Annual colonoscopies for people with Lynch syndrome (HNPCC or hereditary nonpolyposis colon cancer) successfully find cancers at an early stage.

A recent study by the German HNPCC Consortium confirmed the effectiveness of annual colonoscopies to find colorectal cancers at a curable stage.  Regular colonoscopies found early cancers more often than did patient symptoms.

Current recommendations are for surveillance colonoscopies to begin by age 25, be repeated every 1 to 2 years until age 40, and then annually.

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Methotrexate, a chemotherapy drug used as long ago as the 1940′s, may be effective against colorectal cancers caused by mutations in a gene that is part of Lynch syndrome.

The drug targeted and destroyed cells that contained mutated MSH2 genes. Inherited mutations in MSH2 prevent mistakes in correct copying of DNA during cell division allowing cancer to develop and grow, particularly inherited colorectal and endometrial cancers.  In addition, MSH2 mutations can occur in some colorectal cancers that are not inherited.

Based on the work done in cancer cells, a Phase II clinical trial has begun recruiting patients with advanced colorectal cancer at the Royal Marsden Cancer Hospital in the United Kingdom.  To be part of the trial, patients need to have changes in MSH2 genes either in their tumor tissue or in their blood. Read the rest of this entry »

A new study estimates the lifetime risks for colorectal and endometrial cancer in people with a genetic mutation for Lynch syndrome. The analysis was controlled to avoid bias and overestimating risk.

Even after adjusting for possible bias, lifetime risks for both cancers was high and the need for special surveillance was critical. Read the rest of this entry »

Selena Martinez ran the Santa Cruz Half Marathon on April 19th to raise awareness of Lynch syndrome, or hereditary non-polyposis colon cancer (HNPCC), a genetic condition that greatly increases risk for colorectal and other cancers.

The Santa Cruz was the third of eight half marathons, Martinez plans to run to honor of eight members of her family diagnosed with Lynch syndrome cancers.  Sunday’s race was for her sister Noemi Garza who survived colon and endometrial cancer.

Martinez’ website Detect the Mutation provides information about recognizing and testing for Lynch syndrome. She is also raising funds for the University of California at San Francisco’s Gastrointestinal Cancer Prevention Program, which offers screenings to those in need. Read the rest of this entry »

In inherited medical conditions, anticipation refers to situations where children develop inherited diseases earlier than their parents.  Anticipation appears to be at work in Lynch syndrome with children being diagnosed with cancer an average of 10 years earlier than their affected parent. Read the rest of this entry »