Diet and physical activity behaviors: how are they related to illness perceptions, coping, and health-related quality of life in young people with hereditary cancer syndromes?

Individuals with inherited cancer syndromes, such as Li-Fraumeni syndrome (LFS), may be motivated to adopt health-protective behaviors, such as eating more fruits and vegetables and increasing physical activity. Examining these health behaviors among young people with high lifetime genetic cancer risk may provide important insights to guide future behavioral interventions that aim to improve health-related quality of life (HRQOL). We used a self-regulatory framework to investigate relationships among diet and physical activity behaviors and psychosocial constructs (e.g., illness perceptions, coping, HRQOL) in adolescents and young adults (AYAs; aged 15-39 years) with LFS. This longitudinal mixed-methods study included 57 AYAs aged 16-39 years at enrollment), 32 (56%) of whom had a history of one or more cancers. Participants completed one or two telephone interviews and/or an online survey. We thematically analyzed interview data and conducted regression analyses to evaluate relationships among variables. AYAs described adopting healthy diet and physical activity behaviors to assert some control over health and to protect HRQOL. More frequent use of active coping strategies was associated with greater reported daily fruit and vegetable intake. Greater reported physical activity was associated with better quality of psychological health. Healthy diet and physical activity behaviors may function as LFS coping strategies that confer mental health benefits. Clinicians might emphasize these potential benefits and support AYAs in adopting health behaviors that protect multiple domains of health. Future research could use these findings to develop behavioral interventions tailored to AYAs with high genetic cancer risk.

How do young people with a hereditary cancer predisposition syndrome understand and experience cancer survivorship? "With Li-Fraumeni syndrome, it's just an intermission".

OBJECTIVES: Adolescents and young adult (AYA) cancer survivors face unique medical and psychosocial sequalae, including chronic health conditions, late effects of treatment and fear of recurrence. The meaning of cancer survivorship may be further complicated for AYAs with hereditary cancer predisposition syndromes. This study used a patient-centered framework to investigate how AYAs with Li-Fraumeni syndrome (LFS) consider cancer survivorship. METHODS: An interprofessional team conducted 30 semi-structured interviews with AYAs (aged 18-41, mean 31 years) enrolled in the National Cancer Institute's LFS Study (NCT01443468). Twenty had experienced at least one cancer diagnosis. Interview data were thematically analyzed by an inter-professional team using interpretive description and grounded theory methods. FINDINGS: Participants viewed "survivorship" as a period marked by no evidence of formerly diagnosed disease. By contrast, participants felt the label "survivor" was tenuous since LFS is characterized by multiple primary malignancies and uncertainty about intervals between one diagnosis and the next. Many AYAs viewed survivorship as requiring a high degree of suffering. Though many personally rejected "survivor" identities, almost all articulated its various functions including positive, negative, and more complicated connotations. Instead, they chose language to represent a range of beliefs about survival, longevity, prognosis, and activism. CONCLUSIONS: AYAs with LFS struggle with the term "survivor" due to their multi-organ cancer risk, short intervals between malignancies, and evolving identities. Loved ones' cancer-related suffering informed perspectives on survivorship. Survivorship care for AYAs with cancer risk syndromes requires interprofessional interventions that address their unique biomedical and psychosocial needs.

Family communication challenges of adolescents and young adults with Li-Fraumeni syndrome: Implications for psychosocial care.

OBJECTIVES: This qualitative-descriptive study explored adolescent and young adult (AYA) perspectives, experiences, and challenges with openness and closedness in family communication about Li-Fraumeni syndrome (LFS). METHODS: We conducted interviews with AYAs (aged 15-39 years) with LFS enrolled in the National Cancer Institute's LFS study (NCT01443468). An interprofessional clinician-researcher team analyzed transcribed data using the constant comparative method and interpretive description. RESULTS: AYAs (N = 38; 26 females, 12 males, mean age=29 years) reported navigating openness and closedness about LFS in their families, which varied by LFS topic, relationship, disease trajectory, and developmental phase. AYAs described communication challenges, including broaching difficult topics (e.g., reproductive decision-making, end-of-life), balancing information-sharing with emotionally protecting family and self, and struggling with interactions that cause relational tensions. CONCLUSIONS: AYAs reported experiencing LFS family communication challenges that disrupted their psychosocial well-being. LFS-related stressors and life transitions complicated and were complicated by these challenging family interactions. PRACTICE IMPLICATIONS: Clinicians may support AYAs with LFS by inquiring about family communication, responding empathically to communication concerns, providing resources to support difficult conversations, and engaging mental health providers as needed. Researchers could partner with AYAs to develop tailored communication skills training and social support tools.

"I Didn't Want My Baby to Pass, But I Didn't Want Him Suffering Either": Comparing Bereaved Parents' Narratives With Nursing End-of-Life Assessments in the Pediatric Intensive Care Unit.

Little is known about how nursing care at the end of a child's life impacts long-term parental bereavement. We aimed to explain, contextualize, and examine comparisons between quantitative trends in children's end-of-life care and parents' qualitative perceptions. We used a mixed methods design, combining quantitative data from the RESTORE clinical trial with qualitative interviews with bereaved parents. Patients who died during RESTORE were included in quantitative analyses. A subset of their parents was interviewed 7 to 11 years later. The quantitative analyses included 104 children. Eight parents were interviewed; 4 had a child die after cancer, and 4 had a child die after a complex chronic illness. Quantitatively, patients' pain and sedation scores were generally comfortable. Children died with multiple invasive devices in place. Parents' descriptions of their child's comfort and critical care requirements differed by illness trajectory (cancer, complex chronic illness). Parents' memories of their child's suffering aligned with peaks in clinical scores, rather than averages. Invasive devices and equipment altered parents' ability to make meaningful final memories with the dying child. Pediatric intensive care clinicians may need to broaden how they attend to dying children's pain and corresponding parental distress, as parents' memories of their dying child's suffering persist for years.

Edible marijuana products and potential risks for pediatric populations.

PURPOSE OF REVIEW: In recent years, an increasing number of states have legalized marijuana, also known as cannabis, for recreational use. As marijuana becomes more accessible, adolescent use and accidental pediatric exposures are likely to become broad public health concerns. Edible marijuana products, which are consumable foods or beverages that contain cannabis extract, are particularly enticing to youth, as they come in appealing forms such as candies, cookies, and drinks. The purpose of this review is to provide pediatricians with an overview of the different types and potential dangers associated with edible marijuana products. RECENT FINDINGS: Edible marijuana products are often indistinguishable in appearance from normal food items and lack the smell and visible smoke associated with inhaled marijuana. Because they are inconspicuous, palatable, and easily accessible, they are increasingly popular among adolescents. Additionally, the packaging of edible baked goods, candies, and drinks is often purposefully very similar to that of mainstream foods, increasing the risk of accidental ingestion by children. An edible marijuana product must be digested before Δ9-tetrahydrocannabinol can enter the bloodstream, so there is a delayed onset of effects when consuming edibles compared with inhaling marijuana. This also predisposes users to accidental overconsumption. SUMMARY: Greater knowledge of edible marijuana product consumption by pediatric populations will allow pediatricians to more effectively help patients and advise caregivers in cases of overconsumption, dependence, or accidental ingestion. It is important for parents, guardians, and educators to be able to successfully identify edible marijuana products and recognize signs of cannabis use.

Nursing Care at End of Life in Pediatric Intensive Care Unit Patients Requiring Mechanical Ventilation.

BACKGROUND: Parents' perceptions of critical care during the final days of their child's life shape their grief for decades. Little is known about nursing care needs of children actively dying in the pediatric intensive care unit (PICU). OBJECTIVES: To examine associations between patient characteristics, circumstances of death, and nursing care requirements for children who died in the PICU. METHODS: A secondary analysis of the data set from the Randomized Evaluation of Sedation Titration for Respiratory Failure trial was conducted. RESULTS: This analysis included 104 children; 67 died after withdrawal of life-sustaining treatments; 21, after failed resuscitation; and 16, after brain death. Patients had a median age of 7.5 years, were cognitively appropriate, and were intubated for acute respiratory failure. Daily pain and sedation scores indicated patients' comfort was well managed (mean pain scores: modal, 0; peak, 2; mean sedation scores: modal, -2; peak, -1). Patients with longer PICU stays more often experienced pain and agitation on the day of death. Illness trajectory (acute, complex chronic condition, or cancer) was associated with pain scores (P = .04). Specifically, children with cancer had higher pain scores than children with acute illness trajectories (P = .01). Many patients (62%) had no change in critical care devices in their last days of life (median, 5 devices). Patterns of pain, sedation, comfort medications, and nursing care requirements did not differ by circumstances of death. CONCLUSION: Children with cancer and longer PICU stays may need comprehensive comfort management. Invasive devices left in place during withdrawal of life support may have inhibited parents' ability to connect with their child. Future research should incorporate parents' perspectives.

Embodied risk for families with Li-Fraumeni syndrome: Like electricity through my body.

INTRODUCTION: Experiences of illness change the physical body and embodiments, or the ways in which the world and the self are known through the body. When illness is anticipated, such as with inherited cancer predisposition syndromes, risk becomes embodied and shared in family groups. Embodied risk is experienced whether or not symptoms have manifested. To examine how individuals and families with genetic risk experience the world and understand their disease through their bodies, we employ Li-Fraumeni syndrome (LFS) as an exemplar. LFS is a rare, genetic, cancer predisposition syndrome with nearly 100% lifetime cancer risk starting from birth, limited opportunities for prevention, rigorous screening protocols, and early mortality. METHODS: Forty-five families, including 117 individuals aged 13-81 years, enrolled in the National Cancer Insitute's LFS study (NCT01443468) completed 66 open-ended interviews regarding LFS experiences. An interdisciplinary team used modified grounded theory to explore physical aspects of living with LFS in psychosocial contexts. FINDINGS: The physicality of living with LFS included constant monitoring of LFS bodies across the family to identify physical change that might indicate carcinogenesis. Cancer screening, risk reduction, and treatment acted as dually protective and invasive, and as an unavoidable features of LFS. Connections between family members with similar embodiments normalized aesthetic changes and supported coping with visible markers of difference. In some circumstances, participants objectified the body to preserve the self and important relationships. In others, intense pain or loss created thresholds beyond which the self could no longer be separated from the body to support coping. DISCUSSION: This paper focuses on Li-Fraumeni syndrome, a familial condition with a well-established genetic identity in which the body-self is experienced in relation to important others, to medical imaging, and to historical experiences with cancer. We expand on theories of embodied risk and inter-embodiment to describe experiences across disease trajectories, with attention to division and union between body, self, and other.

Shifting and intersecting needs: Parents' experiences during and following the withdrawal of life sustaining treatments in the paediatric intensive care unit.

OBJECTIVES: To examine parents' perceptions of nursing care needs; including specific concerns, preferences and supportive actions for themselves and their dying child during and following the withdrawal of life support in the paediatric intensive care unit. RESEARCH DESIGN: Qualitative description with content analysis. SETTING: Interviews with eight parents of eight children who died in the paediatric intensive care unit 7-11 years prior. MAIN OUTCOME MEASURES: Descriptive categories of parents' perceptions of end-of-life needs. FINDINGS: Parents identified four shifting and intersecting categories of needs: To be together, To make sense of the child's evolving clinical care, To manage institutional, situational, and structural factors, and To navigate an array of emotions in a sterile context. Being closely connected with the child was highly important, but often intersected with other domains, requiring nurses' support. Parents' memories demonstrated persistent uncertainty about their child's end-of-life care that influenced their long-term grief. CONCLUSIONS: Intersections between parent-identified care needs suggest potential mechanisms to strengthen nurses' care for dying children. Equipped with the knowledge that the parent-child bond often shapes parents' priorities; nurses should aim to facilitate connections amidst paediatric intensive care unit processes. Ongoing uncertainty in parents' adaptation to loss suggests that attention to instances when needs intersect can have a lasting impact on parents' grief.

Defining self-disclosure of personal cancer coping experiences in oncology social workers' helping relationships: When cancer "hits home".

PURPOSE: Oncology social workers are increasingly finding themselves diagnosed with or caring for a loved one with cancer. Self-disclosure may be useful for building a therapeutic alliance. Yet, practice-informed guidelines for psychosocial oncology providers do not exist. RESEARCH APPROACH: Twenty-three psychosocial oncology providers diagnosed with and/or providing care to someone with cancer completed semi-structured interviews eliciting attitudes and utilization regarding self-disclosure. METHODOLOGICAL APPROACH: Interviews were digitally recorded and transcribed verbatim. Using grounded theory's constant comparative method, researchers conducted open and theoretical coding. FINDINGS: Participants expressed consensus in defining, and reported a range of evolving practices regarding, self-disclosure. Recommendations for responsible self-disclosure included self-awareness, ongoing assessment, supervision, and enhanced educational programming. INTERPRETATION AND IMPLICATION: Therapeutic tools must evolve as core features of psychosocial oncology care. A flexible and context-specific framework for clinician self-disclosure related to personal experiences with cancer can guide oncology social work practice.

Reproduction and Genetic Responsibility: An Interpretive Description of Reproductive Decision-Making for Young People With Li-Fraumeni Syndrome.

The reproductive decision-making of young people (aged 15-39 years) with Li-Fraumeni syndrome (LFS), an early onset inherited cancer syndrome, has not been studied in depth. Using interpretive description methodology, we conducted semi-structured interviews with 30 young Australians (mean age 25.5 years) diagnosed with LFS or at 50% genetic risk. With reflexive thematic analysis, we show how young people's reproductive decision-making and ideals for family formation were shaped by a sense of genetic responsibility to ensure the health of future biological kin. Reproductive technology provided choices for family formation in the context of LFS and also complicated reproductive decisions, as these choices were difficult to understand, make, or carry out. We uphold that reproductive decision-making when living with LFS is a profoundly moral practice that may pose significant challenges for young people navigating their formative years. We offer genetic counseling practice recommendations to support individuals with LFS when making reproductive decisions.

Family Identity and Roles in the Context of Li-Fraumeni Syndrome: "No One's Like Us Mutants".

Li-Fraumeni syndrome (LFS) is a rare hereditary cancer syndrome in which individuals have a significantly increased risk of developing multiple cancers throughout the life span. An LFS diagnosis may shift the individual's sense of self and tolerance of cancer risk as they engage in cancer screening and cancer prevention activities. This study examined the impact of family identity on health decision making, communication, and role function. Forty-five families completed one or more interviews during an annual, protocol-specific cancer screening study. An interdisciplinary team analyzed 66 interviews using interpretive description and modified grounding theory. Thematically, identity emerged as an evolving construct regarding self and/or family, embedded in historical and ongoing experiences with LFS. Notions of individual and shared family identities guided decision making related to healthcare and influenced interpersonal communication and role function between supportive networks and families. Alignment between individual, family, and generational identities may shape engagement in genetic testing, risk management, and family life. Medical teams that are unequipped to address the psychosocial challenges that LFS populations face may include mental health professionals on interprofessional care teams to navigate risk management and consequential familial conflict.

Benefits and burdens of risk management for young people with inherited cancer: A focus on Li-Fraumeni syndrome.

BACKGROUND AND OBJECTIVES: Discussing population-based cancer risk and screening is common in general practice. Patients with an inherited cancer syndrome, however, may need more nuanced discussions. Li-Fraumeni syndrome (LFS) is a rare, inherited cancer syndrome that affects many organ systems from birth and requires intensive, whole-body cancer risk management. The aim of this study was to explore the risk management experiences of young people (aged 15-39 years) with, or at risk of, LFS. METHOD: Using an interpretive description design, semi-structured interviews were conducted with young people diagnosed with, or at risk of, LFS from across Australia. Interview transcripts were analysed with team-based, codebook thematic analysis. RESULTS: Thirty young people (mean age 25.5 years) participated. Participants described intensive screening and risk-reducing mastectomy (for women) as their 'best shot' to control their cancer risks with LFS. Engaging in these options as a young person came with a slew of psychosocial implications. DISCUSSION: General practitioners may help to improve care for young people with inherited cancer syndromes by acknowledging the benefits and complex burdens of their risk management.

"I need to know if I'm going to die young": Adolescent and young adult experiences of genetic testing for Li-Fraumeni syndrome.

PURPOSE: This study explored the genetic testing experiences of adolescents and young adults (AYAs; aged 15-39 years) with, or at 50% risk of, an early onset cancer predisposition syndrome: Li-Fraumeni syndrome (LFS). DESIGN: We used interpretive description and conducted semi-structured interviews with 30 AYAs (mean age 25.5 years): 26 with LFS and four at 50% risk. Findings were developed using team-based, inductive thematic analysis. FINDINGS: Participants reported genetic testing uptake to reduce uncertainty about their gene status and to access cancer risk management. Learning their gene status, however, introduced a new uncertainty about living with high multi-organ cancer risk. Participants preoccupied with surviving cancer during diagnostic testing underestimated the implications of LFS. Reliance on family at this life stage complicated decision-making for genetic testing, especially among adolescents. CONCLUSION: AYAs undergoing genetic testing for LFS have unique support needs based on their life stage and require developmentally appropriate psychosocial care.

Waiting and "weighted down": the challenge of anticipatory loss for individuals and families with Li-Fraumeni Syndrome.

Li-Fraumeni Syndrome (LFS) is characterized by risk of multiple primary malignancies in diverse sites, pediatric onset, near complete penetrance by age 70 years, limited options for prevention, and substantial uncertainty regarding disease manifestation and prognosis. Forty-five families, including 117 individuals aged 13-81 years, enrolled in the US National Cancer Institute's Li-Fraumeni Syndrome Study completed 66 interviews regarding their LFS experiences. An interdisciplinary team used modified grounded theory to examine family distress regarding expectations of loss and change due to likely cancer diagnoses, and the consequences of this likelihood across physical, social, and emotional domains. Disease-free periods were characterized by fearful anticipation of diagnosis or recurrence, uncertainty regarding post-treatment quality of life, and planning for shifts in family dynamics to enable caregiving. The chronicity of waiting for these changes incited dread and inhibited effective coping with the pragmatic, emotional, and existential challenges of the syndrome. Consequently, families reported high burden on roles and resources and limited guidance to prepare for, or achieve resolution with, grief. Anticipatory loss, the experience of bereavement prior to an expected change, distinguishes hereditary cancer risk from a sporadic diagnosis. Such grief is often incomplete in impact or meaning, subjected to rapid or profound change as conditions worsen, and poorly understood. In this study, losses were compounded by profound uncertainty, a chronic feature of LFS, which compromised mourning. Long-term engagement of mental health providers with bereavement training, in partnership with genetics providers, can provide invaluable educational and psychological support to families as they navigate these implacable challenges.

Health professionals' practice for young people with, or at risk of, Li-Fraumeni syndrome: An Australasian survey.

Li-Fraumeni syndrome (LFS), a rare cancer syndrome caused by pathogenic germline variants in TP53, has serious implications for adolescents and young adults (AYAs; aged 15-39 years). The early-onset and multi-organ cancer risk associated with LFS means health professionals must concurrently contend with the developmental needs of individuals who are diagnosed from a young age, and recent changes in practice due to advances in whole-body cancer surveillance. To help understand how current practice meets the developmental needs of AYAs with, or at risk of, LFS, we conducted a national online survey to explore the experiences of health professionals who care for this population in Australia and New Zealand. Forty-three respondents completed the survey (56% genetic counselors), one-third of whom had facilitated predictive TP53 testing for minors (n = 14/43, 33%). In hypothetical scenarios describing 15-year-olds eligible for predictive TP53 testing, respondents were more supportive of testing for emotionally mature compared to immature minors (p = .009); and more supportive of adolescent wishes compared to parental wishes for testing (p = .020) when families held discordant views on testing. Genetic health professionals were more likely than oncology health professionals to address psychological (p = .017) and information needs about reproductive options for LFS during consultations than to refer them on (p = .004). All respondents supported comprehensive risk management for LFS, but noted important medical, logistical, and psychosocial limitations for AYAs. This study offers valuable insight into developmentally appropriate practices of Australasian health professionals who care for AYAs with, or at risk of, LFS. These findings suggest they may foster the autonomy of minors undergoing predictive TP53 genetic testing and be supportive of new whole-body risk management guidelines.

Family Health Leaders: Lessons on Living with Li-Fraumeni Syndrome across Generations.

Li-Fraumeni Syndrome (LFS) is a hereditary disorder that confers an approximately 90% lifetime risk of cancer and requires comprehensive lifetime cancer screening. We explored healthcare roles for managing LFS-related cancer risks and treatments that were assumed by parents, adolescents, and adult children. Semi-structured interviews were conducted with 23 families. Family groupings were comprised of 2-5 members, with the younger generation in each family ranging in age from 7 to 40 years. Using grounded theory methods, we conducted open and focused coding of interview transcript content. Family members described how the role of health leader was implemented in their family, as well as factors such as maturation of a child or death of a member that determined who assumed particular roles and how these roles shifted over time. They often expressed collective responsibility for helping relatives understand LFS and implement appropriate cancer risk management. Members demonstrated their health role by attending others' medical appointments for support or information gathering. The health leader role was intergenerational and provided the family necessary support in navigating complicated healthcare decisions. Our findings provide insight into healthcare providers regarding how LFS patients and their relatives develop unique medical decision-making and caring roles influenced by the hereditary nature of LFS, and how these roles change over time. Providers who are attuned to family role dynamics may be better able to meet relatives' psychosocial and medical needs by understanding how living with LFS influences the family system's functioning and facilitating members' support for each other.

El síndrome de Li-Fraumeni (LFS) es un trastorno hereditario que concede aproximadamente un 90 % de riesgo durante toda la vida de contraer cáncer y exige exámenes completos para la detección del cáncer de por vida. Analizamos los roles sanitarios a la hora de manejar los riesgos y los tratamientos de cáncer relacionados con el LFS que asumieron los padres, los adolescentes y los hijos adultos. Se realizaron entrevistas semiestructuradas con 23 familias. Los agrupamientos familiares estaban compuestos por entre 2 y 5 familiares, donde la edad de la generación más joven de cada familia oscilaba entre 7 y 40 años. Utilizando los métodos de la teoría fundamentada, realizamos una codificación abierta y centrada del contenido de la transcripción de la entrevista. Los miembros de la familia describieron cómo se implementó el rol de jefe de la salud en su familia, así como factores como la maduración de un niño o la muerte de un miembro que determinaron quiénes asumieron roles particulares y cómo estos roles cambiaron con el tiempo. Con frecuencia ellos expresaron la responsabilidad colectiva de ayudar a los familiares a comprender el LFS y a implementar el manejo adecuado del riesgo de contraer cáncer. Los familiares demostraron sus roles sanitarios asistiendo a citas médicas de los demás para recibir apoyo u obtener información. El rol de jefe sanitario fue intergeneracional y proporcionó a la familia el apoyo necesario para manejarse ante decisiones complicadas sobre la asistencia sanitaria. Nuestros resultados brindan información para los prestadores de servicios médicos con respecto a cómo los pacientes de LFS y sus familiares desarrollan roles únicos para la toma de decisiones médicas y el cuidado influenciados por la índole hereditaria del LFS, y cómo estos roles cambian con el tiempo. Es posible que los prestadores que estén acostumbrados a la dinámica de roles familiares sean más capaces de satisfacer las necesidades psicosociales y médicas de los familiares si comprenden cómo vivir con LFS influye en el funcionamiento del sistema familiar y si facilitan el apoyo mutuo de los familiares.

Actions and Uncertainty: How Prenatally Diagnosed Variants of Uncertain Significance Become Actionable.

The development of genomic technologies has seemed almost magical. Excitement about it, both in medicine and among the public, stems from the belief that genomic techniques will illuminate the causes of health and disease, will lead to effective interventions for both rare and common genetic conditions, and will inform reproductive decision-making. Novel diagnostic tools, however, are often deployed before targeted therapies are developed, tested, or available and before their psychosocial implications are explored. Newer technologies such as prenatal whole exome screening are seen as offering "decisional autonomy" to expectant parents, although such technologies identify information about genetic sequencing that may not have clear meaning. The "therapeutic gap" between the ability to conduct genetic sequencing and the ability to fully understand what the test results mean, much less what treatments to offer, leaves families with complex and unclear information they cannot act upon with confidence during pregnancy. In this essay, we will consider the psychosocial and ethical implications of such assumptions-and of the uncertain information produced by these technologies-for individuals and families and for societal aspects such as medical service usage and demographic inequities.

Legacies and Relationships: Diverse Social Networks and BRCA1/2 Risk Management Decisions and Actions.

In families with hereditary breast/ovarian cancer, complex disease histories challenge established patterns of family communication and influence decision-making for clinical surveillance, genetic testing, and risk management. An interdisciplinary team examined longitudinal interview data from women with identified BRCA1/2 mutations to assess interactions within family and social networks about risk information communication and management. We used interpretive description to identify motivation, content, and derived benefit of these interactions. Participants discussed risk information and management strategies with biological and nonbiological network members for multiple purposes: discharging responsibility for risk information dissemination, protecting important relationships, and navigating decision trajectories. Evolving interactions with loved ones balanced long-standing family communication patterns with differing personal preferences for privacy or open sharing, whereas interactions with nonbiological network members expanded participants' range of choices for sources of risk management information. Ongoing assessment of social networks may help support engagement with risk management by aligning with patient social needs.

Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence.

PURPOSE: Li-Fraumeni Syndrome (LFS) is an inherited tumor predisposition syndrome with lifetime cancer risks approaching 100% and evolving risk-management strategies. This study evaluated couples' coping with LFS-related burdens. RESEARCH APPROACH: Constructivist grounded theory and anticipatory loss frameworks guided design and analysis. SAMPLE AND METHODS: Twenty-six individuals enrolled in the NCI LFS Family Study completed semi-structured interviews with their partner during annual screening visits. An interdisciplinary team completed open and focused coding to identify patterns of coping and adaptation. FINDINGS: Couples described living with ambiguous danger, a state of chronic apprehension resulting from LFS-associated uncertainties. Most couples communicated openly and alternated shouldering the burden, while others engaged in protective buffering to shield each other from distress and sustain the appearance of normalcy. INTERPRETATION: Optimally, coping reduces shared psychosocial distress, yet some strategies may inadvertently increase disconnection. IMPLICATIONS: Mental health support is critical for both partners coping with LFS, together and separately.