Entity

Time filter

Source Type

Leeds, United Kingdom

Lim J.N.W.,University of Leeds | Hewison J.,University of Leeds | Chu C.E.,Yorkshire Regional Genetic Service | Al-Habsi H.,Sultan Qaboos University
Journal of Community Genetics | Year: 2011

Patient self-initiated consultations to discuss family history of cancer in primary care and the factors leading to these consultations have not been investigated. Seventy-one out of 150 asymptomatic patients with a family history of cancer at the Yorkshire Cancer Genetics Service participated in this study. A semi-structured questionnaire was administered. The results show that (1) family cancer events, doctors' advice and reaching the age of cancer-affected relatives were more salient in raising awareness of the added cancer risk due to family history than media and publicity, and knowledge of the genetics services; (2) knowledge of family medical history and its clinical value is not easy to ascertain; (3) the interrelationships with other causal beliefs are of interest and could provide insights to understand the factors motivating patients to discuss family history or cancer risk; (4) the belief that 'cancer runs in the family' or is 'a family thing' may not be sufficient to heighten perceived cancer risk and motivate patients to seek medical advice; and (5) understanding of the medical concept and clinical value of family history is poor even in this group of patients who initiated the GP consultations. In conclusion, because most primary care practitioners are likely to rely on patient initiated discussion to identify individuals at an increased risk of cancer because of their family history, these findings are therefore important to help doctors and health providers understand the reasons influencing asymptomatic patients to self-refer themselves in primary care and discuss cancer risk in order to provide appropriate care. © Springer-Verlag 2010. Source


Karbani G.,Yorkshire Regional Genetic Service | Lim J.N.W.,University of Leeds | Hewison J.,University of Leeds | Atkin K.,University of York | And 3 more authors.
Asian Pacific Journal of Cancer Prevention | Year: 2011

Background: Little is known about the influence of culture and beliefs about breast cancer, and its implications on preventive health behaviour among South Asian people in the UK. Methods: Using a qualitative approach, 24 South Asian breast cancer patients and their significant others were interviewed. Results: Most patients were unfamiliar with the subject of cancer; they expressed lack of knowledge of cancer as a disease and its symptoms. They identified a painless lump in the breast as sign of abnormality, but not cancer. They also did not know any non-lump breast symptoms. Over half participated in breast screening after encouragement from daughters or relatives. Most did not practise breast self-examination. Perceptions of cancer and health behaviour were influenced by cultural beliefs. Common themes were cancer is a taboo subject and cancer is a stigma. Patients also expressed misunderstandings about the cause of cancer. Cancer in the family had ramifications on children's marriage prospects and may cause marital breakdown. Terminology used also caused communication problems with healthcare professionals and within the family: the use of 'chest' to substitute 'breast' changed the meaning of the message conveyed. Conclusions: Cultural beliefs and practices accentuate difficulties in understanding breast cancer, breast screening and breast self-examination, and can prevent South Asian women from adopting preventive health practices. Source


Bode A.,University of Queensland | Wood S.-E.,Institute of Life science | Mullins J.G.L.,Institute of Life science | Keramidas A.,University of Queensland | And 38 more authors.
Journal of Biological Chemistry | Year: 2013

Background: Hyperekplexia mutations have provided much information about glycine receptor structure and function. Results: Weidentified and characterized nine new mutations. Dominant mutations resulted in spontaneous activation, whereas recessive mutations precluded surface expression. Conclusion: These data provide insight into glycine receptor activation mechanisms and surface expression determinants. Significance: The results enhance our understanding of hyperekplexia pathology and glycine receptor structure-function. © 2013 by The American Society for Biochemistry and Molecular Biology, Inc. Published in the U.S.A. © 2013 by The American Society for Biochemistry and Molecular Biology, Inc. Source


Banka S.,University of Manchester | Veeramachaneni R.,University of Manchester | Reardon W.,National Center for Medical Genetics | Howard E.,University of Manchester | And 49 more authors.
European Journal of Human Genetics | Year: 2012

MLL2 mutations are detected in 55 to 80% of patients with Kabuki syndrome (KS). In 20 to 45% patients with KS, the genetic basis remains unknown, suggesting possible genetic heterogeneity. Here, we present the largest yet reported cohort of 116 patients with KS. We identified MLL2 variants in 74 patients, of which 47 are novel and a majority are truncating. We show that pathogenic missense mutations were commonly located in exon 48. We undertook a systematic facial KS morphology study of patients with KS at our regional dysmorphology meeting. Our data suggest that nearly all patients with typical KS facial features have pathogenic MLL2 mutations, although KS can be phenotypically variable. Furthermore, we show that MLL2 mutation-positive KS patients are more likely to have feeding problems, kidney anomalies, early breast bud development, joint dislocations and palatal malformations in comparison with MLL2 mutation-negative patients. Our work expands the mutation spectrum of MLL2 that may help in better understanding of this molecule, which is important in gene expression, epigenetic control of active chromatin states, embryonic development and cancer. Our analyses of the phenotype indicates that MLL2 mutation-positive and -negative patients differ systematically, and genetic heterogeneity of KS is not as extensive as previously suggested. Moreover, phenotypic variability of KS suggests that MLL2 testing should be considered even in atypical patients. © 2012 Macmillan Publishers Limited All rights reserved. Source

Discover hidden collaborations