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Gene panel testing for breast cancer susceptibility has become relatively cheap and accessible. However, the breast cancer risks associated with mutations in many genes included in these panels are unknown.We performed custom-designed targeted sequencing covering the coding exons of 17 known and putative breast cancer susceptibility genes in 660 non-BRCA1/2 women with familial breast cancer. Putative deleterious mutations were genotyped in relevant family members to assess co-segregation of each variant with disease. We used maximum likelihood models to estimate the breast cancer risks associated with mutations in each of the genes.We found 31 putative deleterious mutations in 7 known breast cancer susceptibility genes (TP53, PALB2, ATM, CHEK2, CDH1, PTEN and STK11) in 45 cases, and 22 potential deleterious mutations in 31 cases in 8 other genes (BARD1, BRIP1, MRE11, NBN, RAD50, RAD51C, RAD51D and CDK4). The relevant variants were then genotyped in 558 family members. Assuming a constant relative risk of breast cancer across age groups, only variants in CDH1, CHEK2, PALB2 and TP53 showed evidence of a significantly increased risk of breast cancer, with some supportive evidence that mutations in ATM confer moderate risk.Panel testing for these breast cancer families provided additional relevant clinical information for2% of families. We demonstrated that segregation analysis has some potential to help estimate the breast cancer risks associated with mutations in breast cancer susceptibility genes, but very large case-control sequencing studies and/or larger family-based studies will be needed to define the risks more accurately.

IntroductionThe inclusion of leadership within the General Medical Council Outcomes has encouraged UK medical schools to incorporate leadership into curricula, although it is often delivered in classroom environments. In order to illustrate to our clinical students that leadership skills are useful irrespective of positional authority, the University of Buckingham Medical School has developed a week-long programme illustrating the impact that junior and trainee doctors can have on the National Health Service environment (in a week).MethodsStudents received lectures on leadership principles and conducted focus groups and 1 min interviews to assess the values at Milton Keynes University Hospital (MKUH). Students collated the responses, and all MKUH staff, including the executive board, were invited to hear the feedback.Findings and conclusionsThe students concluded that a review of the hospital’s values was required and the executive board committed to a review which has been completed, with the values redefined and reworded. At the end of the week, 92.3% of students felt their perspective had been broadened and some reported feeling empowered by the impact that a weeks’ work could achieve. This short course has illustrated that an active approach to leadership can demonstrate to students that leadership is not just for those in positions of responsibility and change can be achieved by anyone with ambition.

Acute pancreatitis is a common and potentially fatal condition, with several well-known causes including gallstones, excessive alcohol consumption and specific medications. We report a case of an 89-year-old man presenting with acute pancreatitis, which we believe to be secondary to a diaphragmatic herniation of the pancreas. This extremely rare anatomical abnormality can be found incidentally in the asymptomatic patient or may present with a variety of acute symptoms. However, there have been only isolated reports of these cases presenting as acute pancreatitis. While the majority of acute pancreatitis cases can be explained by common causes, it is important that clinicians be aware of and should consider investigating for other more unusual possibilities, such as pancreatic herniation, before labelling an episode as ‘idiopathic’.

As part of the Department of Health initiative – £30 million funding for children9s palliative care in 2010/11, Children9s Hospices UK successfully submitted a proposal with Help the Hospices relating to Care Quality Commission (CQC) registration and compliance with the statutory Essential Standards of Quality and Safety. The project ran between December 2010 and March 2011 developing guidance and best practice examples for hospice services in England. The project assisted children9s and adult hospice services by providing information to: ▶Inform future development and planning of services to ensure best practice ▶Identify current services and gaps in current compliance ▶Work with our partner ‘Help the Hospices’ to share project outputs and support the transition agenda between children9s and adult services. The project required a mixed methodology to ensure effective delivery of the project objectives. Methodologies employed included an online questionnaire, stakeholder visits and interviews, delivery of three educational workshops, academic review of compliance techniques and partnership working with stakeholders to complete exemplar compliance assessments. The project enabled a number of outputs and analysis and these were shared with member organisations via the extranet services of both Children9s Hospices UK and Help the Hospices. Outputs included : ▶Establishment of information relating to registered activities across hospice services ▶Provision of educational workshops led by the CQC in relation to compliance, inspection and the Judgement Framework ▶The development of a ‘Compliance Toolkit’ providing information and advice relating to meeting the Essential Standards including exemplar compliance assessments ▶Partnership with ‘Help the Hospices’ to further improve transition for life limited young people by understanding the population of children and young people with palliative care needs who will be moving to adult services. The presentation will focus on some of the learning from this joint venture and consider next steps.