Familial colorectal cancer type X: genetic profiles and phenotypic features
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Familial colorectal cancer type X : genetic profiles and phenotypic features. / Dominguez-Valentin, Mev; Therkildsen, Christina; Da Silva, Sabrina; Nilbert, Mef.
In: Modern Pathology, Vol. 28, No. 1, 01.2015, p. 30-36.Research output: Contribution to journal › Review › Research › peer-review
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TY - JOUR
T1 - Familial colorectal cancer type X
T2 - genetic profiles and phenotypic features
AU - Dominguez-Valentin, Mev
AU - Therkildsen, Christina
AU - Da Silva, Sabrina
AU - Nilbert, Mef
PY - 2015/1
Y1 - 2015/1
N2 - Heredity is a major cause of colorectal cancer, but although several rare high-risk syndromes have been linked to disease-predisposing mutations, the genetic mechanisms are undetermined in the majority of families suspected of hereditary cancer. We review the clinical presentation, histopathologic features, and the genetic and epigenetic profiles of the familial colorectal cancer type X (FCCTX) syndrome with the aim to delineate tumor characteristics that may contribute to refined diagnostics and optimized tumor prevention.
AB - Heredity is a major cause of colorectal cancer, but although several rare high-risk syndromes have been linked to disease-predisposing mutations, the genetic mechanisms are undetermined in the majority of families suspected of hereditary cancer. We review the clinical presentation, histopathologic features, and the genetic and epigenetic profiles of the familial colorectal cancer type X (FCCTX) syndrome with the aim to delineate tumor characteristics that may contribute to refined diagnostics and optimized tumor prevention.
U2 - 10.1038/modpathol.2014.49
DO - 10.1038/modpathol.2014.49
M3 - Review
C2 - 24743215
VL - 28
SP - 30
EP - 36
JO - Modern Pathology
JF - Modern Pathology
SN - 0893-3952
IS - 1
ER -
ID: 138497946