• Ten-Year Results of FAST: A Randomized Controlled Trial of 5-Fraction Whole-Breast Radiotherapy for Early Breast Cancer 

  Goodman, Andrew (Atypon, 2020-10-01)

  Purpose: Previous studies of hypofractionated adjuvant whole-breast radiotherapy for early breast cancer established a 15- or 16-fraction (fr) regimen as standard. The FAST Trial (CRUKE/04/015) evaluated normal tissue ...

• A Novel HNF4A Mutation Causing Three Phenotypic Forms of Glucose Dysregulation in a Family 

  Flanagan, Sarah (Frontiers Media SA, 2020-06-26)

  Maturity-onset diabetes of the young (MODY) classically describes dominantly inherited forms of monogenic diabetes diagnosed before 25 years of age due to pancreatic β-cell dysfunction. In contrast, mutations in certain ...

• Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene 

  Rankin, Julia (Wolters Kluwer Health, Inc., 2020-06-10)

  Objective: To report a series of patients with cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma (CBL) gene and examine the functional role of the identified mutant Cbl protein. ...

• British Gynaecological Cancer Society (BGCS) vulval cancer guidelines: Recommendations for practice 

  Edey, Katharine A. (Elsevier Science, 2020-09)

  The purpose of this guideline is to collate evidence and propose evidence-based guidelines for the diagnosis and management of adult patients with vulva carcinoma treated in the UK. Malignant melanoma may present via similar ...

• Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism 

  Houghton, Jayne A. L. (Wiley, 2020-04-23)

  Advances in genomics and 18F-DOPA PET-CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved ...

• Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants 

  Brewer, Carole (Nature Publishing Group, 2020-10)

  Purpose: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2 pathogenic variant carriers. Methods: ...

• Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy 

  Robinson, H. K.; Mallin, L.; Mabin, David C.; Turner, Claire L.; Ellard, Sian (Wiley, 2020-07-15)

  Childhood dilated cardiomyopathy (DCM) is a leading cause of heart failure requiring cardiac transplantation and approximately 5% of cases result in sudden death. Knowledge of the underlying genetic cause can aid prognostication ...

• Randomized clinical trial of DTaP5-HB-IPV-Hib vaccine administered concomitantly with meningococcal serogroup C conjugate vaccines during the primary infant series 

  Tomlinson, Richard (Elsevier Science, 2020-07-31)

  Background: Concomitant administration of vaccines simplifies delivery. DTaP5-HB-IPV-Hib is a fully liquid, combination vaccine against 6 diseases. This study evaluated the compatibility of DTaP5-HB-IPV-Hib with 2 different ...

• Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis 

  Childs, Alexandra J.; Mabin, David C.; Turnpenny, Peter D. (Wiley, 2020-08)

  We present the case of a male who shortly after birth developed acute respiratory distress due to bilateral choanal atresia, following which he was found to have rectal stenosis. Genetic testing for CHARGE syndrome was ...

• Parental experiences of a diagnosis of neonatal diabetes and perceptions of newborn screening for glucose: a qualitative study 

  Shepherd, Maggie; Knight, Bridget A.; Laskey, Katherine; McDonald, Timothy J. (HighWire, 2020-11-04)

  Neonatal diabetes presents <6 months of life but delays in recognition result in presentation with life-threatening hyperglycaemia/diabetic ketoacidosis. Early identification and rapid genetic diagnosis is crucial and ...

• Cathepsin D in the Tumor Microenvironment of Breast and Ovarian Cancers 

  Whatmore, J. L. (Springer, 2020)

  Cancer remains a major and leading health problem worldwide. Lack of early diagnosis, chemoresistance, and recurrence of cancer means vast research and development are required in this area. The complexity of the tumor ...

• Variations in diabetes transition care for children and young people: a national survey 

  Moudiotis, Christopher (Wiley, 2020-08)

• UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants 

  Gibson, Sarah (BMJ, 2020-06-22)

  Constitutional pathogenic variants in TP53 are associated with Li-Fraumeni syndrome or the more recently described heritable TP53-related cancer syndrome and are associated with increased lifetime risks of a wide spectrum ...

• Point prevalence of penicillin allergy in hospital inpatients 

  Baxter, M.; Powell, R.; Morgan, M. (Elsevier Science, 2020-09)

  Ten percent of the general population believe themselves to be allergic to beta-lactams, many erroneously. Alternative, broader-spectrum antibiotics are associated with increased drug costs and colonization with resistant ...

• Predicting and elucidating the etiology of fatty liver disease: A machine learning modeling and validation study in the IMI DIRECT cohorts 

  Jones, Angus G.; McDonald, Timothy J.; Hattersley, Andrew T. (Public Library of Science, 2020-06-19)

  Background: Non-alcoholic fatty liver disease (NAFLD) is highly prevalent and causes serious health complications in individuals with and without type 2 diabetes (T2D). Early diagnosis of NAFLD is important, as this can ...

• Prostate Cancer Risk by BRCA2 Genomic Regions 

  Brewer, Carole (Elsevier Science, 2020-10)

  A BRCA2 prostate cancer cluster region (PCCR) was recently proposed (c.7914 to 3') wherein pathogenic variants (PVs) are associated with higher prostate cancer (PCa) risk than PVs elsewhere in the BRCA2 gene. Using a ...

• First-in-human study of the PARP/tankyrase inhibitor E7449 in patients with advanced solid tumours and evaluation of a novel drug-response predictor 

  Stephens, Peter (Nature Publishing Group, 2020-08)

  Background: This phase 1 study examined the safety, maximum-tolerated dose (MTD) and antitumour activity of E7449, a novel PARP 1/2 and tankyrase 1/2 inhibitor. Methods: E7449 was orally administered once daily in 28-day ...

• Clinical features and genetic risk of demyelination following anti-TNF treatment 

  Lin, Simeng; Hendy, Peter; Heerasing, Neel; Chanchlani, Neil; Hamilton, Benjamin; Walker, Gareth J.; Ahmad, Tariq; Heap, Graham A.; Wood, A. R.; Tyrrell, Jessica; Beaumont, Robin N.; Weedon, M. N.; Kennedy, Nicholas A.; Harrower, Timothy; Goodhand, James R. (Silverchair Information Systems, 2020-06-04)

  Background: Anti-TNF exposure has been linked to demyelination events. We sought to describe the clinical features of demyelination events following anti-TNF treatment and test whether affected patients were genetically ...

• Child and adolescent mental health trajectories in relation to exclusion from school from the Avon Longitudinal Study of Parents and Children 

  Henley, W.; Logan, Stuart (Wiley, 2020-11)

  Background: As the prevalence of childhood mental health conditions varies by age and gender, we explored whether there were similar variations in the relationship between psychopathology and exclusion from school in a ...

• Hypofractionated breast radiotherapy for 1 week versus 3 weeks (FAST-Forward): 5-year efficacy and late normal tissue effects results from a multicentre, non-inferiority, randomised, phase 3 trial 

  Goodman, Andrew (Elsevier Science, 2020-05-23)

  Background: We aimed to identify a five-fraction schedule of adjuvant radiotherapy (radiation therapy) delivered in 1 week that is non-inferior in terms of local cancer control and is as safe as an international standard ...

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