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Background: Comorbid psychological distress (i.e. insomnia and depression) is experienced by 20–40% of patients with cardiovascular disease. This has a considerable impact on their health and quality of life, leading to frequent re-hospitalisations, higher healthcare costs and a shorter life expectancy. Internet-based cognitive behavioural therapy shows great potential for treating psychological distress in cardiovascular disease. Effective and feasible treatments can, however, only benefit patients if they are fully implemented in clinical care. Aim: This scoping review aimed to explore the literature for internet-based cognitive behavioural therapy in cardiovascular disease and for strategies to implement the intervention. Methods: We searched electronic databases, journals and internet sources to find original studies about internet-based cognitive behavioural therapy in cardiovascular disease, adhering to scoping methodology guidelines. After identifying 267 titles, we screened 40 abstracts and chose 11 full-text articles for full-text screening. The results sections in four articles were searched for outcomes that related to the effectiveness and implementation of internet-based cognitive behavioural therapy by directed qualitative content analysis using an implementation framework. Results: Three of the four articles fulfilling the inclusion criteria concerned internet-based cognitive behavioural therapy for treating mild to moderate depressive symptoms in cardiovascular disease, and none focused on insomnia. The studies showed evidence for the effectiveness of internet-based cognitive behavioural therapy, and/or described patient factors influencing clinical effectiveness. Our qualitative content analysis showed that many implementation aspects and stakeholder perspectives remain unexplored. Conclusions: Internet-based cognitive behavioural therapy promises to alleviate patient suffering in cardiovascular disease. There is, however, little research about internet-based cognitive behavioural therapy for cardiovascular disease, and about how this evidence-based intervention is implemented. [ABSTRACT FROM AUTHOR]

Germline mutations of BRCA1 and BRCA2 predispose individuals to a high risk of breast and ovarian cancer, and elevated risk of other cancers, including those of the pancreas and prostate. BRCA2 mutation carriers may have increased risk of uveal melanoma (UM) and cutaneous melanoma (CM), but associations with these cancers in BRCA1 mutation carriers have been mixed. Here, we further assessed whether UM and CM are associated with BRCA1 or BRCA2 by assessing the presence, segregation and reported/predicted pathogenicity of rare germline mutations (variant allele frequency < 0.01) in families with multiple members affected by these cancers. Whole-genome or exome sequencing was performed on 160 CM and/or UM families from Australia, the Netherlands, Denmark and Sweden. Between one and five cases were sequenced from each family, totalling 307 individuals. Sanger sequencing was performed to validate BRCA1 and BRCA2 germline variants and to assess carrier status in other available family members. A nonsense and a frameshift mutation were identified in BRCA1, both resulting in premature truncation of the protein (the first at p.Q516 and the second at codon 91, after the introduction of seven amino acids due to a frameshift deletion). These variants co-segregated with CM in individuals who consented for testing and were present in individuals with pancreatic, prostate and breast cancer in the respective families. In addition, 33 rare missense mutations (variant allele frequency ranging from 0.00782 to 0.000001 in the aggregated ExAC data) were identified in 34 families. Examining the previously reported evidence of functional consequence of these variants revealed all had been classified as either benign or of unknown consequence. Seeking further evidence of an association between BRCA1 variants and melanoma, we examined two whole-genome/exome sequenced collections of sporadic CM patients (total N = 763). We identified one individual with a deleterious BRCA1 variant, however, this allele was lost (with the wild-type allele remaining) in the corresponding CM, indicating that defective BRCA1 was not a driver of tumorigenesis in this instance. Although this is the first time that deleterious BRCA1 mutations have been described in high-density CM families, we conclude that there is an insufficient burden of evidence to state that the increased familial CM or UM susceptibility is because of these variants. In addition, in conjunction with other studies, we conclude that the previously described association between BRCA2 mutations and UM susceptibility represents a rare source of increased risk.