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Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum

Overview of attention for article published in Hereditary Cancer in Clinical Practice, February 2008
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Title
Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum
Published in
Hereditary Cancer in Clinical Practice, February 2008
DOI 10.1186/1897-4287-6-1-15
Pubmed ID
Authors

Stulp RP, Herkert JC, Karrenbeld A, Mol B, Vos YJ, Sijmons RH, Rein P Stulp, Johanna C Herkert, Arend Karrenbeld, Bart Mol, Yvonne J Vos, Rolf H Sijmons

Abstract

Lynch syndrome (HNPCC) is a dominantly inherited disorder characterized by germline defects in DNA mismatch repair (MMR) genes and the development of a variety of cancers, predominantly colorectal and endometrial. We present a 44-year-old woman who was shown to carry the truncating MSH2 gene mutation that had previously been identified in her family. Recently, she had been diagnosed with an undifferentiated carcinoma of the thyroid and an adenoma of her coecum. Although the thyroid carcinoma was not MSI-high (1 out of 5 microsatellites instable), it did show complete loss of immunohistochemical expression for the MSH2 protein, suggesting that this tumour was not coincidental. Although the risks for some tumour types, including breast cancer, soft tissue sarcoma and prostate cancer, are not significantly increased in Lynch syndrome, MMR deficiency in the presence of a corresponding germline defect has been demonstrated in incidental cases of a growing range of tumour types, which is reviewed in this paper. Interestingly, the MSH2-associated tumour spectrum appears to be wider than that of MLH1 and generally the risk for most extra-colonic cancers appears to be higher for MSH2 than for MLH1 mutation carriers. Together with a previously reported case, our findings show that anaplastic thyroid carcinoma can develop in the setting of Lynch syndrome. Uncommon Lynch syndrome-associated tumour types might be useful in the genetic analysis of a Lynch syndrome suspected family if samples from typical Lynch syndrome tumours are unavailable.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 18 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 22%
Other 3 17%
Professor > Associate Professor 2 11%
Student > Ph. D. Student 2 11%
Unspecified 1 6%
Other 4 22%
Unknown 2 11%
Readers by discipline Count As %
Medicine and Dentistry 12 67%
Agricultural and Biological Sciences 2 11%
Unspecified 1 6%
Unknown 3 17%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 28 March 2014.
All research outputs
#3,060,929
of 4,507,509 outputs
Outputs from Hereditary Cancer in Clinical Practice
#54
of 80 outputs
Outputs of similar age
#72,671
of 107,155 outputs
Outputs of similar age from Hereditary Cancer in Clinical Practice
#5
of 8 outputs
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So far Altmetric has tracked 80 research outputs from this source. They receive a mean Attention Score of 2.2. This one is in the 16th percentile – i.e., 16% of its peers scored the same or lower than it.
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