Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer

Pancreatic cancer is the fourth leading cause of cancer death in the developed world. Both inherited high-penetrance mutations in BRCA2 (ref. 2), ATM, PALB2 (ref. 4), BRCA1 (ref. 5), STK11 (ref. 6), CDKN2A and mismatch-repair genes and low-penetrance loci are associated with increased risk. To identify new risk loci, we performed a genome-wide association study on 9,925 pancreatic cancer cases and 11,569 controls, including 4,164 newly genotyped cases and 3,792 controls in 9 studies from North America, Central Europe and Australia. We identified three newly associated regions: 17q25.1 (LINC00673, rs11655237, odds ratio (OR) = 1.26, 95% confidence interval (CI) = 1.19-1.34, P = 1.42 × 10-14), 7p13 (SUGCT, rs17688601, OR = 0.88, 95% CI = 0.84-0.92, P = 1.41 × 10-8) and 3q29 (TP63, rs9854771, OR = 0.89, 95% CI = 0.85-0.93, P = 2.35 × 10-8). We detected significant association at 2p13.3 (ETAA1, rs1486134, OR = 1.14, 95% CI = 1.09-1.19, P = 3.36 × 10-9), a region with previous suggestive evidence in Han Chinese. We replicated previously reported associations at 9q34.2 (ABO), 13q22.1 (KLF5), 5p15.33 (TERT and CLPTM1), 13q12.2 (PDX1), 1q32.1 (NR5A2), 7q32.3 (LINC-PINT), 16q23.1 (BCAR1) and 22q12.1 (ZNRF3). Our study identifies new loci associated with pancreatic cancer risk

‘What Brings Him Here Today?’: Medical Problem Presentation Involving Children with Autism Spectrum Disorders and Typically Developing Children

Conversation and discourse analyses were used to examine medical problem presentation in pediatric care. Healthcare visits involving children with ASD and typically developing children were analyzed. We examined how children’s communicative and epistemic capabilities and their opportunities to be socialized into a competent patient role are interactionally achieved. We found that medical problem presentation is designed to contain a ‘pre-visit’ account of the interactional and epistemic work that children and caregivers carry out at home to identify the child’s health problems; and that the intersubjective accessibility of children’s experiences that becomes disrupted by ASD presents a dilemma to all participants in the visit. The article examines interactional roots of unmet healthcare needs and foregone medical care of people with ASD