An Affiliate Chapter of Sisters Network Inc.

     ~ A National African American Breast Cancer Survivorship Organization ~

Disclaimer Notice | © 2004 Sisters Network® Inc. All rights reserved | Site Designed by Oliver Consulting Services

NCCC scientist leads groundbreaking study

    Esther John, Ph.D., was featured in the December 26, 2007 issue of the Journal of the American Medical Association for her work on one of the largest multiracial studies of mutations in a gene linked to breast and ovarian cancer. The study explored whether breast cancer patients of different race/ethnicity are more or less likely to carry a harmful mutation in a breast cancer gene called BRCA1.

    Genes are inherited from our parents and their function, among other things, is to regulate the growth of cells and repair damaged DNA in our body.  If these genes are damaged, or what we call mutated, they may not perform these functions.  BRCA1 is a gene that interacts with many other genes and plays an important role in the regulation of cell cycles and DNA repair.  Mutations in the BRCA1 gene greatly increase the risk of developing breast or ovarian cancer.

    The researchers knew from previous studies that breast cancer patients are more likely to carry a BRCA1 mutation if: 1) they were diagnosed before age 35 years, 2) have a strong family history of breast or ovarian cancer (multiple family members with breast oar ovarian cancer), or 3) are of Ashkenazi Jewish ancestry.  Most of these studies included non-Hispanic white women.  Therefore, little information was available on how common harmful mutations are in other populations such as Hispanic, African American or Asian American patients.

    Harmful mutations in the BRCA1 gene are relatively rare, but women who have such a mutation are about five times more likely to get breast cancer in their lifetime than women who do not have such mutations.  Women with a BRCA1 mutation are also three times more likely to get ovarian cancer in their lifetime.

    The study was conducted by analyzing blood samples from over 1,700 breast cancer patients currently participating in the Northern California Family Registry for Breast Cancer.  The patients were either diagnosed before age 35, or they had a family history of breast or ovarian cancer.

Also included were a random sample of patients who were diagnosed at age 35 to 64 who did not have other family members with breast or ovarian cancer.

    The research team found that harmful mutations in the BRCA1 gene were more common among Hispanic breast cancer patients than among non-Hispanic white patients, and they were least common among Asian-American patients.

    The researchers also found that harmful mutations were most common in patients who were diagnosed at a young age.  This was true for all racial/ethnic groups.  In patients diagnosed before age 35, the prevalence was particularly high in young African American patients:  16% or 16 in 100 patients had a harmful BRCA1 mutation, compared to 8.9% in Hispanic patients, 7.2% in white patients without Jewish ancestry, and 2.4% in Asian-American patients.

    In 1995, the National Cancer Institute established the Breast Cancer Family Registry (BCFR) at six medical research institutions in the :US, Canada and Australia in order to facilitate interdisciplinary research on the genetics of breast cancer. Over the last thirteen years, the Northern California Family Registry, along with its five international partner sites, have contributed to the creation of a unique and powerful resource that can address many of the unanswered questions on the causes and prevention of breast cancer.

Gene mutation more common in Hispanic, young black women

To find out more about Dr. John's study and to see her research, visit www.nccc.ort/Esther_John

To find out more about the Northern California Family Registry for Breast Cancer, visit www.nccc.org/bc-family-registry