Familial Adenomatous Polyposis (FAP) in 9 Hispanic women

نویسندگان

  • Charite Ricker
  • Glenn Ault
  • Anthony El-Khoureiy
  • Syma Iqbal
  • Darcy Spicer
  • Heinz-Josef Lenz
چکیده

Background 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.

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عنوان ژورنال:

دوره 8  شماره 

صفحات  -

تاریخ انتشار 2010