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Hereditary cancer syndromes are inherited pathogenic genetic variants that significantly increase the risk of developing cancer. When individuals become aware of their increased probability of having cancer, the whole family is affected by this new reality and needs to adjust. However, adjustment to hereditary cancer syndromes has been mainly studied at an individual level, and research about familial adjustment remains dispersed and disorganized. To overcome this gap, this review aims to understand how families adjust to genetic testing and risk management, and to what extent the family’s adjustment influences the psychological response and risk management behaviors of mutation carriers. We conducted searches on the PubMed/Med Line, PsycInfo, SCOPUS, and Google Scholar databases and used the Mixed Methods Appraisal Tool (MMAT-v2018) to assess the methodological quality of each selected study. Thirty studies met the inclusion criteria. Most results highlighted the interdependent nature of adjustment of pathogenic variant carriers and their families. The way carriers adjust to the syndrome is highly related to how family members react, particularly partners and siblings dependent on prior family functioning. Couples who share their worries and communicate openly about cancer risk present a better long-term adjustment than couples who use protective buffering (not talking about it to avoid disturbing the partner) or emotional distancing. Parents need help dealing with disclosing genetic information to their children. These findings reinforce the importance of adopting a family-centered approach in the context of genetic counseling and the necessity of involving family members in research.

Benavente (Portugal) is a small town which, compared to the rest of the country, has higher levels of the following three types of risks: earthquakes (natural risk), criminality (social risk) and the running of the bulls (cultural risk). This has allowed us to explore spatial bias, i.e., whether people have lower perceptions of risk at the local level than at the national or international levels, or if there are any risks strongly related with the local culture that show a different pattern. We also test whether risk perception dimensions identified by a psychometric paradigm relate to the three risk types that are highly prevalent in Benavente. The results support the spatial bias in relation to earthquakes and criminality but reveal a reverse pattern regarding the running of the bulls (cultural risk). The results also showed that people scored higher on the Dread dimension for earthquakes, followed by criminality, with lower scores in regard to the running of the bulls. The opposite was verified regarding the Control dimension.

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Background Hereditary cancer syndromes have been conceptualized as a family level process. The present study explores the complexity and challenges of family adaptation to the hereditary cancer syndrome, in the context of genetic counseling and long-term cancer risk management and follow-up surveillance. Methods We performed semi-structured interviews with 13 participants with one of the following hereditary cancer syndromes: Lynch Syndrome, Hereditary Diffuse Gastric Cancer Syndrome, Hereditary Breast and Ovarian Cancer Syndrome, or Familial Adenomatous Polyposis. The interview was developed through a participatory approach with the involvement of healthcare professionals and individuals with first-hand experience of living with the hereditary cancer syndromes. Results The family is the main source of information and emotional support to deal with hereditary cancer syndromes. Multiple individual adaptation processes and communal coping networks interact, influencing the emotional and health-related behavior of family members. This is affected and affects the family’s communication and its’ members reactions to disclosure, with consequent changes in relationships. Conclusions The systemic interdependent dynamics of family adaptation calls for family-centered care of genetic cancer syndromes.

Research usually investigates adolescents and young adults (AYA) with cancer in combination with younger and older cancer patients and survivors. However, AYAs with cancer are a unique group, and their caregivers’ experience may also differ from other caregivers of cancer survivors. This systematic review aims to understand the impact of a cancer diagnosis on family caregivers, comparing the experience of caregivers of AYA childhood cancer survivors (AYA CCS) and caregivers of AYA with cancer. Relevant studies were identified through PubMed, Scopus, and Web of Science databases, and their quality was assessed using the Joanna Briggs Institute’s critical appraisal checklists. Sixteen studies (17 reports) met the inclusion criteria. Findings were synthesized separately for caregivers of AYA CCS and caregivers of AYA with cancer. Results showed that caregivers in both groups experienced high distress after the diagnosis. Partners of AYAs with cancer experienced diminished quality of life (QoL) and over half reported moderate to high fear of cancer recurrence (FCR). Findings indicated that cancer negatively impacts family caregivers, regardless of the patient’s age at diagnosis. However, findings are heterogeneous, and most do not focus on QoL or FCR. More research is needed on the impact of cancer among these family caregivers.

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Background: The presence of structural and functional changes in the left ventricle (LV) are good predictors of cardiovascular events in patients with chronic kidney disease (CKD) and are associated with decreasing renal function. Studies in CKD patients on hemodialysis evidenced associations of serum 25-OH vitamin D (vit D) with myocardial function and structural changes. However, it is not known whether serum vit D is associated with Doppler echocardiogram (ECHO)-based cardiac changes in patients with CKD managed conservatively. Hypothesis: Hypovitaminosis D is associated with ECHObased cardiac changes in patients with CKD managed conservatively. Methods: This cross-sectional study included patients with CKD managed conservatively at a reference nephrology outpatient clinic. CKD stage was classified according to the KDIGO guidelines. The glomerular filtration rate was estimated by the CKD-EPI equation. Serum vit D was classified as insufficient/deficient when < 30 ng/mL and as normal when ≥ 30 ng/mL. ECHO-based cardiac changes were classified according to the American Society of Echocardiography criteria. Results: Serum vit D was measured in 137 of the 141 study patients, and 112 patients underwent ECHO. The mean age was 58.8 ± 16.0 years. Most patients were female and 80% self-reported being non-blacks. In multivariate analysis, insufficient/deficient serum vit D levels were independent risk factors for changes in ventricular geometry (OR: 3.85; p = 0.041) and reduced LV ejection fraction (OR: 1.06; p = 0.044), when compared to normal vit D serum levels. Conclusion: In patients with CKD managed conservatively, hypovitaminosis D is independently associated with structural and functional changes in the heart.