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Prevalence of the CHEK2 R95* germline mutation

Overview of attention for article published in Hereditary Cancer in Clinical Practice, September 2016
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Title
Prevalence of the CHEK2 R95* germline mutation
Published in
Hereditary Cancer in Clinical Practice, September 2016
DOI 10.1186/s13053-016-0059-0
Pubmed ID
Authors

Stian Knappskog, Beryl Leirvaag, Liv B. Gansmo, Pål Romundstad, Kristian Hveem, Lars Vatten, Per E. Lønning

Abstract

While germline CHEK2 mutations have been linked to a moderately elevated cancer risk, to date, a limited number of such mutations have been identified. Recently, we reported a germline nonsense mutation (C283T; R95*), introducing an early stop-codon, in two Norwegian patients diagnosed with locally advanced breast cancer. Both patients were resistant to anthracycline therapy, resembling what has been observed for TP53 mutations. In the present study, we screened a large population based sample, including 3748 non-cancer individuals and 7081 incident cancer cases (breast cancer, n = 1717; prostate cancer n = 2501, lung cancer n = 1331 and colorectal cancer n = 1532), for the distribution of CHEK2 R95*. We found that 12 individuals (0.11 %) carried the R95* variant: 4 non-cancer individuals (0.11 %), 4 breast cancer cases (0.23 %), and 4 prostate cancer cases (0.16 %). Although the low number of observations precluded formal statistical assessment, our data may indicate an elevated risk for breast (OR: 2.19, 95 % CI: 0.55-8.75) and prostate cancer (OR: 1.5, 95 % CI: 0.36-6.00) associated with CHEK2 R95*. By mining international databanks, we found no individuals carrying the R95* mutation, indicating it to be restricted to the Norwegian population. We provide proof-of-concept that previously unknown CHEK2 germline mutations may be present in certain populations. Notably, germline mutations in tumours are in general missed by contemporary massive parallel sequencing strategies, since tumour mutations are usually filtered against the germline. The fact that the CHEK2 R95* mutation may be associated with resistance to anthracyclines in cancer patients emphasizes its possible clinical importance.

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Mendeley readers

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The data shown below were compiled from readership statistics for 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 14 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 29%
Librarian 1 7%
Student > Bachelor 1 7%
Other 1 7%
Student > Master 1 7%
Other 1 7%
Unknown 5 36%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 2 14%
Engineering 2 14%
Medicine and Dentistry 2 14%
Nursing and Health Professions 1 7%
Business, Management and Accounting 1 7%
Other 1 7%
Unknown 5 36%
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 27 September 2016.
All research outputs
#22,759,802
of 25,374,917 outputs
Outputs from Hereditary Cancer in Clinical Practice
#215
of 260 outputs
Outputs of similar age
#290,875
of 330,837 outputs
Outputs of similar age from Hereditary Cancer in Clinical Practice
#4
of 4 outputs
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So far Altmetric has tracked 260 research outputs from this source. They receive a mean Attention Score of 4.8. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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