ArticleMolecular genetics & genomic medicine2025
Psychological Distress and Quality of Life in Families With a Germline CDKN2A Pathogenic Variant.
Article in Molecular genetics & genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Factors affecting compliance with pancreas surveillance in patients with familial/genetic risk.Familial cancer · 2026Article
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10 authors.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundIndividuals 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.
methodsThis 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.
resultsIn total, 59/247 (24%) individuals under skin surveillance only (skin surveillance group) and 188/290 (65%) individuals under both skin and pancreatic cancer surveillance (pancreatic surveillance group) responded. In both surveillance groups, health-related QoL and general distress levels were within the general population norms. However, more than 40% of all study participants reported melanoma-related distress. Pancreatic cancer-related distress was experienced by 45% of the pancreatic surveillance group. Determinants of cancer-related distress were a first-degree relative with melanoma or pancreatic cancer, increased cancer risk perception, and poor general health perception. Over 80% of the participants felt that the benefits of cancer surveillance outweigh the disadvantages.
conclusionIn conclusion, confirmed and at-risk carriers of the CDKN2A PV under cancer surveillance experienced similar levels of QoL and general distress compared to the general population. However, cancer-related worry was substantial in this population. These findings can help identify individuals who may benefit from psychological support.
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