Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-years medical genetics service to French FAP patients
Overview & Synopsis
Heterozygous APC germline alteration is responsible for familial adenomatous Polyposis, a colon cancer predisposition with almost complete penetrance. Point mutations generally lead to truncated proteins or no protein at all. They mainly involve exon 3 to codon 1700. The work presented here precisely delineates the APC mutation spectrum through a systematic molecular screening that identified 863 independent alterations in the French population.
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Document Information
| Document Title | Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-years medical genetics service to French FAP patients |
|---|---|
| Author / Organization | Arnaud Lagarde, Etienne Rouleau, Anthony Ferrari, Tetsuro Noguchi, Jinghua Qiu, Adrien Briaux, Violaine Bourdon, Virginie Rémy, Pascaline Gaildrat, José Adelaïde, Daniel Birnbaum, Rosette Lidereau, Hagay Sobol, Sylviane Olschwang |
| Subject & Discipline | Multidisciplinary Academic Open Research |
| Categories | Science & Mathematics |
| Publication Year | 2010 |
| License / Rights | Open Access / Creative Commons |
| Resource Verification | Listed PDF (Verification Pending) |
| Original Host Website |
HAL Open Science
(hal.science)
|
| File Format | application/pdf (Portable Document Format) |
| Language | EN |
| Catalog ID | DOC-210357 |
| Original Source Link | Visit Source Page on hal.science » |