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Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)

Overview of attention for article published in Journal of Medical Genetics, February 2014
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (82nd percentile)
  • Above-average Attention Score compared to outputs of the same age and source (60th percentile)

Mentioned by

twitter
7 tweeters
patent
1 patent

Citations

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142 Dimensions

Readers on

mendeley
119 Mendeley
Title
Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)
Published in
Journal of Medical Genetics, February 2014
DOI 10.1136/jmedgenet-2013-102238
Pubmed ID
Authors

H F A Vasen, Z Ghorbanoghli, F Bourdeaut, O Cabaret, O Caron, A Duval, N Entz-Werle, Y Goldberg, D Ilencikova, C P Kratz, N Lavoine, J Loeffen, F H Menko, M Muleris, G Sebille, C Colas, B Burkhardt, L Brugieres, K Wimmer

Abstract

Lynch syndrome (LS) is an autosomal dominant disorder caused by a defect in one of the DNA mismatch repair genes: MLH1, MSH2, MSH6 and PMS2. In the last 15 years, an increasing number of patients have been described with biallelic mismatch repair gene mutations causing a syndrome referred to as 'constitutional mismatch repair-deficiency' (CMMR-D). The spectrum of cancers observed in this syndrome differs from that found in LS, as about half develop brain tumours, around half develop digestive tract cancers and a third develop haematological malignancies. Brain tumours and haematological malignancies are mainly diagnosed in the first decade of life, and colorectal cancer (CRC) and small bowel cancer in the second and third decades of life. Surveillance for CRC in patients with LS is very effective. Therefore, an important question is whether surveillance for the most common CMMR-D-associated cancers will also be effective. Recently, a new European consortium was established with the aim of improving care for patients with CMMR-D. At a workshop of this group held in Paris in June 2013, one of the issues addressed was the development of surveillance guidelines. In 1968, criteria were proposed by WHO that should be met prior to the implementation of screening programmes. These criteria were used to assess surveillance in CMMR-D. The evaluation showed that surveillance for CRC is the only part of the programme that largely complies with the WHO criteria. The values of all other suggested screening protocols are unknown. In particular, it is questionable whether surveillance for haematological malignancies improves the already favourable outcome for patients with these tumours. Based on the available knowledge and the discussions at the workshop, the European consortium proposed a surveillance protocol. Prospective collection of all results of the surveillance is needed to evaluate the effectiveness of the programme.

Twitter Demographics

The data shown below were collected from the profiles of 7 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 119 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 <1%
Japan 1 <1%
Greece 1 <1%
Unknown 116 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 28 24%
Student > Master 20 17%
Student > Ph. D. Student 14 12%
Other 10 8%
Student > Doctoral Student 8 7%
Other 30 25%
Unknown 9 8%
Readers by discipline Count As %
Medicine and Dentistry 61 51%
Biochemistry, Genetics and Molecular Biology 20 17%
Agricultural and Biological Sciences 16 13%
Nursing and Health Professions 3 3%
Pharmacology, Toxicology and Pharmaceutical Science 3 3%
Other 6 5%
Unknown 10 8%

Attention Score in Context

This research output has an Altmetric Attention Score of 8. 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 10 September 2020.
All research outputs
#2,925,706
of 17,188,187 outputs
Outputs from Journal of Medical Genetics
#696
of 2,475 outputs
Outputs of similar age
#34,453
of 197,849 outputs
Outputs of similar age from Journal of Medical Genetics
#10
of 25 outputs
Altmetric has tracked 17,188,187 research outputs across all sources so far. Compared to these this one has done well and is in the 82nd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,475 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.6. This one has gotten more attention than average, scoring higher than 71% 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 197,849 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 82% of its contemporaries.
We're also able to compare this research output to 25 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 60% of its contemporaries.