| Title |
Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?
|
|---|---|
| Published in |
Human Genetics, August 2008
|
| DOI | 10.1007/s00439-008-0542-4 |
| Pubmed ID | |
| Authors |
Katharina Wimmer, Julia Etzler |
| Abstract |
Heterozygous mutations in one of the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause the dominant adult cancer syndrome termed Lynch syndrome or hereditary non-polyposis colorectal cancer. During the past 10 years, some 35 reports have delineated the phenotype of patients with biallelic inheritance of mutations in one of these MMR genes. The patients suffer from a condition that is characterised by the development of childhood cancers, mainly haematological malignancies and/or brain tumours, as well as early-onset colorectal cancers. Almost all patients also show signs reminiscent of neurofibromatosis type 1, mainly café au lait spots. Alluding to the underlying mechanism, this condition may be termed as "constitutional mismatch repair-deficiency (CMMR-D) syndrome". To give an overview of the current knowledge and its implications of this recessively inherited cancer syndrome we summarise here the genetic, clinical and pathological findings of the so far 78 reported patients of 46 families suffering from this syndrome. |
Mendeley readers
The data shown below were compiled from readership statistics for 131 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 2 | 2% |
| Japan | 1 | <1% |
| United States | 1 | <1% |
| Belgium | 1 | <1% |
| Unknown | 126 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 19 | 15% |
| Student > Master | 18 | 14% |
| Student > Ph. D. Student | 17 | 13% |
| Student > Bachelor | 16 | 12% |
| Professor > Associate Professor | 10 | 8% |
| Other | 32 | 24% |
| Unknown | 19 | 15% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 57 | 44% |
| Agricultural and Biological Sciences | 29 | 22% |
| Biochemistry, Genetics and Molecular Biology | 18 | 14% |
| Computer Science | 3 | 2% |
| Nursing and Health Professions | 1 | <1% |
| Other | 5 | 4% |
| Unknown | 18 | 14% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 08 November 2009.
All research outputs
#8,882,501
of 25,837,817 outputs
Outputs from Human Genetics
#1,082
of 3,050 outputs
Outputs of similar age
#35,497
of 96,797 outputs
Outputs of similar age from Human Genetics
#10
of 17 outputs
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