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March 13, 2018

Researchers seeking to understand families at risk for cancer

By Susan Buckles

March is colorectal cancer awareness month — a time to look at the new role of genetics in preventing and treating a common form of cancer that often runs in families. Physician-researchers within Mayo Clinic’s Hereditary Cancer Clinic are seeking to usher in a new era of identification and prevention for those with inherited risk of cancer. With support from the Center for Individualized Medicine, they are offering DNA blood testing to all patients with colon, breast, ovarian, prostate, brain and other cancers. The goal is to identify patients with genetic mutations that are putting them and their families at increased risk for cancer and respond with a proactive, individualized approach.

 

Niloy “Jewel” Samadder, M.D.: “Offering hope of prevention”

Niloy "Jewel" Samadder, M.D.

As a young physician-researcher, Niloy Jewel (Jewel) Samadder, M.D., treated many patients with early onset colon and breast cancers. That inspired him to conduct research into the molecular origins of their cancer.

“If we could find a genetic cause to their cancer, then maybe we could intervene earlier to try to prevent future cancer altogether,” says Dr. Samadder. “Perhaps even more important, we could give patients hope of preventing cancer in the people they love. We could alert close family members that they may be at risk and should be screened regularly to catch cancer at its earliest stage.”

Dr. Samadder notes that 50 percent of all cancers that are precipitated by an underlying genetic mutation are missed using current guidelines – a missed opportunity for families. It is estimated that between 10 and 20 percent of cancers may have an inherited predisposition depending on the cancer type that is inherited in families. Since there are genetic conditions, your family is key: Dr. Samadder says if you have hereditary cancer, there’s a 50 percent chance your closest relatives — mother, father, sisters, brothers, sons or daughters — will have the same genetic mutation that could develop into cancer. Understanding genetic risk of cancer can focus attention on more intensive screening and monitoring. Some patients may even opt for pre-emptive surgeries to prevent cancer from occurring.

A gastroenterologist with a focus in genetics, Dr. Samadder’s cancer research centers on three main areas:

  • Understanding how family history contributes to colorectal cancer risk.
  • Understanding when to start chemotherapy pre-emptively to prevent cancer altogether, a concept called “chemoprevention.”
  • Understanding how to integrate genetics as the regular, daily standard of care for patients with inherited cancer.

“Genetic testing not only helps us identify patients with inherited cancer, it also helps us find the root cause. This may help inform treatment decision-making, which can be targeted toward the specific genes that contribute to tumor growth. We can also consider intervening to prevent new cancer in both the patient and relatives who have the same genetic mutations,” says Dr. Samadder.

Dr. Samadder’s extensive training and experience have come full circle. Early in his career he trained at Mayo Clinic and at the University of Michigan. He then spent many years in cancer-genetics research at the University of Utah’s Huntsman Cancer Institute. Dr. Samadder returned to Mayo Clinic in mid-2017, where he sees patients on Mayo’s Arizona campuses.

“What brought me back to Mayo was its patient-first focus. Mayo stands apart in the way it brings together the three shields of education, research and practice to address the unmet needs of patients and deliver hope and healing,” says Dr. Samadder.

 

Douglas Riegert-Johnson, M.D.: “A new paradigm in cancer treatment”

Faster and cheaper genetic testing has led to a new paradigm in cancer prevention and treatment, according to Douglas Riegert-Johnson, M.D., who leads the Hereditary Cancer Clinic on Mayo Clinic’s Florida campus. In the past, genetic testing for hereditary cancer traits was offered selectively only to a few cancer patients.

Douglas Riegert-Johnson, M.D.

“We’re moving to a model in which almost all cancer patients will have genetic testing for hereditary cancer traits. This information can be important for both cancer treatment and prevention. For example, if we find that a genetic mutation is the cause of a woman’s ovarian cancer, she will receive a different, more aggressive form of chemotherapy than if she didn’t,” says Dr. Riegert-Johnson.

On the prevention side, patients can take steps to prevent a second cancer. For example, a colon cancer patient with the Lynch syndrome cancer trait will have colonoscopies more frequently to prevent a second colon cancer. People with Lynch syndrome, a genetic condition, have a high risk of colon, endometrial, ovary, stomach and other cancers. The children of the patient with Lynch syndrome colon cancer can also be tested for the Lynch syndrome trait. If the test results are positive, they can begin having colonoscopies earlier and more frequently. Research shows patients who know they have hereditary cancer traits and take preventive measures do live longer, says Dr. Riegert-Johnson.

A gastroenterologist and medical geneticist, Dr. Riegert-Johnson has been practicing at Mayo Clinic since 1999 — the last 10 years in Florida. He began his training at Mayo Clinic in general internal medicine, and then studied classical genetics at Johns Hopkins Hospital. Dr. Riegert-Johnson now specializes in GI-tract hereditary cancers.

“I deal with all types of hereditary cancer. I counsel patients on what types of things they can do to prevent cancer including lifestyle changes and what tests would be useful to them or not useful to them,” says Dr. Riegert-Johnson.

During the course of his career, he’s seen cancer take a stressful toll on many families. He is drawn to the work in hereditary cancer by the potential he sees to help cancer patients live longer, higher quality of lives.

“For me, the most personally gratifying thing is to give people good news. A lot of patients have relatives with genetic mutations that predispose them to cancer. And, these patients assume they, too, have inherited cancer-causing genes. If you test them and find they are negative, you can tell that a big weight has been lifted off their shoulders,” says Dr. Riegert-Johnson.

 

Join the conversation

For more information on the Mayo Clinic Center for Individualized Medicine, and how it is transforming care through the discovery, translation and application of precision medicine research, visit our blogFacebookLinkedIn or Twitter at @MayoClinicCIM.

 

Save the date for this year’s Individualizing Medicine Conference. It will be held Sept. 12-13, 2018 in Rochester, Minnesota.

 

 

Tags: #ColorectalCancer, Cancer, DNA Testing, Dr. Douglas Riegert-Johnson, Dr. Niloy"Jewel" Samadder, Genetic Testing, hereditary cancer, Inherited cancer, Mayo Clinic Center for Individualized Medicine, Precision Medicine, Precision Medicine

Does this study include pancreatic cancer or carcinoid tumors? Father and mother had these respectively???

My Mother died @age 56 and had more health prob than u can imagine! She died of cardiac arrest, congestive heart failure.. Kidney failure n more!! I've never done more reading n personal research over past several mo. Mostly cuz my daughter has sezuires and other health prob but I have many myself.. This artical is rt up my ally. I've been trying to tell my family I believe that it started when my mother had complete blood tranfustion as an infant. No1 knows why except some blood disorder. Me and all 4 of my sisters have many of the same type of health prob and no1 but me has ? It! I am in search of answers to better my education and help my daughter and my other children's lives and help them as well to understand what exactly n y they have health related prob themselves! I couldn't believe more than i do now after reading this artical that our health issues are for sure a result of heredity genes! Id really like to know more bout this study and hope to find resolution to my own ?s. Thank You

Liked by tammyleeann

I am a melanoma and cervical cancer survivor. My mother passed away of lung cancer, my father had prostate cancer, my maternal grandmother passed away of brain cancer. What are my

I am a melanoma and cervical cancer survivor. My mother passed away from lung cancer. My father had prostate cancer. My maternal grandmother passed away from brain cancer. Both my mother's sisters were diagnosed with melanoma. What is the criteria for your dna testing? Is this covered by insurance or is the dna testing done as a research trial?

@alan112

I am a melanoma and cervical cancer survivor. My mother passed away of lung cancer, my father had prostate cancer, my maternal grandmother passed away of brain cancer. What are my

I am a melanoma and cervical cancer survivor. My mother passed away from lung cancer. My father had prostate cancer. My maternal grandmother passed away from brain cancer. Both my mother's sisters were diagnosed with melanoma. What is the criteria for your dna testing? Is this covered by insurance or is the dna testing done as a research trial?

Jump to this post

According to Dr. Samadder, "Patients with a personal history of cancer and a family history of cancer should consider evaluation in a genetics clinic. Genetic testing is usually covered by medical insurance, especially in lights of a patient’s own diagnosis of cancer. At a genetics clinic visit, they would review with you the types of testing available based on your personal and family cancer history and the costs (most of which is likely covered by health insurance). The cost of genetic testing has markedly decreased and there are options for self-pay that are less than $300 if for some reason insurance did not cover the test."

@alan112

I am a melanoma and cervical cancer survivor. My mother passed away of lung cancer, my father had prostate cancer, my maternal grandmother passed away of brain cancer. What are my

I am a melanoma and cervical cancer survivor. My mother passed away from lung cancer. My father had prostate cancer. My maternal grandmother passed away from brain cancer. Both my mother's sisters were diagnosed with melanoma. What is the criteria for your dna testing? Is this covered by insurance or is the dna testing done as a research trial?

Jump to this post

I did have a consult with a genetics physician at Mayo Clinic. My derm even ordered genetic testing, but unfortunately, my insurance denied the testing.

@tammyleeann

My Mother died @age 56 and had more health prob than u can imagine! She died of cardiac arrest, congestive heart failure.. Kidney failure n more!! I've never done more reading n personal research over past several mo. Mostly cuz my daughter has sezuires and other health prob but I have many myself.. This artical is rt up my ally. I've been trying to tell my family I believe that it started when my mother had complete blood tranfustion as an infant. No1 knows why except some blood disorder. Me and all 4 of my sisters have many of the same type of health prob and no1 but me has ? It! I am in search of answers to better my education and help my daughter and my other children's lives and help them as well to understand what exactly n y they have health related prob themselves! I couldn't believe more than i do now after reading this artical that our health issues are for sure a result of heredity genes! Id really like to know more bout this study and hope to find resolution to my own ?s. Thank You

Jump to this post

Dr. Samadder recommends that you start a conversation about this with your medical provider or seek consultation in a genetic clinic. If you would like to seek help from Mayo Clinic, please call one of our appointment offices (Arizona: 800-446-2279, Florida: 904-953-0853, Minnesota: 507-538-3270) or request an appointment online: http://www.mayoclinic.org/appointments.

@caschwede

Does this study include pancreatic cancer or carcinoid tumors? Father and mother had these respectively???

Jump to this post

Dr. Samadder recommends that you start a conversation about this with your medical provider or seek consultation in a genetic clinic. If you would like to seek help from Mayo Clinic, please call one of our appointment offices (Arizona: 800-446-2279, Florida: 904-953-0853, Minnesota: 507-538-3270) or request an appointment online: http://www.mayoclinic.org/appointments.

I don't have cancer..yet..but my family history on both my Mothers and my Dad's sides is predominately colon cancer. Would I be eligible for your study?

My mother died from breast cancer at 58. She was a tester for Tamoxifen. My sister had breast cancer and then colon cancer. My cousins have had breast cancer..mu mothers side. I have had cervical/uterine cancer and breast cancer. My daughter who is 44 has had non cancerous lumps in her breasts and my granddaughter is 19. A) Do I qualify for your research? B) Should my daughter have bilateral mastectomy as prevention? C) How can ee protect my granddaughter from this seemingly familial insidious disease?

Also, I had genetic testing for BRACA1. I am negative but thete is a twist in my genes. Insurance would mot cover further testing

@vanderso

I don't have cancer..yet..but my family history on both my Mothers and my Dad's sides is predominately colon cancer. Would I be eligible for your study?

Jump to this post

Dr. Samadder recommends that you start a conversation about this with your medical provider or seek consultation in a genetic clinic. If you would like to seek help from Mayo Clinic, please call one of our appointment offices (Arizona: 800-446-2279, Florida: 904-953-0853, Minnesota: 507-538-3270) or request an appointment online: http://www.mayoclinic.org/appointments.

@smillr1097

My mother died from breast cancer at 58. She was a tester for Tamoxifen. My sister had breast cancer and then colon cancer. My cousins have had breast cancer..mu mothers side. I have had cervical/uterine cancer and breast cancer. My daughter who is 44 has had non cancerous lumps in her breasts and my granddaughter is 19. A) Do I qualify for your research? B) Should my daughter have bilateral mastectomy as prevention? C) How can ee protect my granddaughter from this seemingly familial insidious disease?

Jump to this post

Unfortunately, we cannot provide medical advice online through our blog. Dr. Samadder recommends that you start a conversation about this with your medical provider or seek consultation in a genetic clinic. If you would like to seek help from Mayo Clinic, please call one of our appointment offices (Arizona: 800-446-2279, Florida: 904-953-0853, Minnesota: 507-538-3270) or request an appointment online: http://www.mayoclinic.org/appointments.

@smillr1097

Also, I had genetic testing for BRACA1. I am negative but thete is a twist in my genes. Insurance would mot cover further testing

Jump to this post

See above reply.

I so completely applaud the effort to expand DNA testing! In 2015, I was treated in Rochester for endometrial cancer and a Lynch syndrome diagnosis was confirmed. We knew that Lynch syndrome was in our family, but I neglected to get tested before getting cancer. While I realize the expense and reluctance of some insurance companies to cover genetic testing are deterrents, getting tested, knowing what you're facing and dealing with and having the ability to be a Previvor rather than a Survivor are priceless gifts that will save money, sorrow and pain in the future for you and your family. If you have any concerns about your family history, contact a genetic counselor at Mayo Clinic. These professionals can guide you through the process and help you determine future courses of action.

@caschwede

Does this study include pancreatic cancer or carcinoid tumors? Father and mother had these respectively???

Jump to this post

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