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7 news updates to mark National Lynch Syndrome Awareness Day
March 22 is National Lynch Syndrome Awareness Day, which aims to draw attention to hereditary colorectal cancer syndromes.
Lynch syndrome is the most common inherited CRC syndrome, contributing to 3% to 5% of all cases of CRC and to 10% to 15% of all young-onset CRCs, according to Carol A. Burke, MD, FACG, president of the ACG and a gastroenterologist specializing in hereditary colorectal cancer syndromes at the Cleveland Clinic. As many as 1 million Americans may have Lynch syndrome, and up to 500,000 carriers may not be aware of their significantly increased risk for CRC, as well as endometrial, ovarian, gastric, small bowel and urothelial tract cancers, she said in a press release.
Carol A. Burke
“Physicians should be reminded on this day to redouble our efforts to create opportunities in our practice to make a proactive diagnosis of Lynch syndrome by utilizing simple and directed family cancer history taking, ensuring that all colorectal cancers in our patients are tested for evidence of microsatellite instability, a hallmark of Lynch syndrome, seeing that appropriate patients and families are offered genetic testing, and providing them with the education and management schema to prevent death from Lynch syndrome-related cancers,” she added. “Prevention of the occurrence and death from some of these cancers due to Lynch syndrome is possible with recognition of the syndrome and preventive strategies, such as colonoscopy and prophylactic surgery.”
To mark National Lynch Syndrome Awareness Day, the editors of Healio Gastroenterology have compiled seven news articles from the past year highlighting research developments and the importance of screening in this hereditary syndrome.
Cancer susceptibility mutations common in CRC
Nearly one in 10 patients with CRC harbored mutations in genes that may increase susceptibility to cancer, according to a study published in Journal of Clinical Oncology.
The research suggests the need for an expanded role of genetic testing in the treatment of the disease and in disease prevention for at-risk family members, according to the researchers.
“It’s time for colorectal patients to have the same awareness about genetic testing that exists for other cancers, such as breast and ovarian cancer,” Sapna Syngal, MD, MPH, chief of gastrointestinal cancer genetics and prevention at Brigham and Women’s Hospital, said in a press release. “More than a million people in this country have Lynch syndrome, but the vast majority of them are unaware that they carry it.” Read more
Multi-gene panel testing ‘could save lives’ of young individuals at risk for CRC
One in every six patients with CRC aged younger than 50 years tests positive for at least one inherited genetic mutation that increases cancer risk, according to a statewide Ohio study published in JAMA Oncology.
“The prevalence of hereditary cancer syndromes among early-onset colorectal cancer, including Lynch syndrome, was quite high, which presents a tremendous opportunity for us to save lives through early detection based on genomic risk factors,” Heather Hampel, MS, LGC, licensed genetic counselor and professor in the clinical division of human genetics at The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute, said in a press release. Read more
Most patients at risk for Lynch syndrome not advised to undergo genetic testing, appropriate colonoscopy screening
Individuals at risk for Lynch syndrome were not often advised to undergo genetic testing and may not have received colonoscopies at intervals recommended by guidelines, according to the results of a study published last year in the American Journal of Gastroenterology. Read more
Hereditary cancer foundation launches Lynch Syndrome patient registry
Last year, AliveAndKickn announced the launch of the HEROIC Registry, a genetic database for people with Lynch Syndrome to share data and further research.
“If other Lynch patients are like me they will want their data shared with researchers to get a better understanding of how to manage their condition and get involved with research studies and clinical trials,” David Dubin, founder of AliveAndKickn and three-time Lynch cancer survivor, said in a press release. “This registry will enable me as a patient to truly make a difference in the research of this condition.” Read more
Genetic Testing in Colorectal Cancer : A Roadmap for Treatment
For the cover story in the June 2016 issue of Healio Gastroenterology, we interviewed Douglas G. Adler, MD, a professor of medicine at University of Utah School of Medicine, Salt Lake City, and colleagues about the importance of genetic testing for inherited CRC syndromes like Lynch Syndrome.
Adler said genetic testing can help identify other family members at risk for GI or other cancers, as well as “give peace of mind if testing is negative.” But if testing is positive, “patients can work with doctors and genetic counselors to understand the implications and plan accordingly.” Read more
Experts address ed many facets of screening for CRC at DDW 2016
Experts at a CRC symposium at Digestive Disease Week 2016 discussed barriers to screening, when to start and stop screening, and novel approaches and technologies.
Arnold J. Markowitz, MD, of Memorial Sloan-Kettering Cancer Center, noted that 70% to 75% of cases of CRC occur in people of average risk, around 20% are associated with familial risk, 3% to 5% occur in individuals with Lynch Syndrome and 1% occur among people with invasive bowel disease. Read more
Limited resection in CRC puts young patients at risk for recurrence
Due to a lack of accessible testing results, many patients at risk of Lynch syndrome do not undergo total or subtotal colectomy at first surgical encounter, putting them at risk for a recurrence of CRC, according to a poster presented at ACG 2015.
“Young patients can be at risk for a number of conditions that would put them at risk for a second colon cancer. Lynch syndrome, familial adenomatous polyposis and inflammatory bowel disease could all put you at risk for a second cancer,” Jordan J. Karlitz, MD, assistant professor of medicine, Tulane University School of Medicine, New Orleans, told Healio Gastroenterology. Read more