In a New York column titled My Medical Choice published last year, Angelina Jolie announced she carried the BRCA gene mutation and had a double mastectomy to minimize her risk of developing breast cancer.
And for women with Lynch syndrome, another genetic condition, their medical choices can sometimes be just as complicated.
Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited condition that increases the risk of colon cancer and other cancers such as ovarian and endometrial cancer.
“Lynch syndrome isn’t rare,” says Anil Rustgi, MD, chief of the division of gastroenterology at Penn Medicine. “It’s estimated this inherited condition accounts for about four percent of colon cancers every year.”
Dr. Rustgi says that Penn’s nationally renowned Gastrointestinal Cancer Risk Evaluation Program evaluates and treats patients with Lynch syndrome, and helps coordinate care with other disciplines such as gynecologic oncology.
“Women who are diagnosed with colon, endometrial or ovarian cancer and who have a family history of the disease may be evaluated via genetic testing and counseling,” says Dr. Rustgi. “The general recommendation for average-risk colorectal cancer screening is a colonoscopy after age 50,” says Dr. Rustgi, “but, because of their higher risk, women and men with Lynch syndrome receive more and different types of screenings starting in their 20s.”
He adds that women with Lynch syndrome who have stopped having children may also prophylactically have their ovaries or uterus removed to prevent ovarian or endometrial cancer. Until then, women should have annual endometrial biopsies and annual transvaginal ultrasounds to evaluate the ovaries, starting between ages 25 to 35 or when the diagnosis is made.
“Genetic testing is powerful in that it gives men and women a chance to take hold of their health by taking measures to minimize their risk,” says Dr. Rustgi. “These are not easy medical choices to make, but with proper genetic evaluation and counseling, they can be informed decisions.”
Evaluating Your Risk for Colorectal Cancer
The Gastrointestinal Cancer Risk Evaluation Program at Penn Medicine offers information, evaluation, and follow-up for people who are at increased risk to develop gastrointestinal cancer due to a personal or family history of colon polyps, colon cancer, or other gastrointestinal cancers (pancreatic, stomach, esophageal, liver). It is also important to note that a personal or family history of genitourinary cancers such as ovarian, bladder, kidney, and uterine cancer may contribute to an individual’s risk for colorectal cancer.
The program offers nationally recognized experts, led by Dr. Timothy Hoops and Dr. Rustgi, in the diagnosis and treatment of colon and other gastrointestinal cancers. Penn’s genetic counselors also have extensive experience in family history assessment, education and counseling for people with a family history of gastrointestinal cancer. The team also includes physicians and health care specialists from all needed specialties, including gastrointestinal medicine, hematology-oncology, medical genetics, radiation oncology, surgery, radiology and pathology.