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Genetic variants in MUTYH are not associated with endometrial cancer risk

Overview of attention for article published in Hereditary Cancer in Clinical Practice, January 2009
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (85th percentile)
  • High Attention Score compared to outputs of the same age and source (92nd percentile)

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1 blog

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7 Mendeley
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Title
Genetic variants in MUTYH are not associated with endometrial cancer risk
Published in
Hereditary Cancer in Clinical Practice, January 2009
DOI 10.1186/1897-4287-7-3
Pubmed ID
Authors

Katie A Ashton, Anthony Proietto, Geoffrey Otton, Ian Symonds, Rodney J Scott, Ashton KA, Proietto A, Otton G, Symonds I, Scott RJ

Abstract

Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is an autosomal dominant inherited predisposition to a number of epithelial cancers, most notably colorectal and endometrial cancer. Outside of the context of Lynch syndrome there is little evidence for an autosomal dominant or recessive condition that predisposes to endometrial cancer. Recently, genetic variants in MUTYH have been associated with a recessive form of colorectal cancer, known as MUTYH associated polyposis or MAP. MUTYH is involved in base excision repair of DNA lesions and as such a breakdown in the fidelity of this process would necessarily not be predicted to result in a specific disease. At present there is little information about the role of MUTYH in other types of cancer and only one report indicating a possible relationship with endometrial cancer.Similar to a previous study, we investigated a series of endometrial cancer patients to determine if MUTYH variants were over-represented compared to a series of healthy control subjects and to assess whether or not endometrial cancer risk could be explained by an autosomal recessive model of inheritance.Two MUTYH mutations, Y165C and G382D, and three common MUTYH polymorphisms, V22M, Q324H and S501F, were genotyped in 213 endometrial cancer patients and 226 controls from Australia using real time PCR. Differences in genotype frequencies were compared using Chi-squared analysis and by calculating odds ratios and 95% confidence intervals.Three endometrial cancer patients were identified with heterozygous MUTYH mutations (two G382D and one Y165C). No bi-allelic mutation carriers were identified. Two of the three patients' clinical characteristics were similar to those commonly identified in HNPCC and lend support to the notion that MUTYH mutations increase the risk of developing HNPCC related diseases. There was no difference in the five genotype frequencies of the endometrial cancer patients compared to the controls. The results of our study suggest that MUTYH is unlikely to be involved in the genetic basis of endometrial cancer but a possible association of MUTYH variants with HNPCC related diseases cannot be excluded.

Mendeley readers

The data shown below were compiled from readership statistics for 7 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 7 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 2 29%
Researcher 2 29%
Professor > Associate Professor 1 14%
Student > Ph. D. Student 1 14%
Unspecified 1 14%
Other 0 0%
Readers by discipline Count As %
Medicine and Dentistry 3 43%
Biochemistry, Genetics and Molecular Biology 2 29%
Agricultural and Biological Sciences 1 14%
Unspecified 1 14%

Attention Score in Context

This research output has an Altmetric Attention Score of 7. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 26 January 2009.
All research outputs
#503,233
of 3,684,317 outputs
Outputs from Hereditary Cancer in Clinical Practice
#5
of 68 outputs
Outputs of similar age
#414,549
of 2,768,741 outputs
Outputs of similar age from Hereditary Cancer in Clinical Practice
#4
of 66 outputs
Altmetric has tracked 3,684,317 research outputs across all sources so far. Compared to these this one has done well and is in the 86th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 68 research outputs from this source. They receive a mean Attention Score of 2.1. This one has done particularly well, scoring higher than 91% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 2,768,741 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 85% of its contemporaries.
We're also able to compare this research output to 66 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 92% of its contemporaries.