Navigating disclosure in new romantic partnerships as an adolescent or young adult with Li-Fraumeni syndrome.

Li-Fraumeni syndrome (LFS) is an early-onset cancer syndrome caused by pathogenic germline TP53 variants. Adolescents and young adults (AYAs) with LFS may have challenges navigating new romantic partnerships given the significant effects of LFS on multiple life domains that also affect partners (e.g.

'I told them they had to get tested, and they did': social influence among siblings with Li-Fraumeni syndrome.

Objectives: Health-related social influence refers to individual efforts to change another person's health beliefs and/or behavior. We sought to understand perspectives on social influence among adult siblings in families with an inherited cancer syndrome, Li-Fraumeni Syndrome (LFS).

Design: An interprofessional team conducted 16 semi-structured interviews with sibling groups ( = 29, aged 18-66, 2-3 siblings per group) enrolled in the NCI's LFS Study.

'Finding Comfort in Discomfort': A Qualitative Study of Cancer Clinicians and Researchers' Experiences of Conducting a Cancer Rapid Autopsy Program.

Background: Rapid autopsy offers a tantalising opportunity to better characterise metastatic disease and determine how malignancies evade treatment. The CASCADE (CAncer tiSsue Collection After DEath) rapid autopsy program at the Peter MacCallum Cancer Centre, established in 2012, has conducted more than 100 autopsies. The experiences of clinicians and researchers who conduct this program can offer insight into how a unique program can be conducted sensitively and how their involvement impacts them personally and professionally.

"Crying in the Wilderness"-The Use of Web-Based Support in Telomere Biology Disorders: Thematic Analysis.

Background: Web-based information and social support are commonly used in rare disease communities where geographic dispersion and limited provider expertise complicate in-person support. We examined web-based resource use among caregivers of individuals with telomere biology disorders (TBDs), which are rare genetic conditions with long diagnostic odysseys and uncertain prognoses including multiorgan system cancer risk.

Objective: This study explored internet-based information-seeking and social support practices and perspectives of patients with TBDs and their caregivers.

A "rotating menu" of medical uncertainty for families affected by telomere biology disorders: A qualitative interview study.

Background: Medical uncertainty may cause distress and challenge medical decision-making for patients with rare diseases and their caregivers. Few studies have examined the experience and management of medical uncertainty in rare disease and the dynamics of multiple medical uncertainty sources, issues, and management strategies.

Objective: We explored the experience and management of uncertainty in individuals with telomere biology disorders (TBDs), a set of rare cancer-prone bone marrow failure syndromes, and their caregivers.

Relating to the Body Under Chronic Cancer Threat: Implications for Psychosocial Health Among Adolescents and Young Adults with Cancer Predisposition Syndromes.

Adolescents and young adults (AYAs) with cancer predisposition syndromes often experience significant physical and psychosocial burdens. These burdens include cancer worry and potentially distressing bodily changes due to risk-reducing procedures (e.g.

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.

Exploring Consumers' Motivations and Experiences of Engaging as Partners in Cancer Research.

Background And Objective: Consumer engagement improves research quality and relevance but can be difficult to implement. This study aimed to explore the motivations and understand the barriers, if any, experienced by consumers before and when partnering with cancer research teams.

Methods: Semi-structured interviews were conducted with consumers and the results analysed thematically.

Patient communication and experiences in cancer clinical drug trials: a mixed-method study at a specialist clinical trials unit.

Background: As cancer therapies increase in their complexity, effective communication among patients, physicians, and research staff is critical for optimal clinical trial management. Currently, we understand little about on-trial communication practices and patient trial experiences over time. This mixed-method study explored patient experiences of participating in a clinical drug trial at different time points, focussing on patient communication with trial staff.

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.

Becoming and being a parent with an inherited predisposition to diffuse gastric cancer: A qualitative study of young adults with a pathogenic variant.

Purpose: This study explored the experiences of young people with hereditary diffuse gastric cancer (HDGC), an inherited cancer predisposition syndrome, as they navigate becoming and being a parent.

Design: We used interpretive description and conducted semi-structured interviews with 13 young Australians (18-39 years) with a pathogenic variant (PV). Data were analyzed using team-based, reflexive thematic analysis.

The Clinical and Psychosocial Outcomes for Women Who Received Unexpected Clinically Actionable Germline Information Identified through Research: An Exploratory Sequential Mixed-Methods Comparative Study.

Background Research identifying and returning clinically actionable germline variants offer a new avenue of access to genetic information. The psychosocial and clinical outcomes for women who have received this ‘genome-first care’ delivering hereditary breast and ovarian cancer risk information outside of clinical genetics services are unknown. Methods: An exploratory sequential mixed-methods case-control study compared outcomes between women who did (cases; group 1) and did not (controls; group 2) receive clinically actionable genetic information from a research cohort in Victoria, Australia.

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.

Unselected Women's Experiences of Receiving Genetic Research Results for Hereditary Breast and Ovarian Cancer: A Qualitative Study.

Although there is growing consensus that clinically actionable genetic research results should be returned to participants, research on recipients' experiences and best practices for return of research results is scarce. This study explored how women in a population-based study (pool) experience receiving research results about actionable pathogenic variants (PVs) for hereditary breast and ovarian cancer (HBOC) using a two-step notification process with telephone genetic counseling (TGC) support. We conducted qualitative interviews with pool participants with an HBOC PV.

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.

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 art and science of recruitment to a cancer rapid autopsy programme: A qualitative study exploring patient and clinician experiences.

Background: CASCADE is a successful, Australia-first cancer rapid autopsy programme. Patients are recruited to the programme by their clinician once they understand that further treatment has only palliative intent. Despite its value, rapid autopsy is a rare research method owing partly to recruitment challenges.

Finding the five-year window: A qualitative study examining young women's decision-making and experience of using tamoxifen to reduce BRCA1/2 breast cancer risk.

Objective: Tamoxifen has been demonstrated to reduce breast cancer risk in high-risk, premenopausal women. Yet, very few young women with hereditary breast and ovarian cancer syndrome in Australia use tamoxifen, despite this being a less-invasive option compared to risk-reducing mastectomy. This study aims to examine young women's decision-making about and experience of taking tamoxifen to reduce their breast cancer risk.

"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.

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.

Men's experiences of recontact about a potential increased risk of prostate cancer due to Lynch Syndrome: "Just another straw on the stack".

The practice of recontacting patients to provide new health information is becoming increasingly common in clinical genetics, despite the limited research to evidence the patient experience. We explored how men with Lynch Syndrome (LS) understand and experience being recontacted about a potential increased risk of prostate cancer. Sixteen men with LS (Meanage 51 years) were recruited from an Australian screening study to undergo a semi-structured interview.

Evaluation of telephone genetic counselling to facilitate germline BRCA1/2 testing in women with high-grade serous ovarian cancer.

Systemic healthcare issues and geographical challenges restrict women's access to BRCA1/2 testing to inform the use of tailored treatments for high-grade serous ovarian cancer. Consequently, BRCA1/2 testing in this population is low and improved testing pathways are urgently needed. This study aimed to determine the acceptability and feasibility of telephone genetic counselling (TGC) to facilitate treatment-focused BRCA1/2 testing in Australia for women with high-grade serous ovarian cancer.

A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome?

Purpose: Li-Fraumeni syndrome (LFS), a multiorgan cancer predisposition caused by germline TP53 mutations, confers significant cancer risks for young people (15-39 years). Yet evidence of how individuals experience this condition and the psychosocial implications are lacking. Therefore, this systematic review assessed the psychosocial implications of living with, or at risk of, an autosomal dominant condition as a young person, to draw evidence that may be analogous for young people with LFS.