Abstract
Familial adenomatous polyposis (FAP) and attenuated FAP are autosomal dominant disorders characterised by multiple colorectal adenomas and cancers. Both are caused by inherited mutations in the APC gene, and management includes genetic testing, colonoscopic surveillance, and prophylactic surgery for the relatives of index cases. Among 614 families recorded in six regional registers of polyposis in the UK, we identified 111 with neither dominant transmission nor evidence of APC mutation. Molecular genetic analysis showed that 25 had biallelic mutations of the MYH gene. Since our data show that MYH polyposis can be transmitted as an autosomal recessive trait, a change in genetic counselling, testing, and surveillance is needed.
| Original language | English |
|---|---|
| Pages (from-to) | 39-41 |
| Number of pages | 3 |
| Journal | The Lancet |
| Volume | 362 |
| Issue number | 9377 |
| DOIs | |
| Publication status | Published - 5 Jul 2003 |
Funding
We thank the many clinical and laboratory staff whose activities support the regional polyposis registers. This work was funded through research grants from the Wales Office of Research and Development and the Gastrointestinal Research Fund (to SD), and supported by the Wales Gene Park (with funding from NHS Wales, the DTI, and the Knowledge Exploitation Fund, ELWa). The sponsors of the study had no role in study design, data collection, data analysis, data interpretation, or writing of the report.
Keywords
- Adenomatous Polyposis Coli/epidemiology
- Adolescent
- Adult
- Aged
- DNA Glycosylases
- Female
- Genes, Recessive
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- N-Glycosyl Hydrolases/genetics
- Registries
- United Kingdom/epidemiology
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