Illness perceptions, risk perception and worry in SDH mutation carriers

Context: Paraganglioma (PGL) patients and succinate dehydrogenase (SDH) gene mutation carriers at risk for PGLs have a decreased quality of life (QoL). QoL may be affected by the strategy an individual uses when dealing with a stressful situation, ie, specific coping styles. Understanding the various approaches to coping may allow the development of targeted interventions to improve patient QoL. Objective: The objective of the study was to assess coping styles in PGL patients and SDH mutation carriers. Design: This was a cross-sectional study. Setting: The study was conducted at a tertiary referral center. Patients and Methods: Coping styles were assessed using the Utrecht Coping List. The results from the study cohort were compared with a control group and data derived from the literature. Potential differences in coping styles between the various SDH mutation carriers and PGL patients without an SDH mutation were explored. Results: Of the 174 patients who responded, 122 were SDHD, 25 SDHB, and 2 SDHC mutation carriers. An additional 25 patients lacked an SDH mutation. They recruited 100 peers as controls. Compared with the general population, the study cohort was more avoidant of problems (P < .001) and reported less expression of emotion (P < .01). Compared with patients with other conditions, they sought more social support (P < .001). There were no significant differences in coping styles between the various categories of mutation carriers or PGL patients lacking a mutation. Conclusions: Coping styles of PGL patients and SDH mutation carriers differ from those of control and reference groups and include an avoidant coping style and a lack of emotional expression.

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Effects of gene penetrance on adherence to breast cancer screening recommendations (BCSR) among high-risk women.

Journal of Clinical Oncology ◽

10.1200/jco.2017.35.15_suppl.1515 ◽

2017 ◽

Vol 35 (15_suppl) ◽

pp. 1515-1515 ◽

Cited By ~ 1

Author(s):

Jacqueline Talea Desjardin ◽

Mallika Sachdev Dhawan ◽

Amie Blanco ◽

Pamela N. Munster

Keyword(s):

Genetic Testing ◽

Cancer Screening ◽

Risk Perception ◽

High Risk ◽

Perceived Risk ◽

Moderate Risk ◽

High Risk Women ◽

Mutation Carriers ◽

Chi Squared ◽

Post Test

1515 Background: Adherence to cancer screening depends on the interplay between risk perception and convenience. For instance, high perceived risk is likely what motivates high-risk mutation carriers (HRMC) to adhere well to rather inconvenient BCSR. While the NCCN offers BCSR for moderate-risk genes, adherence in moderate-risk mutation carriers (MRMC) and non-carriers with negative multigene panels (NC) is unknown. Methods: Screening behavior was examined in 120 women (15 HRMC, 20 MRMC, 85 NC) 20-65 years old (y) without cancer who received genetic testing and counseling. The groups did not differ in age or family history (fhx). Medical records were reviewed pre- and post-testing to determine adherence. Average follow up was 15 months. Data were analyzed by Chi-squared test. Results: Prior to genetic testing, 93% of women were adherent to general population BCSR, and 58% were already screening in accordance with post-test counseled BCSR. Testing altered adherence to counseled BCSR for HRMC (p<0.01), but not for MRMC (p=0.21) or NC (p=0.86). HRMC had better post-test adherence than MRMC (p<0.05). Conclusions: MRMC are often told to follow similar BCSR to HRMC, namely annual mammogram and MRI, but MRMC may be less motivated to adhere to these BCSR due to lower risk perception. We found adherence was high in HRMC, likely due to high risk perception; intermediate in NC, likely due to manageable BCSR; and comparably low in MRMC, possibly because their risk perception was insufficient to motivate biannual imaging studies. Understanding how genetic testing influences adherence is essential to ensuring proper surveillance in high-risk women. [Table: see text]

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