| Title |
Gonadal mosaicism and familial adenomatous polyposis
|
|---|---|
| Published in |
Familial Cancer, November 2007
|
| DOI | 10.1007/s10689-007-9169-1 |
| Pubmed ID | |
| Authors |
Angela L. Schwab, Thérèse M. F. Tuohy, Michelle Condie, Deborah W. Neklason, Randall W. Burt |
| Abstract |
De novo mutations in the adenomatous polyposis coli (APC) gene are estimated to constitute approximately 25% of familial adenomatous polyposis (FAP) cases. A small percentage of these arise in the mosaic form, affecting only a subset of cells in the affected individual. A family is described here whereby an unaffected mother with no detectible mutation in APC, transmitted the identical APC c.4729G>T (p.Glu1577X) mutation to two children. A third child, with the same APC allelic haplotype received a normal APC allele, suggesting that the mutation originated in the gonadal tissues of the mother. These results underscore the utility of mutation-specific genetic testing for the parents and siblings of a proband of an adult-onset disease, even if the proband appears to have a de novo mutation. Parents who test negative for the mutation should be counseled about the possibility of having another affected child due to gonadal mosaicism. |
Mendeley readers
The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 23 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 4 | 17% |
| Student > Doctoral Student | 3 | 13% |
| Researcher | 3 | 13% |
| Professor > Associate Professor | 2 | 9% |
| Student > Master | 2 | 9% |
| Other | 4 | 17% |
| Unknown | 5 | 22% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 7 | 30% |
| Biochemistry, Genetics and Molecular Biology | 5 | 22% |
| Agricultural and Biological Sciences | 3 | 13% |
| Unspecified | 1 | 4% |
| Unknown | 7 | 30% |
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 26 January 2011.
All research outputs
#7,452,489
of 22,783,848 outputs
Outputs from Familial Cancer
#166
of 558 outputs
Outputs of similar age
#40,981
of 155,982 outputs
Outputs of similar age from Familial Cancer
#1
of 5 outputs
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