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New Insights on Racial Disparities of Cancer-Causing Gene Mutations

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  • Genetic mutations are due to the permanent alterations in the DNA sequence of the gene.
  • Scientists have compared the racial differences among cancer-causing genetic mutations.
  • The presence of cancer-causing genes in African Americans help to guide testing recommendations.

New Insights on Racial Disparities of Cancer-Causing Gene Mutations

Genes play an important role in the prevalence of breast and ovarian cancer in African American people, finds a study from the University of Pennsylvania.

The study findings were presented at the San Antonio Breast Cancer Symposium 2016. These findings may help to guide testing recommendations for African American people who are at a risk for cancer.


Payal D. Shah, MD, assistant professor of Hematology/Oncology in Perelman School of Medicine, University of Pennsylvania and Abramson Cancer Center, said, "We know African American women are more likely to be diagnosed with breast cancer before age 45, and are more likely to die from breast cancer at every age than Caucasian women, but we need more information about the pattern of genetic mutations in order to provide more precise and targeted care."

"The patterns suggest biological differences, and potentially different genetic factors. Identifying mutations that disproportionately affect African American women, if there are any, could potentially help guide the genetic testing we do for these at-risk patients."

The research study was conducted by examining DNA samples of 736 women to find 19 different gene patterns that cause breast or ovarian cancer in three groups namely, African Americans with cancer, African Americans without cancer and Caucasian patients without cancer.

Gene mutations are alterations in the DNA sequence of the gene. These inherited mutations are responsible for more than 5-10% of cancers.Previous study results from Caucasian women were compared with African-American people , mutations of BRCA1 and BRCA2 gene were present in both the races. CHEK2 gene mutation was found to be less in young African American women while TP53 cancer-causing gene mutation was more prevalent among the population.

The differences of how frequently African-Americans received gene mutation were called " variants of uncertain significance." This may also be a mutation for which the cancer risk is not known. Around 15% of African American women without cancer received uncertain results when compared to 11% of Caucasian women.

The authors also suggest that the difference may be related to higher proportion of Caucasians and expect that the ability of classifying mutations that cause cancer or not may help to improve more widespread testing even for African Americans.

Shah said, "This study is a first step towards being able to zero in on the mutations that are more prevalent in African American patients, but future research is needed to better understand the patterns of genetic mutations across patient populations."

The study results were found to prove that cancer patients have more mutations when compared to those without cancer. And examining study results of the different races with cancer may help to compare the mutations that are unevenly present in African Americans.

  1. The Genetics of Cancer - ( https://www.cancer.gov/about-cancer/causes-prevention/genetics)

Source: Medindia

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