Psychological Distress and Quality of Life in Families With a Germline CDKN2A Pathogenic Variant.

ABSTRACT:

Background

Individuals with a germline CDKN2A pathogenic variant (PV) have an increased lifetime risk of melanoma and pancreatic cancer. It is unknown whether the CDKN2A PV impacts quality of life (QoL). Therefore we aimed to assess QoL and psychological distress in families affected by the PV.

Methods

This cross-sectional study included confirmed carriers and those with a 50% likelihood of carrying the PV (at-risk carriers) under cancer surveillance who were invited to complete a one-time questionnaire. Both confirmed and at-risk carriers are offered skin surveillance, whereas only confirmed carriers aged 40 years or older can participate in pancreatic surveillance.

Results

In total, 59/247 (24%) individuals under skin surveillance only (skin surveillance group) and

SUBMITTER: Onnekink AM 

PROVIDER: S-EPMC11815477 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature