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The academy's separation of the arts from the sciences constricts researchers' opportunities to engage with works of art and literature that pause our time-worn processes of data collection and analysis. From the works of Humboldt and Goethe to more recent writers and artists, literature and art offer us moments to stop and think differently about the ways in which we interact with our environment and others, human and nonhuman. In moments of enchantment, awe or stillness, we might lose ourselves, and imagine other less anthropocentric ways of being in the world and new transdisciplinary forms of collaboration. [ABSTRACT FROM AUTHOR]

The 2019–2020 "Black Summer" bushfire season woke Australian and global populations to the harsh realities of a changing climate. The impact was profound, and it remains ongoing. Social media cast a spotlight on—and propelled into a mediatised, virtual space—the suffering of humans and other species. In particular, the iconic and severely threatened koala was a highly visible non-human species directly harmed alongside thousands of species in the order of individual billions. This article explores what comes to matter in the realms of affect, care and action, as observed in the public sphere via social media and the use of hashtags to interpret and performatively frame events. The catastrophic bushfires prompted a heightened multispecies awareness in the greater population. This article argues that the disaster produced a transversal event through social media communications, one that de-centred the human, allowing for novel connections between the human and non-human, prompting new questions and creating new responsibilities. [ABSTRACT FROM AUTHOR]

In the mighty, dense rainforests of Indonesia, orangutans swing between trees, pygmy elephants snack on grasses and fruits, and tigers roam the thickets. Although the scientists hope that their research on the heat stress impacts of deforestation provides even more reasons to curb climate change and deforestation on a global scale, they also hope it offers incentives to reconsider tree clearing on a regional or local scale. The Parsons-led team also examined the states of Mato Grosso and Pará, Brazil, to determine the impacts of deforestation on temperatures and working conditions in tropical areas that had seen large-scale tree loss. Yuta Masuda, a sustainable development and behavioral scientist at TNC, was one of the original group of scientists who surveyed the villagers' perceptions of deforestation in Borneo in 2018. [Extracted from the article]

We compare lesbian, gay, bisexual, and queer (LGBQ+; n = 355) to heterosexual (n = 1227) student experiences with victimization and disclosure. In spring of 2019, random samples of undergraduate and graduate students were invited to take an online victimization survey. Chi-square and logistic regression analyses were conducted to examine disclosure patterns of LGBQ+ and heterosexual students who experienced intimate partner violence or sexual violence. Among those with victimization experiences, we assessed differences in whether and to whom the LGBQ+ and heterosexual students disclosed these experiences. We find that a greater proportion of LGBQ+ students than heterosexual students experience intimate partner violence and sexual victimization in their lifetimes. In addition, a greater proportion of LGBQ+ students experienced sexual victimization since entering the university, before entering the university, in the past academic year, and revictimization. Similar proportions of LGBQ+ and heterosexual students told an informal resource (such as a friend or family member) about their victimization experience. However, in logistic regression models, LGBQ+ students (relative to heterosexual students) had greater odds of telling off-campus formal resources about intimate partner violence and sexual violence. They also had greater odds of telling on-campus formal resources about sexual violence, but not intimate partner violence. It is crucial that on-campus university prevention and intervention services are trauma-informed, inclusive, and anti-oppressive to prevent or mitigate short- and long-term impacts of victimization for vulnerable populations and promote disclosure. Universities must provide support services for intimate partner violence at the same level as sexual violence services. [ABSTRACT FROM AUTHOR]

This study examined incoming male college students' proclivity to perpetrate sexual assault at a large public university in the Northeast (n = 1,619). Overall, self-reported proclivity to perpetrate was low (between 20–26%). Students' perception that a peer would intervene as a bystander was negatively associated with proclivity, while acceptance of certain rape myths was positively associated with proclivity. Students who intended to join a fraternity and White students had increased proclivity to perpetrate using force or incapacitation. Based on these findings, recommendations for sexual assault prevention efforts are included. [ABSTRACT FROM AUTHOR]

Community-engaged research takes place at a complex social site that has both a history and a future as well as encompassing the project activities of the researchers and community members. We argue that a crucial methodological aspect of undertaking such research is the development of trust relationships between researchers and community. We propose that for each research project, this relationship can best be understood as a 'sphere of engagement', after Ingold's 'sphere of nurture', and that trust and care are emergent and binding qualities of this sphere. Tracing the development of trust relationships in a case study, using the idea of security-based trust and harmony-based trust, we conclude that trust, and the related concept of care, bind together people, events, histories and futures beyond the dichotomous and time-delimited relationship of a research contract, and carry the sphere of engagement of researchers and community beyond the life of any one project. [ABSTRACT FROM AUTHOR]

Conjunctival nevi are the most common tumor of the ocular surface. There are some rare reports of so-called 'giant' conjunctival nevi. We report a case of a 47-year-old female with a cutaneous and ocular surface giant congenital melanocytic nevus and describe her clinical course. This is a retrospective case report of a single patient. A 47-year-old female with a history of biopsy-proven periorbital congenital melanocytic nevus, with an associated giant conjunctival nevus presented for structural and functional rehabilitation. Serial surgeries were performed and excised tissue was sent for histopathological and genetic examination. The conjunctival nevus had a low tumor mutation burden, and of the 647 somatic mutations, only one occurred within a protein coding region, namely NRAS p.Gln61Arg. This is the first reported adult case including genomic analysis of an ocular surface giant congenital melanocytic nevus. The case shows a possible association between periorbital congenital melanocytic nevi and giant conjunctival nevi, and underscores the possible role that targeted drug therapies may have in malignant transformation of these conditions. [ABSTRACT FROM AUTHOR]

Reconciliation between Indigenous and non-Indigenous people in Australia is defined officially as consisting of 'two-way relationships built on trust and respect', recognition and acceptance of rights, histories and cultures, and institutional and community support for 'all dimensions' of reconciliation. We suggest, after Alexandre Da Costa (2016. The (un)happy objects of affective community. Cultural studies, 30, 24–46), that the burden of supporting reconciliation is borne differentially by Indigenous and non-Indigenous peoples; it is seen by the latter as an apparently 'happy object' in Sara Ahmed's sense, but as an 'unhappy object' for many Aboriginal Australians, who have argued that it requires first a process of makarrata, or peace-making. Traditionally this has included some reciprocal pain for perpetrators, and we suggest here that the desire of many Aboriginal people to develop a public heritage of massacre sites and former 'fringe camps' offers an opportunity for non-Indigenous people to take hold of, and hold onto, a prickly and difficult past as part of a process of makarrata. [ABSTRACT FROM AUTHOR]

This study utilized an experimental design to determine how bystanders would intervene in campus sexual assault (SA) or intimate partner violence (IPV) situations. Specifically, it examines whether the type of intervention (direct, indirect, or delegation) is associated with relational distance, the nature of the crime, or the sex of the bystander. A random sample of college students completed a web-based survey at a private university in the Midwest. Survey participants were randomly assigned two vignettes—an SA scenario (n = 371) and an IPV scenario (n = 350)—with one of three conditions: knew the victim, knew the perpetrator, or knew neither. Chi-square tests, binary logistic regressions, and predicted probabilities were conducted to test three hypotheses. Results indicate that relational distance affects how a bystander will intervene. In the SA vignette, students who knew the victim or perpetrator chose direct intervention. In the IPV vignette, students who knew the victim or perpetrator chose direct or indirect interventions. Students who knew neither the victim nor the perpetrator tended to choose to delegate the intervention to someone else for both crime types. Although there were differences by sex, the larger differences were between whether they knew someone or not. Still, men had the highest probability of directly intervening in the SA scenario, whereas women had the highest probability of indirectly intervening in the IPV scenario. The results of this study suggest that campus violence prevention programs should consider context-specific issues in their trainings such as relational distance and type of crime. [ABSTRACT FROM AUTHOR]

Waiting is one of the most common phenomena in ethnographic and other community-based research. Nevertheless, it remains under-explored in academic writing about the theoretical and methodological aspects of fieldwork. While waiting time often allows new data or information to emerge, we argue that such times have a significance independent of knowledge outcomes. We review various conceptions of waiting: as a time for self-awareness; the use of enforced waiting to exert power over the disadvantaged; and its obverse, the choice by the more powerful to ‘wait upon’ another’s needs and priorities. We use stories from our own fieldwork experience to suggest that in the particular context of ethnographic or community-based research, the choice to ‘wait upon’ others is a form of researcher reflexivity that can partially redress historical or current power imbalances. [ABSTRACT FROM AUTHOR]

Aim/Purpose The aim of this paper is to identify some of the issues in writing a transdisciplinary doctoral thesis and to develop strategies for addressing them, particularly focusing on the presentation of data and data analysis. The paper, based on the authors' own experience, offers guidance to, and invites further comment from, transdisciplinary doctoral candidates, their supervisors and their examiners, as well as the broader field of interdisciplinary and multidisciplinary researchers. Background The paper uses the authors' experience of writing four very different transdisciplinary doctoral theses to examine the diverse responses received from examiners and what this means for the thesis writing process. The theses and examiners' reports span an array of disciplinary and transdisciplinary epistemologies, ontologies, and world views. Methodology A preliminary review of the examiners' reports revealed a common concern with the definition of 'data' and with 'data analysis'. The examiners' reports were then more formally coded and thematized. These themes were then used to reflect critically on the four theses, within a broad interpretive framework based on the idea of writing 'convincingly', and in light of current literature on the meaning of 'data' and the idea and aims of transdisciplinarity. Contribution The paper offers specific strategies for doctoral candidates, their supervisors, and examiners in working with the burgeoning number of doctoral research projects that are now taking place in the transdisciplinary space. Findings Doctoral candidates engaged in transdisciplinary research need to define what they mean by data and make data visible in their research, be creative in their conceptions of data and in how they communicate this to examiners, specify the quality criteria against which they wish their work to be assessed and hold discussions with their supervisors about examiner appointments and briefing, and communicate to examiners the special value of transdisciplinary research and the journey on which it takes the researcher. Our conclusion connects these findings to the development of an emerging concept of transdisciplinary research writing. [ABSTRACT FROM AUTHOR]

Bystander intervention is receiving increased attention as a potential sexual violence prevention strategy, especially to address campus sexual assault. Rather than focusing on potential perpetrators or victims, the bystander approach engages all members of a community to take action. A growing body of evaluative work demonstrates that bystander intervention education programs yield increased positive attitudes and behaviors related to sexual violence and greater willingness to intervene in pro-social ways. Future program outcome studies, however, would benefit from more refined measures of bystander action as it is a key variable that prevention education programs attempt to influence. The purpose of the current article is to present key issues, identified by four different research teams, on the measurement of bystander behavior related to sexual violence in the context of college campuses. Comparisons among the methods are made to suggest both lessons learned and new directions for bystander behavior measurement using self-report surveys in program evaluation. [ABSTRACT FROM AUTHOR]

To transgress is 'to do something that is not allowed'; in a human-constructed world, animals, especially those seen as 'incompanionate', are often deemed to be doing something not allowed. We explore the ethical dilemmas of 'transgression' in the context of critical reflection on an instructive example of dingo-human relations on Fraser Island, Australia, which has incited ongoing debate from diverse publics about the killing of 'problem' dingoes. We outline the historical and ethical complexity of such relations and suggest that human-nonhuman encounters, direct or indirect, have the potential to produce new, less anthropocentric topologies in which transgression is reconstructed, and humans and animals can share space more equitably. The kind of knowledge and ethical re-positioning beginning to emerge in dingo-human relations suggests transgression itself as a metaphor for its further re-imagining: a disruption of spatial, emotional and ethical boundaries to shape more responsive, respectful and less anthropocentric topologies [ABSTRACT FROM AUTHOR]

The article explores the impact of dedicated federal funds for additional campus-based programs aimed at reducing the number of violence against women in campuses. Topics discussed include the state of sexual assault crimes against women including reasons women tend to report sexual assault cases, differences in campus grant applications, and Liang and colleagues' theoretical model of help-seeking.

We examined whether risks to children of intimate partner violence survivors affected the type of legal assistance accessed. We hypothesized that the level and type of perceived child risk would be associated with whether women sought a protection order in civil court or filed charges against a current or former intimate partner in criminal court. Using data from a sample of predominantly African American women (N=293), we found that some forms of child risk were positively associated with seeking a civil order of protection but negatively associated with pressing criminal charges. Implications for practice, policy, and future research are presented. [ABSTRACT FROM AUTHOR]

The shift towards social, government and corporate ethics which value environmental sustainability has also embraced householders in a plethora of educational guides, policies, regulations and consumer information about green home improvements, purchasing choices and household practices. In this paper, we make the claim that the rental housing sector, and in particular the private rental sector, has yet to participate, structurally, culturally and materially, in this shift to an ethics of sustainability. We argue, however, that even on such otherwise arid ground, an alternative ethic is developing, a sustainability ethic practiced by green tenants whose activities inside and outside their homes go beyond the considerable material constraints of their dwellings and incomes, and beyond the purely transactional utility of the rental contract. These activities, relational, interconnected and resilient, offer both glimpses of a greening rental housing sector, and a clearer picture of the areas where work remains to be done. Based on a research study, we conducted of the rental sector in regional Australia, and in particular of the everyday sustainability practices of tenants, we suggest that these activities are a practice-based form of care for the world, in many ways similar to Maria Puig de la Bellacasa's practice-based, human-decentred ethics which she suggests is exemplified in the permaculture movement. The stories of the tenants we interviewed for our study also point the way to other changes which are needed to enable a practice-based sustainability ethic to flourish across the rental housing sector as a whole. [ABSTRACT FROM PUBLISHER]

In this paper we test several specific hypotheses derived from the intergenerational transmission of violence thesis to see if exposure to physical abuse has a special role in the etiology of violence. We employ a systematic statistical approach using data from the National Longitudinal Study of Adolescent Health (Add Health). Our findings suggest that a history of physical abuse is strongly associated with frequency of violence, but the association is not specific to violence and is mediated by their common association with nonviolent offending. Further, the association between physical abuse and violence is not significantly larger than the association between neglect or sexual abuse and violence. In summary, the data suggest that the association between abuse and violence is not unique to physical abuse and that the impact of physical abuse is not specific to violent behavior. [ABSTRACT FROM AUTHOR]

In this paper we examine the tension between the educational needs of a globalized world and the institutional structures of a globalized education system. One of the most important consequences of the current discipline-based education system is a missed opportunity to encourage reflexive thinking about discipline-based normative assumptions and world views. We argue that this is one of the conditions necessary for producing researchers and students who are culturally competent: able to engage with the community in messy non-discipline-specific problems, critique and integrate information from many knowledge sources and work collaboratively. We report on two case studies in Indigenous Australia and the Pacific: projects that involved students and that demonstrate the special quality and value of cultural competence and its connection with work across, and beyond, academic disciplines. [ABSTRACT FROM AUTHOR]

Research involving fieldwork can present the researcher with ethical dilemmas not anticipated in institutional ethics approval processes, and which offer profound personal and methodological challenges. The authors' experiences of conducting qualitative fieldwork in four distinctly different contexts are used to illustrate some of these unexpected consequences and ethical dilemmas. Issues encountered included: compromised relationships with informants which develop in unforeseen ways; engagement with traumatized informants which lead to unexpected roles for the researcher such as confidante, dealing with new information that is critical to informants' futures but could undermine the research project, and the implications of ethical decisions for research design and analysis. In our shared reflection on the four case studies in this paper, we examine anticipatory rather than reactive ways of dealing with such ethical dilemmas. Preparation and critical reflection are found to be key tools in relating to field informants, dealing with the personal challenges of undertaking field work, and developing useful research outcomes after returning home. We conclude by suggesting some issues for field researchers to consider in addition to the concerns addressed in a standard university ethics approval process. [ABSTRACT FROM AUTHOR]

The Violence Against Women Act of 2005 (Public Law Number 109-162), at Title IX, Section 904(a) (codified at 42 U.S.C. § 3796gg-10 note) mandates that the National Institute of Justice (NIJ), in consultation with the U.S. Department of Justice’s Office on Violence Against Women (OVW), conduct a national baseline study on violence against American Indian and Alaska Native (AI and AN) women living in tribal communities. As a result, NIJ has developed a comprehensive research program consisting of multiple projects that will be accomplished over an extended period of time to address this much needed research. The purpose of the research program is to: examine violence against AI and AN women (including domestic violence, dating violence, sexual assault, stalking, and murder) and identify factors that place AI and AN women at risk for victimization; evaluate the effectiveness of federal, state, tribal, and local responses to violence against AI and AN women; and propose recommendations to improve effectiveness of these responses. [ABSTRACT FROM PUBLISHER]

The article discusses research on the process and factors considered in selecting trees for urban highways and sites in Essex, England. It reports experimental procedures done which included data collection through interviews and questionnaires. It cites the necessity of tree selection policies which would determine budget and suitable species for a certain site. Aside from aesthetics, maintenance requirements and tree size were reportedly considered in the planting schemes of Essex councils.

The article discusses the threat of flood predicted by the research team of the Aberystwyth University in the glacial lakes of the Chileno Valley in Chile. It informs that the glaciologist Ryan Wilson researched on the glacial lake outburst flood (GLOF) conditions and the warming climate responsible for the melting of the glaciers. The geographers forecasted on the flood threat in the regions of Europe and Himalayas. The team will soon develop warning system on the flood conditions.

Protection of telomeres 1 (POT1) is a component of the shelterin complex of six subunits encoded by adrenocortical dysplasia protein homologue ( I ACD i ; also known as TPP1), I POT1 i , telomeric repeat binding factor 1 ( I TERF1 i ), telomeric repeat binding factor 2 ( I TERF2 i ), TERF1-interacting nuclear factor 2 ( I TINF2 i ) and TERF2 interacting protein ( I TERF2IP i ), which binds to single-stranded telomeric DNA to regulate telomere elongation and integrity.1 The telomerase and shelterin complexes play specific roles in telomere maintenance and prevention of activation of DNA damage response pathways at telomeres, by protecting single-stranded DNA (ssDNA) overhangs.1 Conserved oligonucleotide/oligosaccharide-binding (OB) domains in I POT1 i recognise specific ssDNA motifs with high affinity and are required for I POT1 i function.1 Acquired and inherited variants in I POT1 i that alter these OB folds are associated with longer telomeres due to disruption of shelterin function.2 Rare germline pathogenic variants in I POT1 i predispose to chronic leucocyte leukaemia (CLL), glioma, angiosarcoma, osteosarcoma, thyroid cancer, colorectal cancer and cutaneous melanoma (CM), collectively termed the POT1-tumour predisposition syndrome (POT1-TPDS; Fig 1). Proband II:1 was the only individual chosen for whole-genome sequencing (WGS) due to their extensive personal cancer history (MCC AUS244) to assess the burden of cancer risk alleles among individuals with multiple primary cancers. [Extracted from the article]

Approximately 1%–2% of cutaneous melanoma (CM) is classified as strongly familial. We sought to investigate unexplained CM predisposition in families negative for the known susceptibility genes using next‐generation sequencing of affected individuals. Segregation of germline variants of interest within families was assessed by Sanger sequencing. Several heterozygous variants in oculocutaneous albinism (OCA) genes: TYR, OCA2, TYRP1 and SLC45A2, were present in our CM cohort. OCA is a group of autosomal recessive genetic disorders, resulting in pigmentation defects of the eyes, hair and skin. Missense variants classified as pathogenic for OCA were present in multiple families and some fully segregated with CM. The functionally compromised TYR p.T373K variant was present in three unrelated families. In OCA2, known pathogenic variants: p.V443I and p.N489D, were present in three families and one family, respectively. We identified a likely pathogenic SLC45A2 frameshift variant that fully segregated with CM in a family of four cases. Another four‐case family harboured cosegregating variants (p.A24T and p.R153C) of uncertain functional significance in TYRP1. We conclude that rare, heterozygous variants in OCA genes confer moderate risk for CM. [ABSTRACT FROM AUTHOR]

There is currently no effective treatment for metastasised uveal melanoma (UM). Recently, it was reported that a UM patient was responsive to checkpoint inhibitor (CI) treatment, due to a high tumour mutation burden correlated with a germline loss-of-function MBD4 mutation. Here, we report on another UM patient who carried an MBD4 germline nonsense variant (p.Leu563Ter) and her tumour showed a fivefold higher than average mutation burden. We confirmed the association between germline loss-of-function variant in MBD4 and CI response. The patient experienced stable disease (10 months) and survived 2 years with metastatic disease, which is twice as long as median survival. Additionally, the frequency of MBD4 loss-of-function variants in reported UM cohorts was > 20 times higher than in an aggregated population genome database (P < 5 × 10−5), implying a potential role as UM predisposition gene. These findings provide a strong basis for the inclusion of MBD4 in the screening of potential UM-prone families as well as stratification of immunotherapy. [ABSTRACT FROM AUTHOR]

Investigates whether there has been an worldwide increase in familial melanoma. Study of age at onset among different birth cohorts in melanoma kindreds linked to a predisposition gene on chromosome 9; Cumulative incidence of melanoma; Interaction of sunlight exposure and mutation at the locus.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causes a respiratory illness called the novel coronavirus 2019 (COVID-19). COVID-19 was declared a pandemic on March 11, 2020. Bow tie analysis (BTA) was applied to analyze the hazard of SARS-CoV-2 for three receptor groups: patient or family member at the IWK Health Centre in acute care, staff member at a British Columbia Forest Safety Council (BCFSC) wood pellet facility, and staff member at the Suncor refinery in Sarnia, Ontario. An inherently safer design (ISD) protocol for BTA was used as a guide for evaluating COVID-19 barriers, and additional COVID-19 controls were recommended. Two communication tools were developed from the IWK bow tie diagram to disseminate the research findings. This research provides lessons learned about the barriers implemented to protect people from contracting COVID-19, and about the use of bow tie diagrams as communication tools. This research has also developed additional example-based guidance that can be used for the COVID-19 pandemic or future respiratory illness pandemics. Recommended future work is the application of BTA to additional industries, the consideration of ISD principles in other control types in the hierarchy of controls (HOC), and further consideration of human and organizational factors (HOF) in BTA. [ABSTRACT FROM AUTHOR]

Although risk factors for primary cutaneous melanoma are well defined, relatively little is known about predictors for second primary melanoma. Given the rising incidence of this cancer, coupled with improvements in survival, there is a prevalent and growing pool of patients at risk of second primary melanomas. To identify the predictors of second primary melanoma, we followed a cohort of 1,083 Queensland patients diagnosed with incident melanoma between 1982 and 1990 and who completed a baseline questionnaire. During a median follow-up of 16.5 years, 221 patients were diagnosed with at least one additional primary melanoma. In multivariate analyses, second primary melanomas were associated with high nevus count (hazard ratio (HR), 2.91; 95% confidence interval (CI) 1.94-4.35), high familial melanoma risk (HR, 2.12; 95% CI 1.34-3.36), fair skin (HR, 1.51; 95% CI 1.06-2.16), inability to tan (HR, 1.66; 95% CI 1.13-2.43), an in situ first primary melanoma (HR, 1.36; 95% CI 0.99-1.87), and male sex (HR, 1.49; 95% CI 1.12-2.00). Patients whose first primary was lentigo maligna melanoma (HR, 1.80; 95% CI 1.05-3.07) or nodular melanoma (HR, 2.13; 95% CI 1.21-3.74) had higher risks of subsequent primaries than patients whose first primary tumor was superficial spreading melanoma. These characteristics could be assessed in patients presenting with first primary melanoma to evaluate risk of developing a second primary. [ABSTRACT FROM AUTHOR]

Since 2011, when the landmark "Dear Colleague" letter declared that the Department of Education (DoE) would use equal-access requirements of federal law to remediate sexual assault on college campuses, 458 investigations have been opened. This letter was withdrawn in 2017 and it remains uncertain how the DoE will handle the issue in the future. We examine the effects of the investigations arising from the 2011 policy change on university outcomes. We find that applications and enrollment increase in response to Title IX investigations, for both males and females. We find little evidence of effects on degree completion or donations. [ABSTRACT FROM AUTHOR]

The authors regret that the online version of this article contains an error. The MBD4 mutation in sample MM138 was given an incorrect dbSNP ID. The correct ID is rs769076971. [ABSTRACT FROM AUTHOR]

Background: While a number of autosomal dominant and autosomal recessive cancer syndromes have an associated spectrum of cancers, the prevalence and variety of cancer predisposition mutations in patients with multiple primary cancers have not been extensively investigated. An understanding of the variants predisposing to more than one cancer type could improve patient care, including screening and genetic counselling, as well as advancing the understanding of tumour development. Methods: A cohort of 57 patients ascertained due to their cutaneous melanoma (CM) diagnosis and with a history of two or more additional non-cutaneous independent primary cancer types were recruited for this study. Patient blood samples were assessed by whole exome or whole genome sequencing. We focussed on variants in 525 pre-selected genes, including 65 autosomal dominant and 31 autosomal recessive cancer predisposition genes, 116 genes involved in the DNA repair pathway, and 313 commonly somatically mutated in cancer. The same genes were analysed in exome sequence data from 1358 control individuals collected as part of non-cancer studies (UK10K). The identified variants were classified for pathogenicity using online databases, literature and in silico prediction tools. Results: No known pathogenic autosomal dominant or previously described compound heterozygous mutations in autosomal recessive genes were observed in the multiple cancer cohort. Variants typically found somatically in haematological malignancies (in JAK1, JAK2, SF3B1, SRSF2, TET2 and TYK2) were present in lymphocyte DNA of patients with multiple primary cancers, all of whom had a history of haematological malignancy and cutaneous melanoma, as well as colorectal cancer and/or prostate cancer. Other potentially pathogenic variants were discovered in BUB1B, POLE2, ROS1 and DNMT3A. Compared to controls, multiple cancer cases had significantly more likely damaging mutations (nonsense, frameshift ins/del) in tumour suppressor and tyrosine kinase genes and higher overall burden of mutations in all cancer genes. Conclusions: We identified several pathogenic variants that likely predispose to at least one of the tumours in patients with multiple cancers. We additionally present evidence that there may be a higher burden of variants of unknown significance in ‘cancer genes’ in patients with multiple cancer types. Further screens of this nature need to be carried out to build evidence to show if the cancers observed in these patients form part of a cancer spectrum associated with single germline variants in these genes, whether multiple layers of susceptibility exist (oligogenic or polygenic), or if the occurrence of multiple different cancers is due to random chance. [ABSTRACT FROM AUTHOR]

Bystander intervention has been increasingly applied to prevent sexual violence on college campuses. Its underlying theory assumes unidirectional relationships between variables, predicting that bystander behaviors (i.e., actions taken to intervene in sexual violence situations) will be influenced by bystander intentions (BI; i.e., likelihood to intervene in the future), which in turn will be affected by bystander efficacy (BE; i.e., confidence to intervene). One question for theory is whether a reciprocal relationship exists between BI and BE. We used structural equation modeling (SEM) with longitudinal data to test unidirectional and reciprocal causal relations between BI and BE. Participants (n = 1390) were students at a northeastern US university. Four models were examined using SEM: (1) a baseline model with autoregressive paths; (2) a model with autoregressive effects and BI predicting future BE; (3) a model with autoregressive effects and BE predicting future BI; and, (4) a fully cross-lagged model. Results indicated that reciprocal causality was found to occur between BI and BE. In addition, a final model demonstrated indirect effects of a bystander intervention program on bystander behaviors through both BI and BE at different time points. Implications for theory and practice are described, and directions for future research discussed. [ABSTRACT FROM AUTHOR]

Mutations in Cyclin-Dependent Kinase Inhibitor 2A (CDKN2A) and Cyclin-Dependent Kinase 4 (CDK4) contribute to susceptibility in approximately 40% of high-density cutaneous melanoma (CMM) families and about 2% of unselected CMM cases. BRCA-1 associated protein-1 (BAP1) has been more recently shown to predispose to CMM and uveal melanoma (UMM) in some families; however, its contribution to CMM development in the general population is unreported. We sought to determine the contribution of these genes to CMM susceptibility in a population-based sample of cases from Australia. We genotyped 1,109 probands from Queensland families and found that approximately 1.31% harbored mutations in CDKN2A, including some with novel missense mutations (p.R22W, p.G35R and p.I49F). BAP1 missense variants occurred in 0.63% of cases but no CDK4 variants were observed in the sample. This is the first estimate of the contribution of BAP1 and CDK4 to a population-based sample of CMM and supports the previously reported estimate of CDKN2A germline mutation prevalence. [ABSTRACT FROM AUTHOR]

The article presents a study which examines the exhibition of a distinct gene expression pattern by primary melanomas from CDKN2A mutation. Findings reveal that cutaneous malignant melanoma (CMM) from CDKN2A germline mutation carriers do not have a distinct gene expression subtype. Also given are the clinicopathological and molecular features of sporadic melanomas and melanomas from the CDKN2A.

In this paper we explore the urban political ecologies ( UPEs) of rental housing through the lens of water to draw attention to the different conditions of access to 'resources for adaptation' in the material relations of public and private rental housing provision in a world of changing climate. Climate change introduces a profound dimension of uncertainty in the socio-material relations of urban life. However, the capacity of urban residents to make changes to their housing is uneven, and this uncertainty is amplified by the limited access of many tenants to 'resources for adaptation' such as gardens, water efficiency, and alternative energy and is exacerbated by regulatory practices, including leases, insurance, and capital investment, that help shape the socio-natural relations of tenure. UPE emphasises the hybrid nature of cities and the flows of people and materials that constitute the built environment. We draw on the insights of UPE alongside an appreciation of the dynamics of normal standards of comfort, cleanliness, and convenience in the home to reveal the complexities of attempts to engage more sustainably with water in rental property. This paper draws on a case study of rental property managers and tenants in Newcastle, NSW, Australia, to explore social and cultural processes that are both shaped by and shape rental housing provision. We reveal a suite of practices, materials, and discourses that assemble to make 'resources for adaptation' and simultaneously render water useful, troubled, or troublesome. [ABSTRACT FROM AUTHOR]

Partner and localizer of BRCA2 (PALB2) interacts with BRCA2 to enable double strand break repair through homologous recombination. Similar to BRCA2, germline mutations in PALB2 have been shown to predispose to Fanconi anaemia as well as pancreatic and breast cancer. The PALB2/BRCA2 protein interaction, as well as the increased melanoma risk observed in families harbouring BRCA2 mutations, makes PALB2 a candidate for melanoma susceptibility. In order to assess PALB2 as a melanoma predisposition gene, we sequenced the entire protein-coding sequence of PALB2 in probands from 182 melanoma families lacking pathogenic mutations in known high penetrance melanoma susceptibility genes: CDKN2A, CDK4, and BAP1. In addition, we interrogated whole-genome and exome data from another 19 kindreds with a strong family history of melanoma for deleterious mutations in PALB2. Here we report a rare known deleterious PALB2 mutation (rs118203998) causing a premature truncation of the protein (p.Y1183X) in an individual who had developed four different cancer types, including melanoma. Three other family members affected with melanoma did not carry the variant. Overall our data do not support a case for PALB2 being associated with melanoma predisposition. [ABSTRACT FROM AUTHOR]

Deleterious germline variants in CDKN2A account for around 40% of familial melanoma cases, and rare variants in CDK4, BRCA2, BAP1 and the promoter of TERT have also been linked to the disease. Here we set out to identify new high-penetrance susceptibility genes by sequencing 184 melanoma cases from 105 pedigrees recruited in the UK, The Netherlands and Australia that were negative for variants in known predisposition genes. We identified families where melanoma cosegregates with loss-of-function variants in the protection of telomeres 1 gene (POT1), with a proportion of family members presenting with an early age of onset and multiple primary tumors. We show that these variants either affect POT1 mRNA splicing or alter key residues in the highly conserved oligonucleotide/oligosaccharide-binding (OB) domains of POT1, disrupting protein-telomere binding and leading to increased telomere length. These findings suggest that POT1 variants predispose to melanoma formation via a direct effect on telomeres. [ABSTRACT FROM AUTHOR]

The article presents information on a study related to the familial cutaneous malignant melanoma (CMM) the CDKN2A, a tumor suppressor gene on chromosome 9p21, is responsible for which. It informs that the specific founder mutations account for most of the germline CDKN2A alterations in almost all the countries. It also presents two tables including one related to clinicopathological data of familial and sporadic melanoma patients and second on the frequency of the disease.

The question of whether influenza is transmitted to a significant degree by aerosols remains controversial, in part, because little is known about the quantity and size of potentially infectious airborne particles produced by people with influenza. In this study, the size and amount of aerosol particles produced by nine subjects during coughing were measured while they had influenza and after they had recovered, using a laser aerosol particle spectrometer with a size range of 0.35 to 10 μm. Individuals with influenza produce a significantly greater volume of aerosol when ill compared with afterward (p = 0.0143). When the patients had influenza, their average cough aerosol volume was 38.3 picoliters (pL) of particles per cough (SD 43.7); after patients recovered, the average volume was 26.4 pL per cough (SD 45.6). The number of particles produced per cough was also higher when subjects had influenza (average 75,400 particles/cough, SD 97,300) compared with afterward (average 52,200, SD 98,600), although the difference did not reach statistical significance (p = 0.1042). The average number of particles expelled per cough varied widely from patient to patient, ranging from 900 to 302,200 particles/cough while subjects had influenza and 1100 to 308,600 particles/cough after recovery. When the subjects had influenza, an average of 63% of each subject's cough aerosol particle volume in the detection range was in the respirable size fraction (SD 22%), indicating that these particles could reach the alveolar region of the lungs if inhaled by another person. This enhancement in aerosol generation during illness may play an important role in influenza transmission and suggests that a better understanding of this phenomenon is needed to predict the production and dissemination of influenza-laden aerosols by people infected with this virus. [Supplementary materials are available for this article. Go to the publisher's online edition of Journal of Occupational and Environmental Hygiene for the following free supplemental resources: a PDF file of demographic information, influenza test results, and volume and peak flow rate during each cough and a PDF file containing number and size of aerosol particles produced.] [ABSTRACT FROM PUBLISHER]

We sequenced eight melanoma exomes to identify new somatic mutations in metastatic melanoma. Focusing on the mitogen-activated protein (MAP) kinase kinase kinase (MAP3K) family, we found that 24% of melanoma cell lines have mutations in the protein-coding regions of either MAP3K5 or MAP3K9. Structural modeling predicted that mutations in the kinase domain may affect the activity and regulation of these protein kinases. The position of the mutations and the loss of heterozygosity of MAP3K5 and MAP3K9 in 85% and 67% of melanoma samples, respectively, together suggest that the mutations are likely to be inactivating. In in vitro kinase assays, MAP3K5 I780F and MAP3K9 W333* variants had reduced kinase activity. Overexpression of MAP3K5 or MAP3K9 mutants in HEK293T cells reduced the phosphorylation of downstream MAP kinases. Attenuation of MAP3K9 function in melanoma cells using siRNA led to increased cell viability after temozolomide treatment, suggesting that decreased MAP3K pathway activity can lead to chemoresistance in melanoma. [ABSTRACT FROM AUTHOR]