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<h2 class="element-invisible">You are here</h2><div class="breadcrumb"><a href="/">Home</a> » <a href="/news-events">News & Events</a> » <a href="/news-events/nih-research-matters">NIH Research Matters</a></div> <div class="l-region l-region--section-header">
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<p class="publishdate"><span property="dc:date" datatype="xsd:dateTime" content="2024-06-04T00:00:00-04:00" class="date-display-single">June 4, 2024</span></p><div class='syndicate'><h1>Gene variants and breast cancer risk in Black women</h1><div class="callout callout-with-border"><h3>At a Glance</h3>
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<li>In the largest study of its kind, researchers identified genetic variants that appear to boost breast cancer risk among females of African ancestry.</li>
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<li>The findings could help improve risk prediction in this population and lead to more targeted therapies and prevention strategies.</li>
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</ul></div><div class="media-float-right"><div class="ds-1col file file-image file-image-jpeg view-mode-floated_media clearfix">
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<picture title="Adult daughter kissing smiling mother.">
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<source srcset="https://www.nih.gov/sites/default/files/styles/floated_media_breakpoint-large/public/news-events/research-matters/2024/20240603-breast-cancer.jpg?itok=QUT6YZTP&timestamp=1717452607 1x" media="screen and (min-width: 960px)" />
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<source srcset="https://www.nih.gov/sites/default/files/styles/floated_media_breakpoint-medium/public/news-events/research-matters/2024/20240603-breast-cancer.jpg?itok=UVTfkkPQ&timestamp=1717452607 1x" media="screen and (min-width: 800px)" />
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<source srcset="https://www.nih.gov/sites/default/files/styles/floated_media_breakpoint-medium-small/public/news-events/research-matters/2024/20240603-breast-cancer.jpg?itok=W8YMMmJ_&timestamp=1717452607 1x" media="screen and (min-width: 600px)" />
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<source srcset="https://www.nih.gov/sites/default/files/styles/floated_media_breakpoint-small/public/news-events/research-matters/2024/20240603-breast-cancer.jpg?itok=uEV4H3fV&timestamp=1717452607 1x" media="screen and (min-width: 480px)" />
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<source srcset="https://www.nih.gov/sites/default/files/styles/floated_media_breakpoint-tiny/public/news-events/research-matters/2024/20240603-breast-cancer.jpg?itok=XeNnBq4w&timestamp=1717452607 1x" media="screen and (min-width: 0)" />
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<img src="https://www.nih.gov/sites/default/files/styles/floated_media_breakpoint-medium/public/news-events/research-matters/2024/20240603-breast-cancer.jpg?itok=UVTfkkPQ&timestamp=1717452607" alt="Adult daughter kissing smiling mother." title="Adult daughter kissing smiling mother." />
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</picture><span class="caption">Most studies of genes that affect breast cancer risk in the past focused on women of European ancestry. </span><span class="credit">AlessandroBiascioli / Shutterstock</span></div>
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</div><p>Breast cancer is the most often diagnosed cancer in many parts of the world, including the U.S. More than 310,000 new cases are expected nationwide this year.</p>
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<p>Black women tend to develop breast cancer at a younger age than White women. Black women are also more likely than Whites to die from the disease, and they are twice as likely to develop an aggressive subtype called triple-negative breast cancer. But despite the increased risks faced by women of African descent, most large-scale genetic studies of breast cancer to date have focused on women of European ancestry.</p>
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||
<p>To better understand their unique genetic risks, a research team led by Dr. Wei Zheng of Vanderbilt University analyzed genetic data from over 40,000 females of African descent. About 18,000 had been diagnosed with breast cancer. The data were gathered as part of the NIH-funded African Ancestry Breast Cancer Genetic consortium, which combined data from 26 studies. Most participants (85%) were African Americans. The rest were from Barbados or Africa.</p>
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||
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||
<p>The researchers conducted a genome-wide association study (GWAS) to look for genetic variants that are found more often in participants with breast cancer than in those without. This is believed to be the largest GWAS study to date of breast cancer in this population. Results were reported in <em>Nature Genetics</em> on May 13, 2024.</p>
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||
<p>The analysis pinpointed 12 genetic regions, or loci, associated with breast cancer. Three of these loci were linked to the aggressive triple-negative cancer. About 8% of the women carried two genetic copies of risk variants in all three of these loci. Such women, the researchers found, were 4.2 times more likely to be diagnosed with triple-negative breast cancer than women who had only one or no copies of the variants.</p>
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||
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||
<p>Because this type of cancer lacks specific cell receptors often seen with breast cancer (like estrogen or HER2 receptors), there are fewer targeted options for treatment. These findings may help researchers identify new treatment targets.</p>
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||
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||
<p>The researchers also confirmed many breast cancer risk variants that were found earlier in other populations. And they identified an uncommon risk variant in the gene <em>ARHGEF38</em>, which had been previously linked to aggressive prostate and lung cancers.</p>
|
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||
<p>The scientists used their findings to create polygenic risk scores (PRS) for breast cancer risk in females of African descent. PRS use genomic data to gauge the chance that a person will develop a certain medical condition. PRS created previously, using results from other populations, tend to perform poorly at predicting breast cancer risk for Black women. The new PRS, based on genomic data from African descendants, outperformed previous PRS at predicting breast cancer risk in this population.</p>
|
||
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||
<p>The findings and data could lead to improved detection of breast cancer in this at-risk population and provide clues for potential treatment targets. Studies with even larger, more diverse populations will be needed to further improve the prediction of breast cancer risk.</p>
|
||
|
||
<p>“We have worked with researchers from more than 15 institutions in the U.S. and Africa to establish this large genetic consortium,” Zheng says. “Data put together in this consortium have been and will continue to be used by researchers around the world.”</p>
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<p>—by Vicki Contie</p></div><h2 class="label-above">Related Links</h2><ul class="spaced print-urls"><li><a href="https://www.nih.gov/news-events/nih-research-matters/human-pangenome-boosts-accuracy-reflects-diversity" target="_top">Human Pangenome Boosts Accuracy and Reflects Diversity</a></li><li><a href="https://www.nih.gov/news-events/nih-research-matters/technique-may-improve-detection-breast-tumors" target="_top">Technique May Improve Detection of Breast Tumors </a></li><li><a href="https://www.nih.gov/news-events/nih-research-matters/test-predicts-whether-chemotherapy-will-help-early-stage-breast-cancer-patients" target="_top">Test Predicts Whether Chemotherapy Will Help Early-Stage Breast Cancer Patients </a></li><li><a href="https://newsinhealth.nih.gov/2022/02/advances-breast-cancer" target="_top">Advances in Breast Cancer: Screening and Treatment Get Personal</a></li><li><a href="https://www.cancer.gov/types/breast" target="_top">Breast Cancer</a></li><li><a href="https://www.genome.gov/Health/Genomics-and-Medicine/Polygenic-risk-scores" target="_top">Polygenic Risk Scores</a></li></ul><p class="footnote"><strong class="label-inline">References: </strong><a href="https://pubmed.ncbi.nlm.nih.gov/38741014/">Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction.</a> Jia G, Ping J, Guo X, Yang Y, Tao R, Li B, Ambs S, Barnard ME, Chen Y, Garcia-Closas M, Gu J, Hu JJ, Huo D, John EM, Li CI, Li JL, Nathanson KL, Nemesure B, Olopade OI, Pal T, Press MF, Sanderson M, Sandler DP, Shu XO, Troester MA, Yao S, Adejumo PO, Ahearn T, Brewster AM, Hennis AJM, Makumbi T, Ndom P, O'Brien KM, Olshan AF, Oluwasanu MM, Reid S, Butler EN, Huang M, Ntekim A, Qian H, Zhang H, Ambrosone CB, Cai Q, Long J, Palmer JR, Haiman CA, Zheng W. <em>Nat Genet.</em> 2024 May;56(5):819-826. doi: 10.1038/s41588-024-01736-4. Epub 2024 May 13. PMID: 38741014.</p><p class="footnote"><strong class="label-inline">Funding: </strong>NIH’s National Cancer Institute (NCI).</p>
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<p><strong>Mailing Address:</strong><br />
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NIH Research Matters<br />
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Bldg. 31, Rm. 5B52, MSC 2094<br />
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<p><a href="https://www.nih.gov/news-events/nih-research-matters/research-context-can-we-slow-aging">Research in Context: Can we slow aging?</a></p>
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<p><a href="https://www.nih.gov/news-events/nih-research-matters/brain-changes-observed-during-pregnancy">Brain changes observed during pregnancy</a></p>
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<p><a href="https://www.nih.gov/news-events/nih-research-matters/research-context-detecting-cancer">Research in Context: Detecting cancer</a></p>
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<p><a href="https://www.nih.gov/news-events/nih-research-matters/risk-future-burden-dementia-united-states">Risk and future burden of dementia in the United States </a></p>
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<p><a href="https://www.nih.gov/news-events/nih-research-matters/complete-wiring-map-adult-fruit-fly-brain">Complete wiring map of an adult fruit fly brain</a></p>
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<p><strong>Editor:</strong> Harrison Wein, Ph.D.</p>
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<p><strong>Assistant Editors:</strong> Vicki Contie and Brian Doctrow, Ph.D.</p>
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<p><strong><em>NIH Research Matters </em></strong>is a weekly update of NIH research highlights reviewed by NIH’s experts. It's published by the <a href="/institutes-nih/nih-office-director/office-communications-public-liaison">Office of Communications and Public Liaison</a> in the <a href="/institutes-nih/nih-office-director">NIH Office of the Director</a>.</p>
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