Saliva samples from general population could ‘crack the code’
Rutgers professors Steve Buyske and Tara Matise have launched a major breast cancer study. People across the U.S. can now contribute to critical cancer research without leaving the comfort of their own home.
Rutgers University professors have launched a major study into the underlying genetics of breast cancer that makes it easy for any U.S. resident age 18 or older to participate. All that’s needed is to fill out a brief online questionnaire and mail in a sample of their saliva.
Those simple acts could lead to new breakthroughs in treating a disease that killed an estimated 42,000 U.S. women in 2024.
“You don’t need to go to a doctor’s office, and you don’t need to spend more than 20 minutes,” says Steve Buyske, a professor of statistics in the School of Arts and Sciences. “But you’d be making a significant contribution.”
Buyske and Tara Matise, a Distinguished Professor of Genetics in SAS, are leading the study that seeks to identify new genetic mutations, or variants, that can cause breast cancer, which is the second leading cause of cancer death among U.S women behind lung cancer.
“One reason we’re doing this study is the number of people that breast cancer touches,” says Matise, chair of the Department of Genetics. “The second reason is the limited information we still have about the genetic causes even after many years of focused research.”
The study, which is funded by Regeneron Pharmaceuticals of Tarrytown, NY, aims to enroll 10,000 participants, who can be of any gender, and with or without a history of breast cancer. Working with Matise and Buyske on the study is Rutgers Cancer Institute of New Jersey professor Gregory Riedlinger.
Participants will get a “spit kit” mailed to them with return postage paid. Participants can also opt to receive comprehensive information on their genetic ancestry—such as what they would receive from personal genomic services like 23andMe—at no cost.
To learn how to participate in the study, click here.
Participants can contribute to a breast cancer study by sending in a saliva sample.The study comes as a new American Cancer Society report finds that the incidence of breast cancer in women has continued to increase, rising by 1% a year between 2012 and 2021. And in an alarming new trend, women under 50 saw a bigger increase in breast cancer than women over 50.
“Typically, the disease occurs in women older than age 50, so it’s concerning that women younger than age 50 saw a steeper increase in breast cancer,” the ACS says in a published article on the report.
Overall, the ACS estimated 310,720 new cases of invasive breast cancer among US women in 2024, with 42,250 women dying from the disease.
Advances in treatment and early detection have helped reduce the death rate for breast cancer among U.S women by 44 percent from its peak in 1989. But scientists still have much work to do in understanding the role of inherited genetic variants. For example, Matise notes, the harmful changes in the BRCA1 and BRCA2 genes that that lead to cancer explain only a portion of the genetic causes of breast cancer.
“We know there are many more changes in our genes that play a role in a person’s risk of getting breast cancer that have not yet been identified,” Matise says. “Every new relevant genetic variant that we find has the potential to lead to new treatments and increase risk assessment in the future.”
And by doing a large-scale study, the researchers say there’s a better chance of uncovering links between variants and breast cancer subtypes that will ultimately “crack the code,” paving the way for more personalized approaches to prevention, diagnosis, and treatment.
“The bigger your study, the subtler the signals you can find,” Buyske said.
"Contributing 20 minutes of your time to participate in a study is a deep and meaningful contribution," says Rutgers professor Steve Buyske, a four-time cancer survivor.The researchers also aim to recruit a diverse set of participants, noting longstanding racial and ethnic disparities in breast cancer incident and death rates.
The recent ACS report, for example, found that Asian American and Pacific Islander women had the fastest increase in breast cancer incidence. Black women are 38% more likely to die from breast cancer even though they are 5% less likely to be diagnosed with the disease.
“There is an overwhelming preponderance of white people in genetic studies,” Matise said. “And that’s something many scientists recognize is a problem and are trying to change.
“Our goal is to be as diverse as we can with our subject population.”
The study will use a technology called Whole Exome Sequencing that produces highly detailed genetic information and can detect variants that are rare in the population.
For Buyske, a Rutgers faculty member for more than 25 years, working on the study hits home in a personal way. He is a four-time cancer survivor.
He recalled how during his health battles some people stepped up and helped out, while others seemed uncertain how to respond.
“I think some people feel awkward because they want to do something, but don’t know what they can do,” Buyske said. “Contributing 20 minutes of your time to participate in a study is a really deep and meaningful way to help.
“I’m convinced that what we’re doing will help people in the future, and I don’t mean the distant future.”