| Title |
Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing
|
|---|---|
| Published in |
Familial Cancer, November 2014
|
| DOI | 10.1007/s10689-014-9765-9 |
| Pubmed ID | |
| Authors |
Ashton A. Connor, Hagit Katzov-Eckert, Thomas Whelan, Melyssa Aronson, Lynette Lau, Christian Marshall, George S. Charames, Aaron Pollett, Steven Gallinger, Jordan Lerner-Ellis |
| Abstract |
The identification of germline variants that predispose to cancer is important to further our understanding of tumorigenesis, guide patient management, prevent disease in unaffected relatives, and inform best practice for health care. We describe a kindred with multiple gastrointestinal malignancies where a novel MSH6 germline susceptibility variant was identified by exome sequencing after eluding serial routine testing in multiple affected members. This case fosters discussion of our current understanding of DNA mismatch repair deficiency, the management of Lynch Syndrome, and the emerging role of next generation sequencing in laboratory medicine to identify rare pathogenic germline variants in a comprehensive, unbiased fashion. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
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 % |
|---|---|---|
| Student > Ph. D. Student | 3 | 21% |
| Other | 2 | 14% |
| Student > Bachelor | 2 | 14% |
| Student > Doctoral Student | 1 | 7% |
| Student > Master | 1 | 7% |
| Other | 2 | 14% |
| Unknown | 3 | 21% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 5 | 36% |
| Agricultural and Biological Sciences | 3 | 21% |
| Medicine and Dentistry | 2 | 14% |
| Physics and Astronomy | 1 | 7% |
| Unknown | 3 | 21% |
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 09 November 2014.
All research outputs
#20,242,136
of 22,769,322 outputs
Outputs from Familial Cancer
#480
of 558 outputs
Outputs of similar age
#219,707
of 263,177 outputs
Outputs of similar age from Familial Cancer
#5
of 5 outputs
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