Team identifies genes that increase risk for triple-negative breast cancer

August 7, 2018, Mayo Clinic
This stylistic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). The chromosome is X-shaped because it is dividing. Introns are regions often found in eukaryote genes that are removed in the splicing process (after the DNA is transcribed into RNA): Only the exons encode the protein. The diagram labels a region of only 55 or so bases as a gene. In reality, most genes are hundreds of times longer. Credit: Thomas Splettstoesser/Wikipedia/CC BY-SA 4.0

A research team led by Fergus Couch, Ph.D., a geneticist at Mayo Clinic, has identified specific genes associated with an increased risk for developing triple-negative breast cancer. Their research was published in the Journal of the National Cancer Institute.

"Triple-negative breast cancer is an aggressive type of cancer that cannot be treated using targeted therapies," says Dr. Couch. "It accounts for 15 percent of breast cancer in the Caucasian population and 35 percent in the African-American population. It is also associated with a high risk of recurrence and a poor five-year survival rate. Our findings provide the basis for better risk management."

Dr. Couch says germ line genetic testing, which evaluates inherited genetic changes that increase the risk of certain cancers in an individual, has helped identify women at increased risk of breast cancer. However, he says it has been more difficult to identify women at elevated risk of triple-negative breast cancer because only inherited mutations in BRCA1 have been linked to this subtype of breast cancer.

Dr. Couch and his colleagues performed genetic testing on 10,901 patients with triple-negative breast cancer from two studies. They tested 21 cancer predisposition in 8,753 patients and 17 genes in the remaining 2,148 patients. They found that alternations in BARD1, BRCA1, BRCA2, PALB2 and RAD51D genes were associated with a high risk for triple-negative breast cancer and a greater than 20 percent lifetime risk for overall breast cancer among Caucasians. They observed a similar trend among African-Americans. In addition, mutations in the BRIP1 and RAD51C genes were linked to a more moderate risk of triple-negative breast cancer.

"This study is the first to establish which genes are associated with high lifetime risks of triple-negative breast cancer," says Dr. Couch. "While previous studies have found genetic variants in BARD1, BRIP1, PALB2 and RAD51C triple-negative breast cancer patients, the current study shows this in more detail, and identifies new specific and strong associations between the susceptibility genes RAD51D and BARD1, and triple-negative breast cancer risk."

Dr. Couch says these findings will enable expanded genetic testing to identify women at risk for and may potentially lead to better prevention strategies.

Dr. Couch says the new findings also may lead to revisions to the National Comprehensive Cancer Network screening guidelines, which currently recommend only BRCA testing when a patient has a family history of or is diagnosed at age 60 or younger.

Explore further: Paper identifies genes associated with risk for aggressive breast cancer

Related Stories

Paper identifies genes associated with risk for aggressive breast cancer

August 7, 2018
A new study published in the Journal of the National Cancer Institute has identified specific genes associated with increased risk for triple-negative breast cancer, providing the basis for better risk management.

Research helps refine role of gene variants in breast cancer risk

December 7, 2016
Inherited pathogenic variants in protein coding genes BARD1 and RAD51D increase a woman's likelihood of developing breast cancer, according to research conducted at Mayo Clinic and presented today at the 2016 San Antonio ...

Triple-negative breast cancer patients should undergo genetic screening

December 2, 2014
Most patients with triple-negative breast cancer should undergo genetic testing for mutations in known breast cancer predisposition genes, including BRCA1 and BRCA2, a Mayo Clinic-led study has found. The findings come from ...

Study identifies new potential treatment option for triple negative breast cancer

May 21, 2018
In a recent study published in the Journal of Clinical Investigation, Mayo Clinic researchers identified that an FDA drug approved for myelodysplastic syndrome may be useful to treat triple-negative breast cancer, which is ...

Research test identifies BRCA2 gene mutations that lead to breast, ovarian cancers

January 25, 2018
A new test developed by researchers at Mayo Clinic shows which mutations in the BRCA2 gene make women susceptible to developing breast or ovarian cancers. The research behind the test was published today in the American Journal ...

Genetic predisposition to breast cancer due to non-brca mutations in ashkenazi Jewish women

July 20, 2017
Genetic mutations in BRCA1 and BRCA2 increase the risk of breast and ovarian cancer in Ashkenazi Jewish women. A new article published by JAMA Oncology examines the likelihood of carrying another cancer-predisposing mutation ...

Recommended for you

Why some cancers affect only young women

October 19, 2018
Among several forms of pancreatic cancer, one of them specifically affects women, often young. How is this possible, even though the pancreas is an organ with little exposure to sex hormones? This pancreatic cancer, known ...

Scientists to improve cancer treatment effectiveness

October 19, 2018
Together with researchers from the University of Nantes and the University of Reims Champagne-Ardenne in France, experts from the National Research Nuclear University MEPhI have recently developed a quantum dot-based microarray ...

Mutant cells colonize our tissues over our lifetime

October 18, 2018
By the time we reach middle age, more than half of the oesophagus in healthy people has been taken over by cells carrying mutations in cancer genes, scientists have uncovered. By studying normal oesophagus tissue, scientists ...

Study involving hundreds of patient samples may reveal new treatment options of leukemia

October 17, 2018
After more than five years and 672 patient samples, an OHSU research team has published the largest cancer dataset of its kind for a form of leukemia. The study, "Functional Genomic Landscape of Acute Myeloid Leukemia", published ...

A 150-year-old drug might improve radiation therapy for cancer

October 17, 2018
A drug first identified 150 years ago and used as a smooth-muscle relaxant might make tumors more sensitive to radiation therapy, according to a recent study led by researchers at The Ohio State University Comprehensive Cancer ...

Loss of protein p53 helps cancer cells multiply in 'unfavourable' conditions

October 17, 2018
Researchers have discovered a novel consequence of loss of the tumour protein p53 that promotes cancer development, according to new findings in eLife.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.