Survival in Lynch Syndrome Similar to General Population

TOPLINE:

Patients with Lynch syndrome do not have an increased all-cause mortality rate, despite patient beliefs to the contrary; however, those who skip recommended colonoscopy screening protocols have higher mortality rates than family members without the condition.

METHODOLOGY:

• Researchers evaluated objective and subjective mortality rates in patients with Lynch syndrome, a genetic condition caused by a pathogenic variant (PV) in one of the DNA mismatch repair genes, leading to an increased risk for cancer.
• A total of 1030 PV-positive and 569 PV-negative individuals from the Netherlands Foundation for the Detection of Hereditary Tumors registry were included in the study; each participant was matched to control individuals not affected by Lynch syndrome from the general Dutch population.
• A survey was also conducted to assess subjective mortality beliefs in PV-positive individuals; the 47 valid responses received were compared with survey data obtained from a representative panel of the Dutch population.

TAKEAWAY:

• Mortality rates in PV-positive individuals were comparable with those in the general population (hazard ratio [HR], 1.08; 95% CI, 0.86-1.35), but higher than those for their PV-negative family members (HR, 1.51; 95% CI, 1.08-2.11).
• PV-negative family members had lower mortality rates than the general population (HR, 0.71; 95% CI, 0.56-0.92), possibly due to greater health consciousness in those with a family history of cancer.
• However, PV-positive individuals who adhered to colonoscopy screening protocol (at least once every 2 years) did not face increased mortality rates (HR, 1.13; 95% CI, 0.74-1.72) compared with PV-negative family members.
• PV-positive individuals tended to have a more pessimistic view of their survival, anticipating a lifespan approximately 2.4 years shorter than that of the representative panel.

IN PRACTICE:

“[The study] finding that survival in Lynch patients is comparable to survival in the general population can provide important information for genetic counsellors and gastroenterologists and can reduce (unnecessary) fear and worry among patients,” the authors wrote.

SOURCE:

The study was led by Daniel Karpati, PhD, Department of Business Economics, Erasmus School of Economics, Erasmus University Rotterdam, Rotterdam, the Netherlands, and was published online in Gastroenterology.

LIMITATIONS:

The small sample size and low response rate may have affected the validity of the subjective survival beliefs shown in this study.

DISCLOSURES:

The authors declared no conflicts of interest. This study did not report any source of funding.

This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication.