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ACS Research Highlights

Testing Diverse Groups Finds New Breast Cancer Genes

Researchers’ analysis of genetic data from diverse ancestral groups uncovered new genes implicated in the development of breast cancer.

Breast cancer is associated with complex genetic structures that scientists have not yet completely solved. It’s important for researchers to keep finding ways to keep identifying breast cancer-predisposing genes because that knowledge can help researchers understand disease pathways, make more personalized recommendations about screening, change guidelines for advanced genetic testing that's not routinely available, and discover new potential drug targets. 

A large international group of researchers used a recently published gene aggregation method to uncover new genes implicated in the development of breast cancer. Two of the coauthors are with the Population Science team at the American Cancer Society (ACS): Lauren Teras, PhD, and Alpa Patel, PhD. They published their results in Genome Medicine.

The team used data from the Breast Cancer Association Consortium, which has been previously studied in a variety of ways. This group, though, analyzed data that included people of non-European ancestry. “Our method enables gene discoveries that are missed by other approaches because some genetic mutations (also known as genetic variants) affecting breast cancer susceptibility vary between ancestry groups,” the authors say.

Countries Where People Were Recruited for Breast Cancer Genetic Studies

world map with different shades of blue key says sample number per study country

For this study, researchers analyzed genetic data from the Breast Cancer Association Consortium, which includes 83,471 breast cancer patients and 59,199 people without breast cancer. This graphic shows the 33 countries with studies that recruited participants. Of the 142,670 genetic samples, 83.4% were of European Ancestry, 10.7% were Asian, 4.1% were African, and 1.8% were of Latin American and Hispanic ancestry.

The researchers were able to replicate and extend previously reported findings, including:

  • 14 genes that had been previously linked to risk for developing breast cancer: ABRAXAS1, AC058822.1, BTN2A1, FAM72B, FGFR2, FMNL3, KCNN4, LSP1, LYPD5, MAP3K1, MIER3, SRGAP2C, TNNT3, ZNF404
  • The identification of 2 new gene associations that hadn’t been reported before this more diverse study population was used: ACO58822.1 and FMNL3. FMNL3 has been linked with poor prognosis for several other types of cancer.