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Systematic search for rare variants in Finnish early-onset colorectal cancer patients

Overview of attention for article published in Cancer Genetics, December 2014
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  • Above-average Attention Score compared to outputs of the same age and source (57th percentile)

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Title
Systematic search for rare variants in Finnish early-onset colorectal cancer patients
Published in
Cancer Genetics, December 2014
DOI 10.1016/j.cancergen.2014.12.004
Pubmed ID
Authors

Tomas Tanskanen, Alexandra E. Gylfe, Riku Katainen, Minna Taipale, Laura Renkonen-Sinisalo, Heikki Järvinen, Jukka-Pekka Mecklin, Jan Böhm, Outi Kilpivaara, Esa Pitkänen, Kimmo Palin, Pia Vahteristo, Sari Tuupanen, Lauri A. Aaltonen

Abstract

The heritability of colorectal cancer (CRC) is incompletely understood, and the contribution of undiscovered rare variants may be important. In search of rare disease-causing variants, we exome sequenced 22 CRC patients who were diagnosed before the age of 40 years. Exome sequencing data from 95 familial CRC patients were available as a validation set. Cases with known CRC syndromes were excluded. All patients were from Finland, a country known for its genetically homogenous population. We searched for rare nonsynonymous variants with allele frequencies below 0.1% in 3,374 Finnish and 58,112 non-Finnish controls. In addition, homozygous and compound heterozygous variants were studied. No genes with rare loss-of-function variants were present in more than one early-onset CRC patient. Three genes (ADAMTS4, CYTL1, and SYNE1) harbored rare loss-of-function variants in both early-onset and familial CRC cases. Five genes with homozygous variants in early-onset CRC cases were found (MCTP2, ARHGAP12, ATM, DONSON, and ROS1), including one gene (MCTP2) with a homozygous splice site variant. All discovered homozygous variants were exclusive to one early-onset CRC case. Independent replication is required to associate the discovered variants with CRC. These findings, together with a lack of family history in 19 of 22 (86%) early-onset patients, suggest genetic heterogeneity in unexplained early-onset CRC patients, thus emphasizing the requirement for large sample sizes and careful study designs to elucidate the role of rare variants in CRC susceptibility.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 40 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Finland 1 3%
United States 1 3%
Unknown 38 95%

Demographic breakdown

Readers by professional status Count As %
Researcher 12 30%
Student > Ph. D. Student 7 18%
Student > Bachelor 4 10%
Student > Master 3 8%
Librarian 2 5%
Other 5 13%
Unknown 7 18%
Readers by discipline Count As %
Medicine and Dentistry 9 23%
Biochemistry, Genetics and Molecular Biology 8 20%
Agricultural and Biological Sciences 7 18%
Computer Science 2 5%
Nursing and Health Professions 1 3%
Other 4 10%
Unknown 9 23%
Attention Score in Context

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 18 March 2015.
All research outputs
#17,285,036
of 25,371,288 outputs
Outputs from Cancer Genetics
#861
of 1,174 outputs
Outputs of similar age
#219,934
of 359,091 outputs
Outputs of similar age from Cancer Genetics
#6
of 14 outputs
Altmetric has tracked 25,371,288 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,174 research outputs from this source. They receive a mean Attention Score of 3.2. This one is in the 20th percentile – i.e., 20% of its peers scored the same or lower than it.
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 359,091 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 29th percentile – i.e., 29% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 14 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 57% of its contemporaries.