Dr. Stacy Norton, affected by Lynch syndrome, seeks solutions after losing her mother to colon cancer. Her experience has led her to participate in clinical trials of a vaccine that could change the approach towards this disease.

At just 7 years old, Norton lost her mother, being one of several families affected by aggressive tumors at unusually young ages, the Associated Press (AP) reported.

Lynch syndrome is an inherited mutation that significantly increases the risk of colorectal cancer and other types of cancer. An estimated one in every 279 individuals in the US carries it, often without knowing it. Carriers of the syndrome face a much higher risk of developing cancer at a young age and must undergo annual colonoscopies for the detection and prevention of early growths.

Vaccines in development

Scientists are working on vaccines that teach the immune system to detect and fight early cancer growths associated with Lynch syndrome. At least three vaccines are in development, with two in clinical trials in the US, and another in Britain.

The vaccine that Norton helped test seems promising enough that its principal investigator, Dr. Eduardo Vilar-Sánchez of MD Anderson Cancer Center, expects a larger study to begin early next year.

Colorectal cancer is the most common consequence, as well as endometrial or uterine cancer. Stacy knew that some of her mother's relatives had also suffered from colon cancer, but it was not until she was in her forties that a genetic test confirmed that she had Lynch syndrome, the AP reported.

In this context, initial results from a clinical trial have shown a reduction in early growths in participants, including Dr. Norton, who has experienced polyp-free colonoscopies after vaccination.

Future of diagnosis and prevention

The incidence of colorectal cancer in young adults is increasing, raising questions about the relationship with Lynch syndrome and the importance of early detection.

Current guidelines suggest starting colorectal cancer screening starting at age 45, although seeking medical care for persistent symptoms is advised at any age.

Signs of Lynch syndrome

Lynch syndrome, by itself, does not produce its own initial symptoms; What alarms carriers are the first signs of associated cancers (especially colorectal, endometrial and other tracts), which usually appear at younger ages than in the general population.

What should alert a carrier

The symptoms that should motivate an urgent and early consultation in a person with Lynch syndrome are:

Digestive symptoms (colorectal cancer, stomach, small intestine)

Gynecological symptoms (endometrial/ovarian cancer)

Urinary symptoms (urinary tract cancer)

Neurological symptoms (brain cancer, less common)

Skin and others

Why it is key to act quickly

In carriers, Lynch-related cancers tend to appear younger (for example, colorectal cancer may have a median age around 44 years in some mutations) and may develop more aggressively. Since the syndrome itself does not show signs until there is a tumor, early detection depends on recognizing these symptoms and following surveillance programs (colonoscopy, gynecological evaluations, etc.).

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