Broad phenotypic spectrum in familial adenomatous polyposis
Author Information
Author(s): Nilbert Mef, Kristoffersson Ulf, Ericsson Mats, Johannsson Oskar, Rambech Eva, Mangell Peter
Primary Institution: Department of Oncology, Institute of Clinical Sciences, Lund University, Sweden
Hypothesis
What are the genotype-phenotype correlations in familial adenomatous polyposis (FAP) and its extracolonic manifestations?
Conclusion
The study identifies novel APC mutations and highlights the broad and variable tumor spectrum in familial adenomatous polyposis, emphasizing the need to consider attenuated FAP in elderly patients.
Supporting Evidence
- 10 novel APC gene mutations were identified in 11 families.
- A broad spectrum of extracolonic manifestations was identified in most individuals.
- Two sisters with a specific mutation showed severe phenotypes including thyroid cancer.
- A woman developed colon cancer at age 72 as the first manifestation of attenuated FAP.
Takeaway
Familial adenomatous polyposis can show a wide range of symptoms, and some people might not show signs until they are much older, like 72 years old.
Methodology
Full genomic sequencing and multiplex ligation-dependent probe amplification were used to identify APC gene mutations.
Limitations
The study may not capture all possible mutations due to the limitations of current detection techniques.
Participant Demographics
The study included individuals with clinical manifestations of familial adenomatous polyposis from various families.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website