Genetics and GI Cancers: Testing and Screening Ensure Optimal Patient Care

Patients with a first-degree relative with colorectal cancer or polyps have a higher risk of developing the disease themselves, underscoring why it’s vital for primary care physicians to know their patients’ family history of colorectal cancer.

“Most physicians know the guidelines recommending that everyone age 50 and older have a colonoscopy screening for colorectal cancer and, if results are normal, every 10 years thereafter,” says Steven R. Peikin, MD, Head of Cooper’s Division of Gastroenterology. “But if a patient has a first-degree relative who’s been diagnosed with colorectal cancer or advanced polyps, screening should begin at age 40, or ten years younger than the age the affected relative was diagnosed, whichever is earlier.

“The earlier a relative has colorectal cancer, or if family members from two successive generations are diagnosed, the more likely it is to be a genetic issue,” he continues. “In these cases, testing for the hereditary nonpolyposis colorectal cancer (HNPCC) gene mutation is indicated. It is autosomal dominant, so half of the offspring are likely to inherit the gene and the majority will develop cancer at some time in their lives – and usually do so at an earlier age than those with non-inherited colorectal cancer. In these genetic cases, it’s recommended that screening begin at age 25 and repeat every two years thereafter.”

Patients with the HNPCC gene mutation are also at greater risk of ovarian, endometrial, urinary tract, biliary tract, small intestine and gastric cancer than the general population, Dr. Peikin notes.

“Cooper University Hospital has a comprehensive genetic testing and counseling program that works closely with the Division of Gastroenterology and Cooper Cancer Institute’s Gastrointestinal Cancer Center,” says Alexandre Hageboutros, MD, Assistant Head of the Division of Hematology/Medical Oncology and Head of the Gastrointestinal Cancer Center. “In fact, when patients are referred to Cooper for genetic testing and counseling related to GI cancers, they are seen by a GI oncologist as well – something no other hospital in the region offers.”

“Patients get the benefit of two expert evaluations in one visit,” says Certified Cancer Genetics Counselor Dana Clark, MS. “And we circle back to the referring physician with a game plan.”

The majority of Americans are not getting screened for colorectal cancer, which is why it remains – needlessly so – the second most common cause of cancer death among men and women, Dr. Peikin points out. “With appropriate screening, this is a largely preventable cancer,” he says.

“And family history is the best, easiest and least expensive first-line screening tool we have,” Clark adds.

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