li Tang, PhD, Associate Professor of Oncology at Roswell Park, is the first author and Christine Ambrosone, PhD, Chair of the Department of Cancer Prevention and Control at Roswell Park, is the senior author of “Associations between insertional polymorphisms of human endogenous retrovirus K113 and K115 and breast cancer risk in African-American and European women” (abstract 2789).

Genetic-Association Study of Breast-Cancer-Related Lymphedema

Lymphedema is a common chronic condition resulting from surgical removal of the lymph nodes in breast cancer patients. Currently, there is no cure for breast-cancer-related lymphedema, and early diagnosis is critical for symptom management. In a study of 2,756 breast cancer survivors (208 African-Americans, 344 Asian Americans, 1,789 European Americans and 344 Hispanic/Latino Americans) from the prospective Pathways Study conducted by Kaiser Permanente Northern California, 134 common single-nucleotide polymorphisms (SNPs) in eight genes implicated in primary lymphedema were evaluated.

SNPS in several genes were significantly associated with the risk of lymphedema. Overall, the discovery of SNPs in genes implicated in hereditary primary lymphedema indicated the potential of predictive biomarkers for patients and suggests shared mechanisms underlying primary and secondary lymphedema. These genetic variations have the potential to predict patients at risk for lymphedema.

Song Yao, PhD, Associate Member of the Department of Cancer Prevention and Control at Roswell Park, is the first author and Marilyn Kwan, PhD, Research Scientist II in the Division of Research at Kaiser Permanente Northern California, is the senior author of “Genetic variations associated with breast cancer-related lymphedema in a prospective multiethnic cohort” (abstract 2791).

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The mission of Roswell Park Comprehensive Cancer Center is to understand, prevent and cure cancer. Founded in 1898, Roswell Park is one of the first cancer centers in the country to be named a National Cancer Institute-designated comprehensive cancer center and remains the only facility with this designation in Upstate New York. The Institute is a member of the prestigious National Comprehensive Cancer Network, an alliance of the nation’s leading cancer centers; maintains affiliate sites; and is a partner in national and international collaborative programs. For more information, visit www.roswellpark.org, call 1-800-ROSWELL (1-800-767-9355) or email AskRoswell@Roswellpark.org. Follow Roswell Park on Facebook and Twitter.

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