Title |
Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome
|
---|---|
Published in |
PLOS ONE, June 2013
|
DOI | 10.1371/journal.pone.0066705 |
Pubmed ID | |
Authors |
Mark Clendenning, Joanne P. Young, Michael D. Walsh, Sonja Woodall, Julie Arnold, Mark Jenkins, Aung Ko Win, John L. Hopper, Kevin Sweet, Steven Gallinger, Christophe Rosty, Susan Parry, Daniel D. Buchanan |
Abstract |
Recent reports have observed that individuals with serrated polyps, some of whom meet the clinical diagnostic criteria for Serrated Polyposis Syndrome (SPS), are among those who carry germline mutations in genes associated with polyposis syndromes including; (1) genes known to underlie hamartomatous polyposes (SMAD4, BMPR1A, and PTEN), (2) MUTYH-associated polyposis and (3) GREM1 in Hereditary Mixed Polyposis Syndrome (HMPS). The aim of this study was to characterise individuals fulfilling the current WHO criteria for SPS for germline mutations in these polyposis-associated genes. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 33% |
Unknown | 2 | 67% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 67% |
Practitioners (doctors, other healthcare professionals) | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 39 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 7 | 18% |
Student > Ph. D. Student | 6 | 15% |
Student > Doctoral Student | 5 | 13% |
Student > Postgraduate | 5 | 13% |
Student > Bachelor | 2 | 5% |
Other | 6 | 15% |
Unknown | 8 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 9 | 23% |
Medicine and Dentistry | 9 | 23% |
Agricultural and Biological Sciences | 8 | 21% |
Nursing and Health Professions | 2 | 5% |
Chemistry | 1 | 3% |
Other | 0 | 0% |
Unknown | 10 | 26% |