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Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

Overview of attention for article published in Nature Genetics, March 2014
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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 (91st percentile)
  • Average Attention Score compared to outputs of the same age and source

Mentioned by

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21 X users
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4 patents
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1 Google+ user

Citations

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283 Dimensions

Readers on

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216 Mendeley
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1 CiteULike
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Title
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma
Published in
Nature Genetics, March 2014
DOI 10.1038/ng.2941
Pubmed ID
Authors

Jianxin Shi, Xiaohong R Yang, Bari Ballew, Melissa Rotunno, Donato Calista, Maria Concetta Fargnoli, Paola Ghiorzo, Brigitte Bressac-de Paillerets, Eduardo Nagore, Marie Francoise Avril, Neil E Caporaso, Mary L McMaster, Michael Cullen, Zhaoming Wang, Xijun Zhang, William Bruno, Lorenza Pastorino, Paola Queirolo, Jose Banuls-Roca, Zaida Garcia-Casado, Amaury Vaysse, Hamida Mohamdi, Yasser Riazalhosseini, Mario Foglio, Fanélie Jouenne, Xing Hua, Paula L Hyland, Jinhu Yin, Haritha Vallabhaneni, Weihang Chai, Paola Minghetti, Cristina Pellegrini, Sarangan Ravichandran, Alexander Eggermont, Mark Lathrop, Ketty Peris, Giovanna Bianchi Scarra, Giorgio Landi, Sharon A Savage, Joshua N Sampson, Ji He, Meredith Yeager, Lynn R Goldin, Florence Demenais, Stephen J Chanock, Margaret A Tucker, Alisa M Goldstein, Yie Liu, Maria Teresa Landi

Abstract

Although CDKN2A is the most frequent high-risk melanoma susceptibility gene, the underlying genetic factors for most melanoma-prone families remain unknown. Using whole-exome sequencing, we identified a rare variant that arose as a founder mutation in the telomere shelterin gene POT1 (chromosome 7, g.124493086C>T; p.Ser270Asn) in five unrelated melanoma-prone families from Romagna, Italy. Carriers of this variant had increased telomere lengths and numbers of fragile telomeres, suggesting that this variant perturbs telomere maintenance. Two additional rare POT1 variants were identified in all cases sequenced in two separate Italian families, one variant per family, yielding a frequency for POT1 variants comparable to that for CDKN2A mutations in this population. These variants were not found in public databases or in 2,038 genotyped Italian controls. We also identified two rare recurrent POT1 variants in US and French familial melanoma cases. Our findings suggest that POT1 is a major susceptibility gene for familial melanoma in several populations.

X Demographics

X Demographics

The data shown below were collected from the profiles of 21 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 216 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 <1%
Korea, Republic of 1 <1%
United States 1 <1%
Portugal 1 <1%
Unknown 212 98%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 46 21%
Researcher 46 21%
Student > Master 20 9%
Student > Doctoral Student 14 6%
Other 13 6%
Other 35 16%
Unknown 42 19%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 55 25%
Agricultural and Biological Sciences 54 25%
Medicine and Dentistry 38 18%
Computer Science 3 1%
Immunology and Microbiology 2 <1%
Other 12 6%
Unknown 52 24%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 18. 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 21 December 2022.
All research outputs
#1,775,779
of 23,392,375 outputs
Outputs from Nature Genetics
#2,464
of 7,267 outputs
Outputs of similar age
#18,742
of 226,774 outputs
Outputs of similar age from Nature Genetics
#41
of 72 outputs
Altmetric has tracked 23,392,375 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,267 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 41.7. This one has gotten more attention than average, scoring higher than 66% 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 226,774 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 91% of its contemporaries.
We're also able to compare this research output to 72 others from the same source and published within six weeks on either side of this one. This one is in the 43rd percentile – i.e., 43% of its contemporaries scored the same or lower than it.