Title |
Little evidence for association between the TGFBR1*6A variant and colorectal cancer: a family-based association study on non-syndromic family members from Australia and Spain
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Published in |
BMC Cancer, July 2014
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DOI | 10.1186/1471-2407-14-475 |
Pubmed ID | |
Authors |
Jason P Ross, Linda J Lockett, Bruce Tabor, Ian W Saunders, Graeme P Young, Finlay Macrae, Ignacio Blanco, Gabriel Capella, Glenn S Brown, Trevor J Lockett, Garry N Hannan |
Abstract |
Genome-wide linkage studies have identified the 9q22 chromosomal region as linked with colorectal cancer (CRC) predisposition. A candidate gene in this region is transforming growth factor β receptor 1 (TGFBR1). Investigation of TGFBR1 has focused on the common genetic variant rs11466445, a short exonic deletion of nine base pairs which results in truncation of a stretch of nine alanine residues to six alanine residues in the gene product. While the six alanine (*6A) allele has been reported to be associated with increased risk of CRC in some population based study groups this association remains the subject of robust debate. To date, reports have been limited to population-based case-control association studies, or case-control studies of CRC families selecting one affected individual per family. No study has yet taken advantage of all the genetic information provided by multiplex CRC families. |
X Demographics
Geographical breakdown
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Unknown | 2 | 100% |
Demographic breakdown
Type | Count | As % |
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Practitioners (doctors, other healthcare professionals) | 1 | 50% |
Scientists | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | 5% |
Unknown | 21 | 95% |
Demographic breakdown
Readers by professional status | Count | As % |
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Unspecified | 4 | 18% |
Student > Master | 3 | 14% |
Researcher | 3 | 14% |
Student > Ph. D. Student | 3 | 14% |
Other | 1 | 5% |
Other | 4 | 18% |
Unknown | 4 | 18% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 7 | 32% |
Unspecified | 4 | 18% |
Biochemistry, Genetics and Molecular Biology | 4 | 18% |
Psychology | 2 | 9% |
Mathematics | 1 | 5% |
Other | 0 | 0% |
Unknown | 4 | 18% |