Open AccessCombined Molecular and Clinical Approaches for the Identification of Families with Familial Adenomatous Polyposis Coli
Author(s) -
Johannes Gebert,
C. Dupon,
Martina Kadmon,
Matthias Hahn,
Christian Herfarth,
Magnus von Knebel Doeberitz,
Hans K. Schackert
Publication year - 1999
Publication title -
annals of surgery
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.153
H-Index - 309
eISSN - 1528-1140
pISSN - 0003-4932
DOI - 10.1097/00000658-199903000-00008
Subject(s) - medicine , familial adenomatous polyposis , adenomatous polyposis coli , identification (biology) , computational biology , genetics , colorectal cancer , cancer , biology , botany
Using an interdisciplinary clinical and molecular approach, the authors identified APC germline mutations in families with familial adenomatous polyposis (FAP). Correlation of mutation site with disease manifestation and the impact of molecular data on clinical proceedings were examined.