Over the past two decades, the Dana-Farber/Brigham and Women’s Cancer Center (DF/BWCC) has become a national leader in the care of patients with hereditary gastrointestinal cancers, from Lynch syndrome to polyposis syndromes.
To understand their risk of hereditary gastrointestinal cancer, patients of the DF/BWCC’s Gastrointestinal Cancer Genetics and Prevention Program meet with genetic counselors and physicians who specialize in hereditary colorectal cancers. After genetic testing to identify gene changes that may increase a person’s risks, patients are provided with a customized care plan aimed at reducing their chances of developing gastrointestinal cancer.
For example, patients with Lynch syndrome receive therapeutic endoscopy and surgical interventions at Brigham and Women’s Division of Gastroenterology, Hepatology, and Endoscopy. These patients receive annual colonoscopies, beginning at age 25.
“We’re the largest program in the United States that offers services to patients with Lynch syndrome. We follow hundreds of these patients, providing genetic evaluations, designing care plans, and supporting them over the years, even decades,” said Sapna Syngal, MD, MPH, Director of Gastrointestinal Cancer Genetics and Prevention at the DF/BWCC.
Lynch Syndrome patients who develop polyps or colorectal cancer receive coordinated care from the Brigham’s Advanced Endoscopy Clinical Team led by Linda Lee, MD. The world-renowned endoscopy staff removes polyps, provides screenings with endoscopic ultrasound, and performs endoscopic mucosal resections.
In 2015, Dr. Syngal and her colleagues developed an online assessment tool that can help rapidly identify people who should undergo genetic testing for Lynch syndrome. The online model, reported in the Journal of Clinical Oncology, is called PREMM 5. It enables people to quickly assess their likelihood of carrying one of the genes associated with Lynch syndrome.
In addition to Lynch syndrome, the DF/BWCC also assesses patients’ risk for other hereditary gastrointestinal syndromes, including familial adenomatous polyposis (FAP), juvenile polyposis syndrome (JPS), Gardner syndrome, Peutz-Jeghers syndrome, MYH-associated polyposis (MAP) and hereditary pancreatic cancer.
Patients with polyposis syndromes are followed for many years in an effort to delay or prevent surgery through careful endoscopic care. The resection of upper tract polyps, such as duodenal polyps and ampullary adenomas, is routinely performed. Members of the endoscopy team also perform a high volume of total colectomies and extend the small intestine with a “J-pouch.”
For patients with Peutz-Jeghers who require removal of ampullary polyps via ampullary resection, Ramona Lim, MD, of Brigham and Women’s Division of Gastroenterology, Hepatology and Endoscopy, is a world-leading expert in the use of capsule endoscopy and balloon enteroscopy to remove large polyps.
“The field of hereditary colorectal cancers is constantly expanding. We discover new genes all the time that offer new clinical care implications. Practicing physicians must be aware of which patients need genetic testing and that we’re here if they need a place to help with their care,” said Dr. Syngal.