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November 2, 2020
Mayo Clinic study finds 1 in 8 patients with cancer harbor inherited genetic mutations
PHOENIX, Ariz. ― Genetic testing can uncover inherited genetic mutations, and could individualize cancer therapies, improve survival, manage cancer in loved ones and push the boundaries of precision medicine.
In a new study published in JAMA Oncology, scientists with Mayo Clinic's Center for Individualized Medicine conducted genetic testing in more than 3,000 patients who were diagnosed with cancer at Mayo Clinic Cancer Center locations in Arizona, Florida and Minnesota. In all, the scientists found that 1 in 8 patients with cancer had an inherited cancer-related gene mutation. This mutation would not have been detected in half of these patients using a standard guideline-based approach.
"We found that 13.5% of patients had an inherited mutation in a gene associated with the development of their cancer," says Niloy Jewel Samadder, M.D., a Mayo Clinic gastroenterologist and hepatologist, who is the study's author. "Everyone has some risk of developing cancer, and in most cases the disease develops by chance. However, some people are genetically predisposed to developing certain types of cancer, such as breast or colon cancers."
A genetic mutation can cause a gene to malfunction and lead to a cell becoming cancerous. Although many mutations that cause cancer happen by chance in a single cell, the study confirms that nearly 10%–25% are inherited mutations that set off a cycle of events that can lead to cancer.
Dr. Samadder says uncovering these hidden inherited genetic mutations could lead to opportunities for cancer management in families and targeted cancer therapies that can save lives.
In the two-year Interrogating Cancer Etiology Using Proactive Genetic Testing (INTERCEPT) study, Mayo Clinic provided free genetic testing and counseling to 3,084 Mayo Clinic patients as part of their standard cancer care. The project, representing the largest known multicenter study of universal testing of patients with cancer, included a broad mix of cancer stages and types, including breast, colorectal, lung, ovarian, pancreatic, bladder, prostate and endometrial cancers.
The researchers were surprised to find that the standard guidelines physicians relied on to determine which patients with cancer should undergo genetic testing were only able to identify 48% of the patients with an inherited genetic mutation.
"More than half of the patients who developed cancer due to inherited mutations were being missed, and that has major implications for family members," Dr. Samadder says.
"Everyone has some risk of developing cancer, and in most cases the disease develops by chance. However, some people are genetically predisposed to developing certain types of cancer, such as breast or colon cancers." - Dr. Samadder
During the study, when the researchers examined the effects of a genetic mutation discovery, they found that one-third of the patients with the highest-risk cancer genes had a change in their medical management, including the type of surgery or chemotherapy they received.
News Release – Mayo Clinic study finds 1 in 8 patients with cancer harbor inherited genetic mutations "This targeted treatment would have been lost if the patients had not received genetic testing," Dr. Samadder emphasizes.
"Genetic testing is underutilized in cancer care, both for patients and for their families, often due to outdated guidelines that restrict testing to a narrow group of high-risk patients," says Robert Nussbaum, M.D., chief medical officer of Invitae Corporation. "All cancer patients should have access to complete genetic information that can guide their care and inform their families' health." Dr. Nussbaum was a contributing author on the study.
Sharing genetic risks with family members Dr. Samadder says equally important to the discovery of a patient's inherited cancer mutation is the potential for patients to share the heretible-cause of their disease with their relatives, allowing family members to pursue care for earlier disease detection and cancer management.
"We can help prevent cancer in their loved ones because it is genetic, and they share these cancer-causing genetic changes with their children, siblings and others in their families," Dr. Samadder explains. "We can target prevention strategies for those high-risk individuals and hopefully prevent cancer altogether in future generations of their family."
All blood-related family members of patients found to have a genetic mutation were offered free genetic testing. Overall, 1 in 5 of these family members underwent testing. The next steps will be to incorporate the study findings into the care of all patients with cancer at Mayo Clinic.
"Steps are being taken to ensure all patients are offered genomic sequencing to better understand the genes that led to the development of their cancer, and how to precisely target treatment and improve survival," Dr. Samadder says.
Genetic sequencing, deletion and duplication analysis, and variant interpretation was performed at Invitae Corporation in San Francisco. Support for this project was provided by the Mayo Transform the Practice Grant, Mayo Clinic's Center for Individualized Medicine, Desert Mountain Members' CARE Foundation, the David and Twila Woods Foundation, and a Faculty Career Development Award from the Gerstner Foundation (NJS).
Jill Porcellato
CARE Board, Chair 2017 - Current
(2015 – present)
Jill has been a Desert Mountain Member since 2013. She and her husband Larry moved here in 2014 to build their dream home. They fell in love with Desert Mountain as soon as they drove through the gates, and decided on their first visit that this is where they wanted to retire.
Jill began volunteering for CARE two weeks after moving here, wanting to get involved with the community, while building their new home. Jill served on several CARE committees starting in 2014 and joined the board in 2015 and was elected Chair of the Board of Directors in 2017. She is passionate about CARE’s mission to provide funding, saving lives and creating hope through world-class cancer research at Mayo Clinic of AZ and HonorHealth Research Institute. She is extremely proud of the results they have achieved with such a caring community.
Suzanne Paetzer
CARE Vice Chair & Secretary 2021-2023
(2019 - present)
Suzanne and her husband, Steve Clark, have lived in Desert Mountain since 2010. Upon arrival in AZ in 2009, she served with several local nonprofits and served on other community committees. In 2019, Suzanne sought a new experience. CARE volunteering commenced with a conversation on the golf course at Outlaw. The rest is history!
Having been a cancer survivor, CARE's mission spoke directly to her heart. After a year of getting familiar with CARE's operations, she joined the Board and has served in leadership roles. CARE is a dominant force in Desert Mountain as it continues to invest in leading-edge cancer research at Mayo Clinic of AZ and HonorHealth Institute. As CARE grows, so does Suzanne's commitment to help others become aware that it takes a community to make a big impact on such an overwhelming disease!
Derek Hill
CARE Treasurer
2020 – Current
Derek and his wife Rhonda have been Desert Mountain members since 2006. They became full time residents in 2014. Derek and Rhonda have been CARE donors since 2015 and Derek became a CARE Board member in May 2020.
He got involved in CARE because both he and Rhonda are cancer survivors and he was impressed with the results of the research that CARE has funded. He joined the Board to continue CARE’s legacy of promoting cancer awareness and education and funding breakthrough cancer research and treatment initiatives to enhance the quality of life of those affected by cancer.
Michael Blaszyk
CARE Funding Director, 2021 - current
Michael and his wife Leslie have been members of Desert Mountain since the fall of 2013. They moved into the home they built in Saguaro Forest in 2016. Michael and Leslie chose Desert Mountain because of the vast array activities that they could participate in. The hiking trails sealed the deal for them.
Michael is a relatively new member of the CARE Board although he and Leslie, who previously served on the funding committee, have been active supporters since moving to Desert Mountain. Michael’s career in Health Care made engaging in the important work of CARE a natural for him. Michael is deeply committed to finding ways to end the ravages of cancer and support the Desert Mountain community.
Wayne Mailloux
CARE Program and Donor Development Director
2015 - Current
Penny and I have been at Desert Mountain since 1999. We bought our first house in just 3 days, on our first trip here. We have long been committed to the Desert Mountain community, and I have been on the Club Board and the CARE Board for the last 6 years.
CARE ’s mission to fund innovative cancer research resonated with me because, just like everyone else, I knew someone important in my life who was hurt by this insidious disease. In my case it was my mother, taken far too early from my family. The only way to fight cancer is by investing in research to find new cures and new treatments. It just will not happen otherwise. It’s important that we all engage in that fight, and CARE is a great way for the community to come together to do so. Knowing our investments are going into innovative cancer research projects that otherwise would be delayed, or just not get done, is motivating. Knowing that CARE’s partners at HonorHealth and Mayo Clinic of AZ have delivered results; in the first case, by creating early cancer detection advances which vastly expand treatment options and efficacy; and in the second case, by adopting cancer patient genomic research, which helps families identify inherited gene mutations, that also expands early detection and treatment options, and hopefully outcomes, is inspirational. So is being part of a community that CAREs!
Sylvia Owens
Historian, 1997 - Current
Don and I discovered Desert Mountain in the late 80’s in Seattle, Washington. After playing a couple of the course, it was a “no brainer” to buy a lot and prepare for retirement. When we retired in the early ’90s, Desert Mountain was still a small community…..it was a time when you knew everyone on campus.
When I was diagnosed with breast cancer in 1997, the community came together to help and support my journey through all the treatments. Cancer had touched so many loved ones, so we decided to help raise money to fight cancer. This was the birth of CARE. Our first golf event had 102 participants and raised $25,000. The money went to Mayo Clinic of AZ Breast Cancer project. (This research project continues to this day…….it is a vaccine for several types of cancer).
25 years later, CARE has raised 8.6 million for cancer research, funding projects at Mayo Clinic of AZ, and HonorHealth Research Institute. CARE has grown because of the commitment and generosity of Desert Mountain Members and the management team and staff. CARE is a 501(c)(3), with a year around Board, and a Funding Committee whose members have a strong medical background.
It gives me chills to think of the impact our community has made in cancer research. Members Making Miracles!More to come
Multiple Myeloma Adoptive T-Cell Therapy Clinical Trial
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The end goal will be creation of a clinical protocol and manufacturing components for submission as an Investigational New Drug (IND) application to the FDA.
AZ Rare Cancer initiative over a 2-year period designed to achieve three goals:
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