Familial Adenomatous Polyposis (FAP) in 9 Hispanic women
© Ricker et al; licensee BioMed Central Ltd. 2010
Published: 25 May 2010
Familial adenomatous polyposis (FAP) is a rare hereditary colorectal cancer syndrome estimated to account for about 1% of colorectal cancers. While there is variation in the FAP phenotype amongst individuals and families with mutations, it is characterized by a striking phenotype of colonic polyposis and other distinctive features such as desmoids and gastric fundic gland polyps. It is estimated that about 30% of APC mutations are de novo. APC mutations have been reported worldwide across different ethnic and racial groups. We report on the features of FAP seen in 9 Hispanic women with colonic polyposis, identified over 18 months.
Individuals were referred for cancer risk assessment. Genetic analysis of the APC gene, including sequencing and rearrangement studies, was conducted after counseling and informed consent.
Country of Origin*
2 mesenteric desmoids;
mom died at 54 of a “tumor between heart & lungs”
maun-co mass, not ca-49
Polyposis, # unknown
Sigmoid descending colon
Tubular adenoma high-grade dysplasia+
gastric polyps; duodenal polyps
gastric polyps; duodenal polyp
These Hispanic women with FAP demonstrate a phenotype consistent with the existing understanding of this syndrome. Of interest, is the lack of males presenting with polyposis and the apparent overrepresentation of de novo mutations. Both of these observations may disappear as cohort size increases. However, there are other factors such as reduced access to regular and diagnostic medical services in other countries, communication barriers within families, and cultural and gender differences that might be at play.
Funded by the USC Norris Foundation
This article is published under license to BioMed Central Ltd.