| Title |
Phenotypic and genotypic heterogeneity of Lynch syndrome: a complex diagnostic challenge
|
|---|---|
| Published in |
Familial Cancer, October 2017
|
| DOI | 10.1007/s10689-017-0053-3 |
| Pubmed ID | |
| Authors |
Henry T. Lynch, Stephen Lanspa, Trudy Shaw, Murray Joseph Casey, Marc Rendell, Mark Stacey, Theresa Townley, Carrie Snyder, Megan Hitchins, Joan Bailey-Wilson |
| Abstract |
Lynch syndrome is the hereditary disorder that most frequently predisposes to colorectal cancer as well as predisposing to a number of extracolonic cancers, most prominently endometrial cancer. It is caused by germline mutations in the mismatch repair genes. Both its phenotype and genotype show marked heterogeneity. This review gives a historical overview of the syndrome, its heterogeneity, its genomic landscape, and its implications for complex diagnosis, genetic counseling and putative implications for immunotherapy. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 2 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 50% |
| Members of the public | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 42 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 42 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 7 | 17% |
| Student > Master | 6 | 14% |
| Other | 5 | 12% |
| Student > Bachelor | 4 | 10% |
| Professor | 3 | 7% |
| Other | 3 | 7% |
| Unknown | 14 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 8 | 19% |
| Medicine and Dentistry | 7 | 17% |
| Nursing and Health Professions | 4 | 10% |
| Agricultural and Biological Sciences | 4 | 10% |
| Immunology and Microbiology | 1 | 2% |
| Other | 1 | 2% |
| Unknown | 17 | 40% |
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 02 December 2017.
All research outputs
#20,984,909
of 25,775,807 outputs
Outputs from Familial Cancer
#451
of 594 outputs
Outputs of similar age
#263,672
of 339,328 outputs
Outputs of similar age from Familial Cancer
#11
of 18 outputs
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